Rag2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Rag2^m1Btlr
• 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: Rag2^m1Btlr page

Mutation origin

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

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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: 119 strains or lines available

References

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