Incidental Mutation 'R1445:Trpc6'
ID 158793
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 039500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1445 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 8544143-8680742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8680538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 844 (E844G)
Ref Sequence ENSEMBL: ENSMUSP00000149686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]
AlphaFold Q61143
Predicted Effect probably benign
Transcript: ENSMUST00000050433
AA Change: E922G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: E922G

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: E844G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215328
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 84.0%
Validation Efficiency 96% (101/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik G T 3: 116,861,385 (GRCm39) noncoding transcript Het
2300003K06Rik G T 11: 99,728,793 (GRCm39) Q17K probably benign Het
Abca16 T C 7: 120,119,256 (GRCm39) V999A probably benign Het
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Agap2 T A 10: 126,926,981 (GRCm39) probably benign Het
Ago3 C A 4: 126,265,580 (GRCm39) R278L probably benign Het
Aldh1a2 T C 9: 71,192,492 (GRCm39) V449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aplnr A G 2: 84,967,353 (GRCm39) Y126C probably damaging Het
Apob T C 12: 8,066,084 (GRCm39) I4351T possibly damaging Het
Ash1l T C 3: 88,914,659 (GRCm39) L1763P probably benign Het
Aspn T C 13: 49,710,849 (GRCm39) S165P possibly damaging Het
Atg13 A T 2: 91,510,335 (GRCm39) V349E probably damaging Het
Atp1b2 T A 11: 69,493,309 (GRCm39) probably null Het
B3glct A T 5: 149,677,604 (GRCm39) D411V probably damaging Het
Bcar3 A T 3: 122,316,840 (GRCm39) I255F probably damaging Het
Cacna1b G A 2: 24,608,148 (GRCm39) probably benign Het
Cep164 T G 9: 45,690,198 (GRCm39) E675A possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chst8 C A 7: 34,447,593 (GRCm39) M8I possibly damaging Het
Clec4n A G 6: 123,212,475 (GRCm39) E67G probably benign Het
Cobll1 A T 2: 64,929,480 (GRCm39) D653E probably damaging Het
Col9a1 T C 1: 24,276,579 (GRCm39) probably null Het
Crip2 T C 12: 113,107,124 (GRCm39) L30P probably damaging Het
Ctbp1 C T 5: 33,418,407 (GRCm39) V22I probably benign Het
Cwc22 T C 2: 77,747,521 (GRCm39) probably benign Het
Cyp4a32 C A 4: 115,460,147 (GRCm39) Y119* probably null Het
Dido1 G T 2: 180,313,263 (GRCm39) A463E possibly damaging Het
Dnah7a G A 1: 53,567,956 (GRCm39) P1880L probably benign Het
Dock2 T A 11: 34,189,705 (GRCm39) T1489S probably benign Het
Dsp A G 13: 38,375,907 (GRCm39) T1231A probably damaging Het
Eif2ak1 G T 5: 143,810,717 (GRCm39) probably benign Het
Entrep1 G A 19: 23,998,998 (GRCm39) T140M probably damaging Het
Epc1 A T 18: 6,452,360 (GRCm39) M233K probably damaging Het
Gigyf2 A G 1: 87,371,360 (GRCm39) probably benign Het
Greb1 T G 12: 16,757,852 (GRCm39) H58P probably damaging Het
Gtpbp1 T C 15: 79,597,649 (GRCm39) I348T possibly damaging Het
Hck A T 2: 152,970,192 (GRCm39) N64Y probably benign Het
Herc2 T C 7: 55,818,744 (GRCm39) S2812P probably damaging Het
Inpp4b T A 8: 82,679,463 (GRCm39) probably null Het
Kcnq5 A C 1: 21,475,248 (GRCm39) S473A probably benign Het
Lrat T G 3: 82,810,676 (GRCm39) D115A probably damaging Het
Lyst A G 13: 13,814,639 (GRCm39) I1131M possibly damaging Het
Man2a2 T C 7: 80,018,310 (GRCm39) D160G probably benign Het
Marf1 C T 16: 13,933,688 (GRCm39) D1567N probably benign Het
Mars1 T C 10: 127,133,857 (GRCm39) D680G possibly damaging Het
Mat1a T C 14: 40,843,797 (GRCm39) S339P probably damaging Het
Megf8 T C 7: 25,042,081 (GRCm39) S1300P probably damaging Het
Mga T C 2: 119,733,179 (GRCm39) L9S probably damaging Het
Mllt6 T C 11: 97,563,277 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,921,692 (GRCm39) L179P probably benign Het
Mtnr1a G T 8: 45,540,782 (GRCm39) V248L probably benign Het
Mylk T C 16: 34,635,835 (GRCm39) S19P possibly damaging Het
Or11g1 A G 14: 50,651,858 (GRCm39) T286A probably damaging Het
Pacc1 A G 1: 191,080,559 (GRCm39) probably benign Het
Parp8 A T 13: 117,161,886 (GRCm39) probably null Het
Pcnx2 T C 8: 126,479,023 (GRCm39) D2075G probably damaging Het
Pigo A T 4: 43,021,460 (GRCm39) I494K probably benign Het
Pkd1l1 A T 11: 8,820,313 (GRCm39) D1217E probably benign Het
Pkhd1l1 T C 15: 44,369,040 (GRCm39) V895A probably benign Het
Plcb4 A T 2: 135,842,109 (GRCm39) H1031L possibly damaging Het
Plxnb1 A G 9: 108,937,989 (GRCm39) K1245R probably null Het
Pold1 C T 7: 44,192,181 (GRCm39) probably benign Het
Ptprq T C 10: 107,498,423 (GRCm39) I885V probably damaging Het
Ptprz1 A G 6: 23,050,473 (GRCm39) D1398G probably damaging Het
Pygm G A 19: 6,439,917 (GRCm39) A364T probably benign Het
Rbl1 T C 2: 157,035,018 (GRCm39) N354S probably benign Het
Scgb2b19 C T 7: 32,979,037 (GRCm39) probably null Het
Slc26a8 C T 17: 28,867,187 (GRCm39) V545M possibly damaging Het
Slc27a1 T A 8: 72,036,757 (GRCm39) probably null Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Sorbs3 A G 14: 70,431,095 (GRCm39) V284A probably benign Het
Stfa2l1 T C 16: 35,982,154 (GRCm39) V75A probably damaging Het
Syndig1 A G 2: 149,772,841 (GRCm39) D166G probably damaging Het
Tcp10a G A 17: 7,593,406 (GRCm39) probably null Het
Themis2 T A 4: 132,510,212 (GRCm39) I663F possibly damaging Het
Thrap3 T C 4: 126,070,129 (GRCm39) Q586R probably damaging Het
Tinag C A 9: 76,952,798 (GRCm39) C62F probably damaging Het
Tmod1 T C 4: 46,090,884 (GRCm39) Y146H probably damaging Het
Tmprss4 T A 9: 45,095,683 (GRCm39) I54F possibly damaging Het
Tnks A C 8: 35,301,757 (GRCm39) probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Ubxn6 T C 17: 56,376,042 (GRCm39) D373G probably benign Het
Upf1 T A 8: 70,794,174 (GRCm39) Q244L probably benign Het
Usp33 A G 3: 152,074,271 (GRCm39) I372M probably damaging Het
Usp34 A G 11: 23,301,629 (GRCm39) E351G probably damaging Het
Utrn A G 10: 12,554,318 (GRCm39) probably benign Het
Vmn1r78 A G 7: 11,886,508 (GRCm39) K40E possibly damaging Het
Vmn2r7 T A 3: 64,632,223 (GRCm39) M80L probably benign Het
Vps13a G T 19: 16,678,602 (GRCm39) Y1126* probably null Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Wnk2 C T 13: 49,224,586 (GRCm39) D992N probably damaging Het
Zpbp2 C A 11: 98,444,670 (GRCm39) T66K 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
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 PCR Primer
(F):5'- CTGTGCTACCACAACTCTCCAAGTC -3'
(R):5'- GCTGCAACTCACTTTGTCAGGGAAC -3'

Sequencing Primer
(F):5'- ACCTGGAATCATTGGTTCACAC -3'
(R):5'- AGCAGGCTGTTCAGCATTATC -3'
Posted On 2014-03-14