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|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, gamma subunit 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1687 (G1)|
|Chromosomal Location||107732357-107794557 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107736759 bp|
|Amino Acid Change||Valine to Alanine at position 138 (V138A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021066]|
|Predicted Effect||probably benign
AA Change: V138A
PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: V138A
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. 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, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacng4||
(F):5'- CCCTTTGCGATGTGTGAAAACCC -3'
(R):5'- GGACTCACTCCAGTGTCTGCTTTG -3'
(F):5'- GCGATGTGTGAAAACCCATTTG -3'
(R):5'- AGTGTCTGCTTTGTTCCCAC -3'