|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, alpha2/delta subunit 3|
|Synonyms||alpha2delta3, alpha 2 delta-3|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8838 (G1)|
|Chromosomal Location||28904943-29721864 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 28969263 bp (GRCm38)|
|Amino Acid Change||Cysteine to Tyrosine at position 35 (C35Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152967 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000225668] [ENSMUST00000225985]|
AA Change: C35Y
PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: C35Y
PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacna2d3||
(F):5'- CACAGAGTTCAACAAGTGGGATTG -3'
(R):5'- CTGCTGTGACTGTTTCAGCC -3'
(F):5'- TCAACAAGTGGGATTGGCTCC -3'
(R):5'- GTGACTGTTTCAGCCATTCCCAG -3'