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Allele : Rag2<m1Btlr> recombination activating gene 2; mutation 1, Bruce Beutler

Primary Identifier  MGI:5524145 Allele Type  Chemically induced (ENU)
Gene  Rag2 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  The mutation is a T-to-G transversion at base pair 101,630,603 (GRCm38) on chromosome 2, or base pair 5,856 in the GenBank genomic region NC_000068. The mutation corresponds to residue 1,468 in the NM_009020 mRNA sequence (equivalent to residue 1498 in the ENSMUST00000044031 cDNA sequence) in exon 3 of 3 total exons and residue 1407 in the ENSMUST00000111227 cDNA sequence in exon 2 of 2 total exons. The Snowcock mutation results in a cysteine (C) to tryptophan (W) substitution at amino acid 419 (p.C419W) in both splice variants.
  • mutations:
  • Single point mutation
  • synonyms:
  • snowcock,
  • snowcock
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele