Atp1a2 - SNV Details

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

 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
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
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000007097
Chromosome 1
Coordinate 172,286,309     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 59
Allele Frequency
Amino Acid Position 369
Amino Acid Change S->A (Serine -> Alanine)
Sample ID IGL01942
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

Polyphen Score 0.68
Polyphen Prediction Possibly damaging
Sift Score 0.04
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved