Incidental Mutation 'R5657:Trpc6'
ID 442384
Institutional Source Beutler Lab
Gene Symbol Trpc6
Ensembl Gene ENSMUSG00000031997
Gene Name transient receptor potential cation channel, subfamily C, member 6
Synonyms mtrp6, Trrp6
MMRRC Submission 043171-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5657 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 8544143-8680742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8609808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 92 (T92I)
Ref Sequence ENSEMBL: ENSMUSP00000057965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596] [ENSMUST00000217462]
AlphaFold Q61143
Predicted Effect probably benign
Transcript: ENSMUST00000050433
AA Change: T92I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: T92I

DomainStartEndE-ValueType
low complexity region 37 54 N/A INTRINSIC
ANK 96 125 4.73e2 SMART
ANK 131 159 3.49e0 SMART
ANK 217 246 6.61e-1 SMART
Pfam:TRP_2 252 314 4e-29 PFAM
transmembrane domain 406 427 N/A INTRINSIC
Pfam:Ion_trans 442 738 4.2e-38 PFAM
Pfam:PKD_channel 477 733 3.1e-16 PFAM
low complexity region 770 781 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214596
AA Change: T92I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000217462
AA Change: T92I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 31,051,390 (GRCm39) Y533C probably damaging Het
Ahnak T C 19: 8,991,979 (GRCm39) V4421A probably damaging Het
Bach1 A G 16: 87,516,173 (GRCm39) K238R probably benign Het
Bloc1s6 T A 2: 122,580,577 (GRCm39) V12D probably benign Het
Clca3b C A 3: 144,533,144 (GRCm39) L629F probably benign Het
Clhc1 A G 11: 29,511,431 (GRCm39) I292V probably benign Het
Col27a1 T C 4: 63,143,547 (GRCm39) S412P probably damaging Het
Col6a4 A G 9: 105,949,397 (GRCm39) I746T probably damaging Het
Cracr2a G A 6: 127,580,970 (GRCm39) A49T probably damaging Het
Cyb561d1 A G 3: 108,108,008 (GRCm39) I28T possibly damaging Het
Dnah11 T A 12: 117,847,352 (GRCm39) M4264L probably damaging Het
Dnajc13 A G 9: 104,105,736 (GRCm39) L412S probably damaging Het
Dpf3 T C 12: 83,371,785 (GRCm39) N150S probably damaging Het
Epha2 T C 4: 141,050,805 (GRCm39) C854R probably damaging Het
Fat2 G T 11: 55,201,507 (GRCm39) Y522* probably null Het
Foxm1 A T 6: 128,350,351 (GRCm39) S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 (GRCm39) V136A possibly damaging Het
Gm6647 T G 5: 13,818,835 (GRCm39) noncoding transcript Het
Grin2b T A 6: 135,710,085 (GRCm39) I1154F possibly damaging Het
Hmcn1 A G 1: 150,534,313 (GRCm39) V2987A probably benign Het
Jade2 A G 11: 51,707,814 (GRCm39) S800P probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or1e33 T C 11: 73,738,366 (GRCm39) N195S probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plod1 T C 4: 148,003,238 (GRCm39) E529G possibly damaging Het
Plppr2 T C 9: 21,858,911 (GRCm39) C343R probably damaging Het
Prpf38a T C 4: 108,425,621 (GRCm39) D219G probably damaging Het
Ptpra G A 2: 130,346,204 (GRCm39) E122K probably benign Het
Rabl2 T C 15: 89,472,416 (GRCm39) M38V probably benign Het
Reep1 A G 6: 71,738,358 (GRCm39) M39V possibly damaging Het
Rsf1 GC GCGGCGGCGTC 7: 97,229,141 (GRCm39) probably benign Het
Slc26a10 T C 10: 127,010,833 (GRCm39) probably benign Het
Sun2 C A 15: 79,612,150 (GRCm39) E510* probably null Het
Tanc1 A G 2: 59,665,051 (GRCm39) probably null Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tor1aip1 G T 1: 155,883,234 (GRCm39) H205N probably damaging Het
Vmn2r100 T A 17: 19,725,178 (GRCm39) F36I probably benign Het
Zfp787 T C 7: 6,136,053 (GRCm39) Y66C probably damaging Het
Other mutations in Trpc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Trpc6 APN 9 8,680,439 (GRCm39) missense probably damaging 1.00
IGL00469:Trpc6 APN 9 8,626,702 (GRCm39) missense probably benign
IGL00970:Trpc6 APN 9 8,653,152 (GRCm39) missense probably damaging 1.00
IGL01299:Trpc6 APN 9 8,653,062 (GRCm39) missense probably damaging 1.00
IGL01563:Trpc6 APN 9 8,656,604 (GRCm39) missense probably damaging 1.00
IGL01578:Trpc6 APN 9 8,634,058 (GRCm39) missense probably damaging 1.00
IGL02657:Trpc6 APN 9 8,643,602 (GRCm39) missense possibly damaging 0.94
IGL02735:Trpc6 APN 9 8,655,339 (GRCm39) missense probably damaging 1.00
