Cacna1a - SNV Details

 Human Rare Diseases 
Spinocerebellar ataxia type 6
Alternating hemiplegia of childhood
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Benign paroxysmal torticollis of infancy

 Gene Information 
Gene Name Cacna1a
Old Gene Names for Cacna1a Ccha1a
Gene Description calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482]
MGI phenotype Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.
Uniprot Name
Gene GO
dendrite morphogenesis; calcium ion-dependent exocytosis of neurotransmitter; cell death; neurotransmitter metabolic process; gamma-aminobutyric acid secretion; cerebellum maturation; regulation of acetylcholine secretion; negative regulation of hormone biosynthetic process; membrane depolarization; synaptic transmission; synaptic transmission
glutamatergic; syntaxin binding; membrane; sulfur amino acid metabolic process; high voltage-gated calcium channel activity; cell growth; cytoplasm; central nervous system neuron differentiation; neurological system process; cerebellar Purkinje cell differentiation; rhythmic synaptic transmission; neuromuscular synaptic transmission; elevation of cytosolic calcium ion concentration; calcium ion transport; DNA binding; regulation of calcium ion-dependent exocytosis; musculoskeletal movement
spinal reflex action; vestibular nucleus development; protein binding; neuronal cell body; neuron-neuron synaptic transmission; cerebellar Purkinje cell layer development; neuromuscular process controlling balance; hormone metabolic process; nucleus; glucose metabolic process; neuromuscular process; ion channel activity; synapse assembly; calmodulin binding; adult walking behavior; ion transport; behavioral response to pain; voltage-gated calcium channel complex; perikaryon; transmission of nerve impulse; voltage-gated calcium channel activity; calcium ion-dependent exocytosis; regulation of axonogenesis; transmembrane transport; dendrite; cerebellar molecular layer development; regulation of membrane potential; negative regulation of neuron apoptotic process; receptor clustering; cellular chloride ion homeostasis; response to pain; gamma-aminobutyric acid signaling pathway; spinal cord motor neuron differentiation
Homolog in other species CACNA1A
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034656
Chromosome 8
Coordinate 84,571,827     (Assembly: GRCm38)    
Ref Base T
Codon Change tTc/tCc
Var Base C
Zygosity Heterozygous
Read Depth 95
Allele Frequency
Amino Acid Position 1260
Amino Acid Change F->S (Phenylalanine -> Serine)
Sample ID IGL01638
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

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

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ion transport domain Ion_trans_dom IPR005821 ENSMUSP00000112436 Pfam 1230
1461 Description available Search pathways

 Availability Details 
Availability Cryopreserved