Ptprc^m12Btlr

T to A transversion at base pair 138,072,255 (v38) on chromosome 1, or base pair X in the GenBank genomic regionNC_000067within the donor splice site of intron 28 (2-base pairs from exon 28 out of 33 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 intron 28. The resulting transcript has a 4-base pair insertion of intron 28, which would cause a frame-shifted protein product beginning after amino acid 1,013 of the protein (the protein is normally 1,293 amino acids long) and termination after in the inclusion of two aberrant amino acids. (J:274972)