|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, R type, alpha 1E subunit|
|Synonyms||Cchra1, alpha1E, Cav2.3|
|Is this an essential gene?||Probably non essential (E-score: 0.204)|
|Stock #||R7332 (G1)|
|Chromosomal Location||154390731-154884501 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 154725801 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 40 (Y40C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000140937 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004214] [ENSMUST00000187541] [ENSMUST00000211821]|
|AlphaFold||no structure available at present|
AA Change: Y40C
PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Y40C
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacna1e||
(F):5'- AATAGATTCCATGCTAGGTGCC -3'
(R):5'- GTGTTCGGCGATCACCTTTG -3'
(F):5'- CTCACCCGATGGAATGCAAAGG -3'
(R):5'- CGGCGATCACCTTTGTGTGTC -3'