Incidental Mutation 'R3732:Trpc3'
ID 271024
Institutional Source Beutler Lab
Gene Symbol Trpc3
Ensembl Gene ENSMUSG00000027716
Gene Name transient receptor potential cation channel, subfamily C, member 3
Synonyms Trp3, Trcp3, Trrp3
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3732 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36674626-36744276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36692708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 761 (D761E)
Ref Sequence ENSEMBL: ENSMUSP00000029271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029271]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029271
AA Change: D761E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: D761E

DomainStartEndE-ValueType
low complexity region 20 45 N/A INTRINSIC
low complexity region 47 68 N/A INTRINSIC
ANK 100 129 2.47e2 SMART
ANK 135 163 1.97e1 SMART
ANK 221 250 1.13e1 SMART
Pfam:TRP_2 256 318 3e-28 PFAM
transmembrane domain 414 433 N/A INTRINSIC
Pfam:Ion_trans 443 744 4.4e-34 PFAM
Pfam:PKD_channel 486 739 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133542
Meta Mutation Damage Score 0.1137 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Ppp1r9a T C 6: 4,906,259 (GRCm39) probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Shf T A 2: 122,175,688 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Slc44a4 G A 17: 35,140,537 (GRCm39) silent Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Twf1 A C 15: 94,482,295 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vps50 T C 6: 3,519,243 (GRCm39) silent Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign Het
Other mutations in Trpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Trpc3 APN 3 36,694,788 (GRCm39) missense possibly damaging 0.95
IGL01701:Trpc3 APN 3 36,725,743 (GRCm39) missense possibly damaging 0.92
IGL02254:Trpc3 APN 3 36,705,669 (GRCm39) missense probably null 0.98
IGL02723:Trpc3 APN 3 36,704,377 (GRCm39) missense probably benign 0.02
IGL02816:Trpc3 APN 3 36,705,851 (GRCm39) missense probably damaging 1.00
IGL02867:Trpc3 APN 3 36,694,850 (GRCm39) missense probably benign 0.10
IGL02929:Trpc3 APN 3 36,692,623 (GRCm39) nonsense probably null
IGL03076:Trpc3 APN 3 36,694,804 (GRCm39) missense probably damaging 1.00
R0032:Trpc3 UTSW 3 36,698,405 (GRCm39) missense probably damaging 1.00
R0032:Trpc3 UTSW 3 36,698,405 (GRCm39) missense probably damaging 1.00
R0115:Trpc3 UTSW 3 36,678,566 (GRCm39) missense probably benign 0.05
R0481:Trpc3 UTSW 3 36,678,566 (GRCm39) missense probably benign 0.05
R0645:Trpc3 UTSW 3 36,725,654 (GRCm39) missense probably benign 0.00
R0694:Trpc3 UTSW 3 36,725,704 (GRCm39) missense possibly damaging 0.48
R1190:Trpc3 UTSW 3 36,725,497 (GRCm39) missense probably benign 0.00
R1635:Trpc3 UTSW 3 36,694,776 (GRCm39) missense probably damaging 1.00
R1828:Trpc3 UTSW 3 36,692,695 (GRCm39) missense possibly damaging 0.95
R2204:Trpc3 UTSW 3 36,704,298 (GRCm39) missense possibly damaging 0.79
R2937:Trpc3 UTSW 3 36,688,532 (GRCm39) nonsense probably null
R3732:Trpc3 UTSW 3 36,692,708 (GRCm39) missense probably benign
R3733:Trpc3 UTSW 3 36,692,708 (GRCm39) missense probably benign
R4063:Trpc3 UTSW 3 36,725,172 (GRCm39) missense probably damaging 1.00
R4270:Trpc3 UTSW 3 36,717,074 (GRCm39) nonsense probably null
R4807:Trpc3 UTSW 3 36,688,531 (GRCm39) missense probably benign 0.00
R4996:Trpc3 UTSW 3 36,716,967 (GRCm39) missense probably benign 0.00
R5098:Trpc3 UTSW 3 36,717,047 (GRCm39) missense probably benign 0.07
R5139:Trpc3 UTSW 3 36,725,706 (GRCm39) missense possibly damaging 0.46
R5251:Trpc3 UTSW 3 36,725,103 (GRCm39) missense probably damaging 1.00
R5337:Trpc3 UTSW 3 36,692,519 (GRCm39) intron probably benign
R5891:Trpc3 UTSW 3 36,725,171 (GRCm39) missense probably damaging 1.00
R6512:Trpc3 UTSW 3 36,716,907 (GRCm39) missense possibly damaging 0.59
R6618:Trpc3 UTSW 3 36,694,844 (GRCm39) missense possibly damaging 0.82
R6750:Trpc3 UTSW 3 36,678,542 (GRCm39) missense probably damaging 1.00
R6950:Trpc3 UTSW 3 36,692,739 (GRCm39) missense probably damaging 1.00
R6986:Trpc3 UTSW 3 36,709,165 (GRCm39) critical splice donor site probably null
R7031:Trpc3 UTSW 3 36,675,459 (GRCm39) missense probably benign
R7100:Trpc3 UTSW 3 36,704,216 (GRCm39) missense probably benign 0.00
R7182:Trpc3 UTSW 3 36,709,258 (GRCm39) missense probably benign 0.02
R7211:Trpc3 UTSW 3 36,694,882 (GRCm39) missense possibly damaging 0.81
R7214:Trpc3 UTSW 3 36,704,286 (GRCm39) missense possibly damaging 0.94
R7284:Trpc3 UTSW 3 36,678,562 (GRCm39) missense probably damaging 0.98
R7468:Trpc3 UTSW 3 36,678,565 (GRCm39) missense probably damaging 0.99
R7652:Trpc3 UTSW 3 36,692,677 (GRCm39) missense probably benign 0.06
R7815:Trpc3 UTSW 3 36,709,294 (GRCm39) missense probably benign 0.28
R7833:Trpc3 UTSW 3 36,694,821 (GRCm39) missense probably damaging 0.96
R7977:Trpc3 UTSW 3 36,698,318 (GRCm39) missense probably benign 0.13
R7987:Trpc3 UTSW 3 36,698,318 (GRCm39) missense probably benign 0.13
R8778:Trpc3 UTSW 3 36,725,070 (GRCm39) missense probably damaging 0.99
R8959:Trpc3 UTSW 3 36,709,258 (GRCm39) missense probably benign 0.02
R9072:Trpc3 UTSW 3 36,694,831 (GRCm39) missense probably benign 0.01
R9175:Trpc3 UTSW 3 36,709,279 (GRCm39) missense probably benign 0.15
R9401:Trpc3 UTSW 3 36,675,503 (GRCm39) nonsense probably null
R9429:Trpc3 UTSW 3 36,705,777 (GRCm39) missense probably benign 0.01
R9563:Trpc3 UTSW 3 36,705,683 (GRCm39) missense probably benign 0.03
R9571:Trpc3 UTSW 3 36,694,909 (GRCm39) missense probably damaging 1.00
R9711:Trpc3 UTSW 3 36,692,713 (GRCm39) missense possibly damaging 0.81
Z1177:Trpc3 UTSW 3 36,675,428 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAATCTCTTCTAAGTTCACACACG -3'
(R):5'- ACATCAGGTCTGGAGTGTCTTG -3'

Sequencing Primer
(F):5'- GTTCACACACGGAAATTAATGAAC -3'
(R):5'- CAGGATGACAGTGATGTAG -3'
Posted On 2015-03-18