|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, gamma subunit 1|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R2042 (G1)|
|Chromosomal Location||107703218-107716522 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 107704308 bp|
|Amino Acid Change||Alanine to Threonine at position 148 (A148T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021065 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021065]|
|Predicted Effect||probably damaging
AA Change: A148T
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: A148T
|Meta Mutation Damage Score||0.2375|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for null mutations display abnormal muscle calcium currents. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacng1||
(F):5'- TCACTCACTGGGAAGGTTTG -3'
(R):5'- ACTTCGAACCTCCTCGCTAAG -3'
(F):5'- TGGCCAGTGTCCTTCCCAAG -3'
(R):5'- CTCGCTAAGAACACTGACAGTAGG -3'