Atp1a2 - SNV Details



 Human Rare Diseases 
Familial or sporadic hemiplegic migraine
Alternating hemiplegia of childhood

 Gene Information 
Gene Name Atp1a2
Old Gene Names for Atp1a2 Aw060654 , Atpa-3
Gene Description ATPase, Na+/K+ transporting, alpha 2 polypeptide [Source:MGI Symbol;Acc:MGI:88106]
MGI phenotype Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons.
Uniprot Name
CCDS Name
Gene GO
monovalent inorganic cation transport; membrane; ATPase activity
coupled to transmembrane movement of ions
phosphorylative mechanism; negative regulation of heart contraction; catalytic activity; caveola; integral to membrane; visual learning; sarcolemma; cytoplasm; sodium:potassium-exchanging ATPase complex; regulation of blood pressure; metal ion binding; ATP biosynthetic process; regulation of striated muscle contraction; response to nicotine; adult locomotory behavior; metabolic process; T-tubule; protein binding; synapse; regulation of smooth muscle contraction; regulation of cardiac muscle cell contraction; regulation of the force of heart contraction; endosome; locomotion; dendritic spine; sodium:potassium-exchanging ATPase activity; neurotransmitter uptake; regulation of muscle contraction; nucleotide binding; ATP hydrolysis coupled proton transport; reduction of cytosolic calcium ion concentration; regulation of respiratory gaseous exchange by neurological system process; cation transport; ATP binding; neuron projection; cellular response to mechanical stimulus; monovalent inorganic cation transmembrane transporter activity; plasma membrane; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; cation-transporting ATPase activity; regulation of vasoconstriction; negative regulation of striated muscle contraction; potassium ion transport; sodium ion transport
Homolog in other species ATP1A2
Omim http://omim.org/entry/182340
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)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000007097
Chromosome 1
Coordinate 172,278,943     (Assembly: GRCm38)    
Ref Base T
Codon Change Agg/Ggg
Var Base C
Zygosity Heterozygous
Read Depth 51
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Position 831
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL01372
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

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

 Protein domains 
ENSMUSP00000083077:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cation-transporting P-type ATPase, C-terminal ATPase_P-typ_cation-transptr_C IPR006068 ENSMUSP00000083077 Pfam 796
1005 Description available Search pathways
Sodium/potassium-transporting P-type ATPase, subfamily IIC ATPase_P-typ_Na/K_IIC IPR005775 ENSMUSP00000083077 TIGRfam 25
1020 Description available Search pathways

 Availability Details 
Availability Cryopreserved