Prkdc^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Prkdc^m2Btlr
• Name: protein kinase, DNA activated, catalytic polypeptide; mutation 2, Bruce Beutler
• MGI ID: MGI:5532715
• Synonyms: screamer
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^m2Btlr 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: ENU mutagenesis induced a G-to-T transversion at base pair 15,831,282 (GRCm38) on chromosome 16, equivalent to base pair 193,417 in the GenBank genomic region NC_000082. The mutation corresponds to residue 11,142 in the NM_011159 mRNA sequence in exon 78 of 86 total exons. The mutation results in a glycine (G) to premature stop codon (*) substitution at amino acid 3707 (p.G3707*). The effect of the mutation in the mRNA and the encoded protein has not been determined. (J:204502)
• 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 Prkdc Mutation: 408 strains or lines available

References

• Original: J:204502 Wang KW, et al., Direct data submission for Mutagenetix entry for screamer. MGI Direct Data Submission. 2014
• All: 2 reference(s)