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Allele : Ptprc<m12Btlr> protein tyrosine phosphatase receptor type C; mutation 12, Bruce Beutler

Primary Identifier  MGI:6305858 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Ptprc
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4415
molecularNote  T to A transversion at base pair 138,072,255 (v38) on chromosome 1, or base pair X in the GenBank genomic region NC_000067 within the donor splice site of intron 28 (2-base pairs from exon 28 out of 33 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 28. The resulting transcript has a 4-base pair insertion of intron 28, which would cause a frame-shifted protein product beginning after amino acid 1,013 of the protein (the protein is normally 1,293 amino acids long) and termination after in the inclusion of two aberrant amino acids.
  • mutations:
  • Single point mutation
  • synonyms:
  • crystal,
  • crystal
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories