ENU-induced C to T transition at base pair 158,857,136 (v38) on chromosome 1, or base pair 123,392 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,432 in the mRNA sequence NM_001085376 within exon 4 of 22 total exons. The mutation results in a threonine to isoleucine substitution at position 811 (T811I) in the PAPP-A2 protein. (J:271980)