Atp12a - SNV Details



 Gene Information 
Gene Name Atp12a
Gene Description ATPase, H+/K+ transporting, nongastric, alpha polypeptide [Source:MGI Symbol;Acc:MGI:1926943]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
monovalent inorganic cation transport; membrane; ATPase activity
coupled to transmembrane movement of ions
phosphorylative mechanism; catalytic activity; integral to membrane; potassium ion homeostasis; apical plasma membrane; metal ion binding; ATP biosynthetic process; metabolic process; protein binding; response to metal ion; response to organic cyclic compound; nucleotide binding; cation transport; ATP binding; monovalent inorganic cation transmembrane transporter activity; regulation of pH; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; basolateral plasma membrane; hydrogen:potassium-exchanging ATPase activity
Homolog in other species ATP12A
Omim http://omim.org/entry/182360
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022229
Chromosome 14
Coordinate 56,379,955     (Assembly: GRCm38)    
Ref Base T
Codon Change tgT/tgG
Var Base G
Zygosity Heterozygous
Read Depth 72
Allele Frequency
T:R0.60
G:V0.40
Amino Acid Position 567
Amino Acid Change C->W (Cysteine -> Tryptophan)
Sample ID IGL01382
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000007340:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
HAD-like domain HAD-like_dom IPR023214 ENSMUSP00000007340 Superfamily 381
776 Description available Search pathways
Sodium/potassium-transporting P-type ATPase, subfamily IIC ATPase_P-typ_Na/K_IIC IPR005775 ENSMUSP00000007340 TIGRfam 41
1035 Description available Search pathways
P-type ATPase, cytoplasmic domain N ATPase_P-typ_cyto_domN IPR023299 ENSMUSP00000007340 Superfamily 394
606 Description available Search pathways
HAD-like domain HAD-like_dom IPR023214 ENSMUSP00000007340 Pfam 383
740 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved