Incidental Mutation 'R8183:Trpc6'
ID 634734
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 067781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8183 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 8544143-8680742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8653150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 652 (F652S)
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: F652S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057965
Gene: ENSMUSG00000031997
AA Change: F652S

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 damaging
Transcript: ENSMUST00000214596
AA Change: F574S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T A 15: 72,991,337 (GRCm39) K534* probably null Het
Art1 A T 7: 101,756,633 (GRCm39) I275F probably damaging Het
Atp1a2 T C 1: 172,116,918 (GRCm39) N233S probably damaging Het
B3gnt2 T A 11: 22,786,373 (GRCm39) I272L probably benign Het
Bpifa1 A G 2: 153,988,039 (GRCm39) Q194R possibly damaging Het
Cand2 A G 6: 115,768,879 (GRCm39) E563G probably benign Het
Clns1a A G 7: 97,354,888 (GRCm39) Y78C probably damaging Het
Col20a1 T C 2: 180,640,207 (GRCm39) V483A Het
Col3a1 C G 1: 45,373,970 (GRCm39) P621R unknown Het
Cst9 G A 2: 148,678,634 (GRCm39) R88H possibly damaging Het
Cxxc1 T C 18: 74,353,428 (GRCm39) Y513H probably damaging Het
Dcdc2a T C 13: 25,291,633 (GRCm39) F206S possibly damaging Het
Dgkz C A 2: 91,769,937 (GRCm39) G576C probably damaging Het
Dpy19l3 A G 7: 35,394,814 (GRCm39) F575L probably damaging Het
Ftcd T A 10: 76,411,541 (GRCm39) M1K probably null Het
Gtf2ird1 T C 5: 134,386,689 (GRCm39) D1044G unknown Het
Gzmc A T 14: 56,470,164 (GRCm39) M111K probably damaging Het
Hpse T A 5: 100,832,984 (GRCm39) Y437F probably damaging Het
Ifi203 A G 1: 173,756,266 (GRCm39) S506P unknown Het
Igsf10 A T 3: 59,238,036 (GRCm39) I715K probably benign Het
Ints9 T C 14: 65,273,902 (GRCm39) V569A probably damaging Het
Itih3 A G 14: 30,631,433 (GRCm39) F821S probably benign Het
Kcnh7 T C 2: 62,533,321 (GRCm39) H1186R probably damaging Het
Krt33a A G 11: 99,905,575 (GRCm39) probably null Het
Lonrf1 A T 8: 36,689,819 (GRCm39) M718K possibly damaging Het
Mefv C T 16: 3,526,446 (GRCm39) R756K possibly damaging Het
Metap1d T A 2: 71,337,207 (GRCm39) F40Y possibly damaging Het
Myh1 A T 11: 67,092,832 (GRCm39) D42V possibly damaging Het
Myo15b T G 11: 115,773,843 (GRCm39) probably null Het
Nsd1 T C 13: 55,460,186 (GRCm39) S2241P probably damaging Het
Or10q12 T A 19: 13,746,086 (GRCm39) Y127N probably damaging Het
Osbpl3 C A 6: 50,280,089 (GRCm39) R710L probably benign Het
Osbpl6 C T 2: 76,415,404 (GRCm39) R589C probably damaging Het
Pam T C 1: 97,762,199 (GRCm39) T795A probably benign Het
Patj A C 4: 98,562,466 (GRCm39) E1534D probably damaging Het
Plscr5 A G 9: 92,080,655 (GRCm39) Q47R probably benign Het
Ppil1 A T 17: 29,481,053 (GRCm39) probably null Het
Sec23b G T 2: 144,401,189 (GRCm39) V17L probably benign Het
Serpina3j C A 12: 104,284,754 (GRCm39) Y310* probably null Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Tmprss15 T C 16: 78,884,400 (GRCm39) D94G probably benign Het
Tnpo3 A T 6: 29,558,758 (GRCm39) M724K probably damaging Het
Trappc11 T G 8: 47,982,391 (GRCm39) E116A possibly damaging Het
Trrap T G 5: 144,765,343 (GRCm39) S2501A probably benign Het
Ubr4 T G 4: 139,209,782 (GRCm39) S5005A unknown Het
Urah A T 7: 140,416,707 (GRCm39) Q60L probably benign Het
Vmn2r28 A T 7: 5,491,147 (GRCm39) C367S probably damaging Het
Zmym1 T C 4: 126,952,649 (GRCm39) D44G probably benign 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
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
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'- AAGTGGGACCCTACTGATCC -3'
(R):5'- GCAATCCACTTTAAGATCTCCTTG -3'

Sequencing Primer
(F):5'- GATCATCTCTGAAGGTCTTTATGC -3'
(R):5'- TTTAAGATCTCCTTGTCTTGTTGAC -3'
Posted On 2020-07-13