|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+/K+ transporting, nongastric, alpha polypeptide|
|Synonyms||cHKA, ATPase H+K+-transporting, alpha 2, Atp1al1, HKalpha2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8063 (G1)|
|Chromosomal Location||56365068-56388550 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 56366088 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 50 (E50G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007340 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007340]|
|Predicted Effect||probably damaging
AA Change: E50G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E50G
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
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. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp12a||
(F):5'- CTCAAGGAAACCTGTCTGGAG -3'
(R):5'- CACAGGAATCTGGCAGCAAG -3'
(F):5'- CTGGAGCTAATATTTACACGTCTGC -3'
(R):5'- CCAGAGGGAAGTTATAATGG -3'