|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Na+/K+ transporting, alpha 4 polypeptide|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2291 (G1)|
|Chromosomal Location||172223513-172258414 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 172244906 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 394 (N394D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000111243]|
|Predicted Effect||probably damaging
AA Change: N394D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N394D
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp1a4||
(F):5'- GGCGTGATATTTCCTATGGCC -3'
(R):5'- GGTGGGATTTCTAAAGACCGG -3'
(F):5'- GATATTTCCTATGGCCCCCACAC -3'
(R):5'- GGGATTTCTAAAGACCGGGTTAG -3'