Prkcq^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Prkcq^m2Btlr
• Name: protein kinase C, theta; mutation 2, Bruce Beutler
• MGI ID: MGI:6114114
• Synonyms: celina2
• Gene: Prkcq Location: Chr2:11176922-11306033 bp, + strand Genetic Position: Chr2, 8.42 cM
• Alliance: Prkcq^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 A to G transition at base pair 11,226,986 (v38) on chromosome 2, or base pair 55,083 in the GenBank genomic region NC_000068 within the donor splice site of intron 2 (Transcript_ID = ENSMUST00000028118.8). 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 exon 1 (out of 16 total exons; Transcript_ID = ENSMUST00000102970.4). Use of the cryptic site in exon 1 would result in a 14-base pair deletion in exon 1 and a frame-shifted protein product beginning after amino acid 34 and terminating after the inclusion of 20 aberrant amino acids. (J:255216)
• 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 Prkcq Mutation: 51 strains or lines available

References

• Original: J:255216 Choi JH, et al., Mutagenetix entry for celina2. MGI Direct Data Submission. 2018
• All: 1 reference(s)