|Institutional Source||Beutler Lab|
|Gene Name||calcium channel, voltage-dependent, gamma subunit 7|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5596 (G1)|
|Chromosomal Location||3332955-3368221 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 3366904 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 262 (I262F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092891]|
|Predicted Effect||probably benign
AA Change: I262F
PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: I262F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0602|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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 II 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 I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and indistinguishable from wild-type controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cacng7||
(F):5'- CTTGTTCACCAAGCGCTACG -3'
(R):5'- TTGGAATTAACCGGTGGGGA -3'
(F):5'- CTACGCGGAGGAAGAGATGTATC -3'
(R):5'- TTTGGAAGTATAATGAATCAGTGAGG -3'