Col6a2^m1Btlr

ENU-induced G to A transition at base pair 76,608,106 (v38) on chromosome 10, or base pair 15,520 in the GenBank genomic region NC_000076 within the donor splice site of intron 16. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in the use of a cryptic splice site in intron 16. The resulting transcript would have a 57-base pair insertion in intron 16, resulting an in-frame insertion of 19 amino acids after amino acid 480 (in both protein variants). The protein would terminate at the appropriate site. (J:255182)