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. |