Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Rag2m1Btlr
Name:	recombination activating gene 2; mutation 1, Bruce Beutler
MGI ID:	MGI:5524145
Synonyms:	snowcock
Gene:	Rag2  Location: Chr2:101455063-101462874 bp, + strand  Genetic Position: Chr2, 53.87 cM
Alliance:	Rag2m1Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: 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. (J:203045) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Rag2 Mutation:	117 strains or lines available

Original:	J:203045 Wang KW, et al., Mutagenetix entry for snowcock. MGI Direct Data Submission. 2013;
All:	2 reference(s)