IGL03102:Trpc6 APN 9 8,649,302 (GRCm39) missense probably benign 0.07
P0038:Trpc6 UTSW 9 8,649,512 (GRCm39) missense possibly damaging 0.52
PIT4531001:Trpc6 UTSW 9 8,610,149 (GRCm39) missense probably benign 0.14
R0100:Trpc6 UTSW 9 8,653,035 (GRCm39) missense probably damaging 1.00
R0100:Trpc6 UTSW 9 8,653,035 (GRCm39) missense probably damaging 1.00
R0323:Trpc6 UTSW 9 8,643,537 (GRCm39) missense probably damaging 1.00
R0323:Trpc6 UTSW 9 8,610,276 (GRCm39) missense probably damaging 1.00
R0334:Trpc6 UTSW 9 8,610,344 (GRCm39) missense probably damaging 1.00
R0665:Trpc6 UTSW 9 8,634,123 (GRCm39) missense probably benign 0.11
R0948:Trpc6 UTSW 9 8,610,416 (GRCm39) missense possibly damaging 0.60
R1177:Trpc6 UTSW 9 8,658,305 (GRCm39) missense probably benign 0.04
R1217:Trpc6 UTSW 9 8,658,287 (GRCm39) splice site probably null
R1445:Trpc6 UTSW 9 8,680,538 (GRCm39) missense probably benign 0.00
R1452:Trpc6 UTSW 9 8,653,148 (GRCm39) missense probably damaging 0.99
R1494:Trpc6 UTSW 9 8,658,305 (GRCm39) missense probably benign 0.04
R1501:Trpc6 UTSW 9 8,610,170 (GRCm39) missense probably damaging 0.99
R1933:Trpc6 UTSW 9 8,656,546 (GRCm39) missense probably damaging 1.00
R2112:Trpc6 UTSW 9 8,656,613 (GRCm39) missense probably damaging 1.00
R2164:Trpc6 UTSW 9 8,610,466 (GRCm39) nonsense probably null
R2921:Trpc6 UTSW 9 8,653,034 (GRCm39) missense possibly damaging 0.94
R2995:Trpc6 UTSW 9 8,544,467 (GRCm39) missense probably benign 0.30
R3821:Trpc6 UTSW 9 8,610,279 (GRCm39) missense probably damaging 1.00
R3965:Trpc6 UTSW 9 8,626,622 (GRCm39) missense probably damaging 1.00
R4360:Trpc6 UTSW 9 8,610,267 (GRCm39) missense probably benign 0.10
R4625:Trpc6 UTSW 9 8,677,963 (GRCm39) missense probably benign 0.40
R4691:Trpc6 UTSW 9 8,652,979 (GRCm39) missense probably damaging 1.00
R4736:Trpc6 UTSW 9 8,609,871 (GRCm39) missense probably damaging 1.00
R4767:Trpc6 UTSW 9 8,643,687 (GRCm39) missense probably damaging 1.00
R4773:Trpc6 UTSW 9 8,609,852 (GRCm39) missense possibly damaging 0.78
R4792:Trpc6 UTSW 9 8,626,615 (GRCm39) missense probably benign 0.00
R5105:Trpc6 UTSW 9 8,649,471 (GRCm39) missense probably benign
R5319:Trpc6 UTSW 9 8,609,922 (GRCm39) missense probably damaging 1.00
R5429:Trpc6 UTSW 9 8,634,075 (GRCm39) nonsense probably null
R5505:Trpc6 UTSW 9 8,626,736 (GRCm39) missense probably damaging 1.00
R5684:Trpc6 UTSW 9 8,653,129 (GRCm39) missense probably damaging 1.00
R5722:Trpc6 UTSW 9 8,680,550 (GRCm39) missense possibly damaging 0.88
R6210:Trpc6 UTSW 9 8,656,731 (GRCm39) missense probably benign 0.42
R6284:Trpc6 UTSW 9 8,643,601 (GRCm39) missense possibly damaging 0.93
R6773:Trpc6 UTSW 9 8,634,058 (GRCm39) missense probably damaging 1.00
R6874:Trpc6 UTSW 9 8,680,439 (GRCm39) missense probably damaging 1.00
R7032:Trpc6 UTSW 9 8,609,951 (GRCm39) missense probably damaging 1.00
R7142:Trpc6 UTSW 9 8,653,017 (GRCm39) nonsense probably null
R7489:Trpc6 UTSW 9 8,656,545 (GRCm39) missense probably benign 0.00
R7631:Trpc6 UTSW 9 8,626,702 (GRCm39) missense probably benign
R7762:Trpc6 UTSW 9 8,653,150 (GRCm39) missense possibly damaging 0.91
R7872:Trpc6 UTSW 9 8,609,910 (GRCm39) missense probably damaging 1.00
R7895:Trpc6 UTSW 9 8,655,219 (GRCm39) missense probably damaging 1.00
R7911:Trpc6 UTSW 9 8,656,705 (GRCm39) missense probably benign
R8115:Trpc6 UTSW 9 8,609,982 (GRCm39) missense probably damaging 1.00
R8183:Trpc6 UTSW 9 8,653,150 (GRCm39) missense possibly damaging 0.91
R8435:Trpc6 UTSW 9 8,610,441 (GRCm39) missense probably damaging 1.00
R8929:Trpc6 UTSW 9 8,643,411 (GRCm39) intron probably benign
R9355:Trpc6 UTSW 9 8,649,473 (GRCm39) missense probably benign
R9511:Trpc6 UTSW 9 8,680,419 (GRCm39) missense probably benign 0.17
R9572:Trpc6 UTSW 9 8,656,622 (GRCm39) missense possibly damaging 0.93
R9718:Trpc6 UTSW 9 8,634,190 (GRCm39) missense probably damaging 1.00
R9752:Trpc6 UTSW 9 8,643,641 (GRCm39) missense probably benign 0.03
Z1176:Trpc6 UTSW 9 8,655,214 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ACGTCTAGAGATGCTGAGGC -3'
(R):5'- GCTCTGTGATTTCCAAGTGC -3'

Sequencing Primer
(F):5'- ATTGCATTAGGTGAATGACAGGTC -3'
(R):5'- AAGTGCTCATTGGCCACAG -3'
Posted On 2016-11-09