A spontaneous C-to-T point mutation in exon 13 results in premature termination codon at arginine 658 (p.R658*) and the loss of the last 36 amino acids. There is also an insertion/duplication of AGTC in intron 12 between position chr2:130048178-130048179 (GRCm38) (duplication of 130048179-130048182).