Sppl2a^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Sppl2a^m2Btlr
• Name: signal peptide peptidase like 2A; mutation 2, Bruce Beutler
• MGI ID: MGI:5806433
• Synonyms: abra2
• Gene: Sppl2a Location: Chr2:126732311-126775155 bp, - strand Genetic Position: Chr2, 61.76 cM, cytoband F3
• Alliance: Sppl2a^m2Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced G to A transition at base pair 126,920,313 (v38) on chromosome 2, or base pair 12,950 in the GenBank genomic region NC_000068 encoding the gene. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 7. Use of the cryptic splice site would result in a 54-base pair insertion in intron 7, leading to a frame-shifted protein product beginning after amino acid 281, and termination after the inclusion of 9 aberrant amino acids. (J:236688)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Sppl2a Mutation: 47 strains or lines available

References

• Original: J:236688 Choi JH, et al., Mutagenetix entry for abra2. MGI Direct Data Submission. 2016
• All: 1 reference(s)