Trpc1^M2Btlr

ENU-induced A to G transition at base pair 95,721,471 (v38) on chromosome 9, or base pair 28,917 in the GenBank genomic region NC_000075 within the splice acceptor site of intron 6 (2-base pairs from exon 7 [out of 13 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in exon 7. The resulting transcript would have a 14-base pair deletion of exon 7, causing an in-frame deletion of four amino acids beginning after amino acid 336 of the protein, which is normally 809 amino acids long. An alternative cryptic site in exon 7 may also be used (not shown), causing a 56-base pair deletion of exon 7. The use of this cryptic site would cause an in-frame deletion of 18 amino acids beginning after amino acid 336 of the protein. (J:272025)