|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 #||R7173 (G1)|
|Chromosomal Location||56365068-56388550 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56384380 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 794 (N794I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007340 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007340]|
|Predicted Effect||probably damaging
AA Change: N794I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N794I
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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'- TTCTGATGCTGCTAAGAATGCAG -3'
(R):5'- CCAACGATACAGAAGGCTCTTG -3'
(F):5'- GACATGGTCTTGCTCGATGACAAC -3'
(R):5'- CTCTTGGCAGCAATAGGTATGAC -3'