Identification of a new allele of catp-4

TL;DR

A new mutation in the catp-4 gene, linked to fertility, was found to cause infertility by affecting a key protein site.

Contribution

This is the first report of a missense mutation in catp-4 causing a loss-of-function phenotype.

Findings

A missense mutation in a conserved glycine residue of catp-4 causes infertility.

The mutation leads to a loss-of-function phenotype similar to null alleles of catp-4.

Abstract

CATP-4
is a subunit of a Na
+
/K
+
-ATPase important for sperm motility and fertility. Here, we report the characterization of a new allele of

catp-4

isolated from a forward genetic screen for sterile mutants. The

catp-4
(
as46
)

allele has a missense mutation that substitutes a highly conserved Glycine which lies close to an ATP binding site. This mutation results in a loss-of-function phenotype comparable to that of the

catp-4

null alleles, emphasizing the importance of this residue for
CATP-4
function. This is for the first time that a phenotype has been reported for a single missense mutation in the

catp-4

gene.

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