|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, alpha2/delta subunit 3|
|Synonyms||alpha2delta3, alpha 2 delta-3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1073 (G1)|
|Chromosomal Location||28904943-29721864 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 29045623 bp|
|Amino Acid Change||Histidine to Leucine at position 765 (H765L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022567]|
|Predicted Effect||probably damaging
AA Change: H765L
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: H765L
|Meta Mutation Damage Score||0.4508|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
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'- ATTCTGCACTGACTGAAGGCTGAC -3'
(R):5'- CCAGAACCCACAGGCACTTTTGAG -3'
(F):5'- GGATGTGCACAAATTCCCAC -3'
(R):5'- CACAGGCACTTTTGAGTAAAGTCG -3'