Pcsk5^b2b1549Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4795 in exon 35 of the cDNA (c.4795T>A, NM_001190483). This changes the cysteine residue to serine at position 1599 of the encoded protein (p.C1599S). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pcsk5b2b1549Clo, and may be present in stocks carrying this mutation.