Incidental Mutation 'R6284:Trpc6'
ID 508113
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 044454-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6284 (G1)
Quality Score 206.009
Status Validated
Chromosome 9
Chromosomal Location 8544143-8680742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8643601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 462 (D462G)
Ref Sequence ENSEMBL: ENSMUSP00000057965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050433] [ENSMUST00000214596]
AlphaFold Q61143
Predicted Effect possibly damaging
Transcript: ENSMUST00000050433
AA Change: D462G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: D462G

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 possibly damaging
Transcript: ENSMUST00000214596
AA Change: D462G

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215328
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q 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
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
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'- ACCTTAGTACATAGGAGAAAATGGC -3'
(R):5'- TTGCTAAGGCTGCAAAACG -3'

Sequencing Primer
(F):5'- gagagagagagagagaaagC -3'
(R):5'- CTAAGGCTGCAAAACGGAACAAGAC -3'
Posted On 2018-03-15