|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 #||R1452 (G1)|
|Chromosomal Location||8544142-8680741 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 8653147 bp|
|Amino Acid Change||Methionine to Isoleucine at position 573 (M573I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000149686 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]|
|Predicted Effect||possibly damaging
AA Change: M651I
PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: M651I
|Predicted Effect||probably damaging
AA Change: M573I
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.254|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
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'- GGACCCTACTGATCCTCAGATCATCTC -3'
(R):5'- TGCACAGGATTTAGGACAATGGATGC -3'
(F):5'- GATCCTCAGATCATCTCTGAAGG -3'
(R):5'- GCACTTATGCAACACTGTTTAGC -3'