Gpr161^vl

The molecular lesion is an 8-bp deletion in exon 4. This mutation is expected to cause a frameshift and premature stop codon 50 nt 3' of the deletion that results in the incorporation of 16 novel amino acids (GAHGRRTVPGTQQQHR) and truncation of the GPCR at residue 386, deleting 143 (of 203) amino acids of the C-terminal tail. An in vitro assay showed that a smaller protein can be expressed from a construct carrying this mutation and assay results suggest that internalization of the protein from the plasma membrane into the endosomal compartment is disrupted by this mutation. (J:131929)