Prkdc^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Prkdc^m3Btlr
• Name: protein kinase, DNA activated, catalytic polypeptide; mutation 3, Bruce Beutler
• MGI ID: MGI:5688503
• Synonyms: screamer2
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^m3Btlr 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 T to C transition at base pair 15,652,552 (v38) on chromosome 16, or base pair 15,109 in the NC_000082 GenBank genomic region. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. Prkdc contains 86 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in skipping of the 100 base pair exon 7 and out-of-frame splicing from exon 6 to exon 8. This would result in deletion of amino acids 208-241, coding of 21 aberrant amino acids (amino acids 208-228), and coding of a premature stop codon after amino acid 228. (J:224665)
• 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: 418 strains or lines available

References

• Original: J:224665 Choi JH, et al., Mutagenetix entry for screamer2. MGI Direct Data Submission. 2015
• All: 1 reference(s)