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Allele : Prkdc<m2Btlr> protein kinase, DNA activated, catalytic polypeptide; mutation 2, Bruce Beutler

Primary Identifier  MGI:5532715 Allele Type  Chemically induced (ENU)
Gene  Prkdc Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  ENU mutagenesis induced a G-to-T transversion at base pair 15,831,282 (GRCm38) on chromosome 16, equivalent to base pair 193,417 in the GenBank genomic region NC_000082. The mutation corresponds to residue 11,142 in the NM_011159 mRNA sequence in exon 78 of 86 total exons. The mutation results in a glycine (G) to premature stop codon (*) substitution at amino acid 3707 (p.G3707*). The effect of the mutation in the mRNA and the encoded protein has not been determined.
  • mutations:
  • Single point mutation
  • synonyms:
  • screamer,
  • screamer
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele