|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily C, member 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4691 (G1)|
|Chromosomal Location||8544142-8680741 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 8652978 bp|
|Amino Acid Change||Glutamic Acid to Alanine at position 595 (E595A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]|
|Predicted Effect||probably damaging
AA Change: E595A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E595A
|Predicted Effect||possibly damaging
AA Change: E517A
PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.526|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for one null targeted mutation are viable and fertile and exhibit no overt abnormal phenotype. Another knockout results in an increase in thermal nociceptive response latency. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpc6||
(F):5'- GTTCTTCAGAGCACAAGGTTTTAC -3'
(R):5'- ATTCTCTACCATCAGGACCCCG -3'
(F):5'- CAACTCATGGGAACTTACCA -3'
(R):5'- TTGCGCCAATGTAGTAGGAG -3'