|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|
|Synonyms||Cacnl1a4, alpha1A, SCA6, nmf352, Ccha1a|
|Is this an essential gene?||Probably essential (E-score: 0.929)|
|Stock #||R1862 (G1)|
|Chromosomal Location||84388440-84640246 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 84415930 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 96 (I96F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112436 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000121390] [ENSMUST00000122053]|
|Predicted Effect||possibly damaging
AA Change: I96F
PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I96F
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
AA Change: I49F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacna1a||
(F):5'- GCTTTGGAGACGAGATGCCG -3'
(R):5'- CTACTCGCAGGCTCACTCTG -3'
(F):5'- AGATGCCGGGCCGCTAC -3'
(R):5'- AGGCTCACTCTGCAGCG -3'