Incidental Mutation 'R1217:Trpc6'
ID 262444
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 039286-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1217 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 8544143-8680742 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 8658287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]
AlphaFold Q61143
Predicted Effect probably null
Transcript: ENSMUST00000050433
SMART Domains Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997

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 null
Transcript: ENSMUST00000214596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215328
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.6%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a A T 10: 75,169,049 (GRCm39) Y171F probably damaging Het
Agpat4 C T 17: 12,429,203 (GRCm39) R152W probably damaging Het
Aldh1a2 A G 9: 71,188,964 (GRCm39) N293D possibly damaging Het
Ash2l T C 8: 26,312,913 (GRCm39) N441S probably damaging Het
Asrgl1 A T 19: 9,093,864 (GRCm39) probably null Het
Capn3 C A 2: 120,316,902 (GRCm39) S277* probably null Het
Ccdc168 A T 1: 44,096,339 (GRCm39) S1586R possibly damaging Het
Ccp110 T C 7: 118,329,167 (GRCm39) probably benign Het
Cdh17 T C 4: 11,799,676 (GRCm39) V491A probably benign Het
Cep170b T C 12: 112,707,339 (GRCm39) S362P probably damaging Het
Cfap57 A G 4: 118,463,849 (GRCm39) S335P possibly damaging Het
Cmklr1 A T 5: 113,752,107 (GRCm39) L298Q probably damaging Het
Col4a4 A T 1: 82,466,730 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp2d26 A G 15: 82,677,068 (GRCm39) probably benign Het
Cyth3 T C 5: 143,688,575 (GRCm39) Y240H probably damaging Het
Dhx9 G A 1: 153,334,109 (GRCm39) T1017I probably damaging Het
Edar T C 10: 58,464,453 (GRCm39) Y62C probably damaging Het
Esyt3 C T 9: 99,200,097 (GRCm39) G699D possibly damaging Het
Fgb T C 3: 82,950,564 (GRCm39) T397A probably damaging Het
Foxc1 C A 13: 31,992,668 (GRCm39) A493E unknown Het
Grid1 T C 14: 34,542,186 (GRCm39) M1T probably null Het
Ipo4 T C 14: 55,871,816 (GRCm39) K113R probably damaging Het
Kif21b A G 1: 136,080,114 (GRCm39) E550G probably damaging Het
Krt1 T C 15: 101,757,416 (GRCm39) K265E possibly damaging Het
Lmx1a G A 1: 167,618,968 (GRCm39) R109H probably damaging Het
Mcm5 A G 8: 75,852,919 (GRCm39) K677R probably benign Het
Metap1 A T 3: 138,180,791 (GRCm39) L130* probably null Het
Mrgpra4 A G 7: 47,631,085 (GRCm39) L172P probably benign Het
Mylip G A 13: 45,560,178 (GRCm39) E205K probably damaging Het
Myo3b A C 2: 70,161,224 (GRCm39) E1128A probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nlrp4d T C 7: 10,098,194 (GRCm39) I823V probably benign Het
Odad1 C T 7: 45,592,182 (GRCm39) probably benign Het
Rec114 A T 9: 58,573,103 (GRCm39) probably benign Het
Rimbp2 C T 5: 128,865,351 (GRCm39) A666T probably benign Het
Siva1 C T 12: 112,613,355 (GRCm39) Q68* probably null Het
Slc22a27 T A 19: 7,904,033 (GRCm39) I35F probably benign Het
Slco1a5 T A 6: 142,200,100 (GRCm39) N228I probably damaging Het
St8sia4 G A 1: 95,581,464 (GRCm39) R93C probably damaging Het
Tprg1 T C 16: 25,231,593 (GRCm39) S190P probably damaging Het
Vmn2r70 C T 7: 85,208,269 (GRCm39) C736Y probably damaging Het
Zfp629 C T 7: 127,211,916 (GRCm39) probably benign Het
Zswim4 A G 8: 84,946,601 (GRCm39) V685A possibly 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
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
R5657:Trpc6 UTSW 9 8,609,808 (GRCm39) missense probably benign 0.11
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
Posted On 2015-02-04