Incidental Mutation 'R6950:Trpc3'
ID 541199
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 045062-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6950 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 36674626-36744276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36692739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 751 (R751H)
Ref Sequence ENSEMBL: ENSMUSP00000029271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029271
AA Change: R751H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: R751H

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
Meta Mutation Damage Score 0.1658 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,229,480 (GRCm39) V404D probably damaging Het
Adcy2 A G 13: 69,036,184 (GRCm39) M159T possibly damaging Het
Agtpbp1 T C 13: 59,598,080 (GRCm39) K674R probably benign Het
Atxn7 C A 14: 14,095,511 (GRCm38) P403H probably damaging Het
Cav3 C T 6: 112,449,171 (GRCm39) T63I probably damaging Het
Ccr6 T C 17: 8,475,898 (GRCm39) *368Q probably null Het
Cdh8 A T 8: 99,757,395 (GRCm39) N734K probably benign Het
Ces5a G T 8: 94,257,402 (GRCm39) N134K probably benign Het
Cisd3 T G 11: 97,576,986 (GRCm39) probably null Het
Cyp4f39 T G 17: 32,711,280 (GRCm39) C476G probably damaging Het
Dffb A T 4: 154,054,549 (GRCm39) M180K probably benign Het
Dock4 A G 12: 40,783,313 (GRCm39) E749G possibly damaging Het
Eogt A G 6: 97,111,343 (GRCm39) F173L possibly damaging Het
Ephb1 T A 9: 102,072,108 (GRCm39) T224S probably benign Het
Fam114a1 A T 5: 65,137,322 (GRCm39) E88D possibly damaging Het
Fbn2 A C 18: 58,168,993 (GRCm39) M2262R probably null Het
Fsip2 A G 2: 82,816,332 (GRCm39) I4022V probably benign Het
Gapvd1 A G 2: 34,574,257 (GRCm39) V1301A probably benign Het
Gch1 A T 14: 47,426,723 (GRCm39) M1K probably null Het
Hes1 T C 16: 29,886,089 (GRCm39) F231S probably damaging Het
Hoxb2 A G 11: 96,242,727 (GRCm39) T31A probably benign Het
Ifngr1 T A 10: 19,483,041 (GRCm39) V265D probably damaging Het
Ifnl3 A T 7: 28,222,432 (GRCm39) I58F probably benign Het
Igf2r T C 17: 12,937,605 (GRCm39) T561A probably benign Het
Igfbpl1 T A 4: 45,815,494 (GRCm39) H214L probably damaging Het
Irf8 A G 8: 121,481,864 (GRCm39) T318A probably benign Het
Kmt2d T C 15: 98,737,901 (GRCm39) probably benign Het
Lratd2 T C 15: 60,695,563 (GRCm39) D61G probably benign Het
Lrrc36 G T 8: 106,152,021 (GRCm39) probably null Het
Msl2 C T 9: 100,979,174 (GRCm39) P516L possibly damaging Het
Naaladl1 A T 19: 6,156,011 (GRCm39) I62F probably damaging Het
Neto2 G T 8: 86,397,072 (GRCm39) P60Q probably damaging Het
Nipsnap3b A T 4: 53,015,136 (GRCm39) H61L possibly damaging Het
Npb T C 11: 120,499,473 (GRCm39) F47L probably benign Het
Nutm1 T A 2: 112,078,904 (GRCm39) T1004S probably benign Het
Or4a78 T A 2: 89,497,895 (GRCm39) I112F probably benign Het
Or4z4 A G 19: 12,076,754 (GRCm39) V83A probably benign Het
Or8c17 A T 9: 38,179,842 (GRCm39) N3I probably damaging Het
Oxr1 C A 15: 41,683,951 (GRCm39) A439E probably benign Het
Phf14 A T 6: 12,006,854 (GRCm39) K835N probably damaging Het
Prkdc T A 16: 15,633,850 (GRCm39) V3518E probably damaging Het
Ptpru T A 4: 131,503,663 (GRCm39) E1132D probably damaging Het
Rapgef6 T A 11: 54,567,206 (GRCm39) M1129K probably benign Het
Rgmb T C 17: 16,028,048 (GRCm39) K224E probably damaging Het
Ryr3 T C 2: 112,517,170 (GRCm39) I3318V possibly damaging Het
Slc9a4 A G 1: 40,642,045 (GRCm39) Y338C probably damaging Het
Smg5 T C 3: 88,256,576 (GRCm39) probably null Het
Tenm3 A T 8: 48,693,514 (GRCm39) Y1789* probably null Het
Tgm7 T C 2: 120,924,128 (GRCm39) E598G probably damaging Het
Tiam1 C T 16: 89,657,092 (GRCm39) probably null Het
Tmem175 A G 5: 108,790,948 (GRCm39) N166S probably benign Het
Trp73 G T 4: 154,146,510 (GRCm39) N368K probably benign Het
Trpm4 C A 7: 44,968,704 (GRCm39) A410S probably damaging Het
Ube2t T G 1: 134,899,095 (GRCm39) probably null Het
Vmn2r114 C T 17: 23,529,137 (GRCm39) A322T probably benign Het
Xylt2 C T 11: 94,558,455 (GRCm39) R567H probably benign Het
Zfp119b T C 17: 56,246,137 (GRCm39) K318E probably damaging Het
Zfp626 T G 7: 27,518,339 (GRCm39) L440R probably damaging Het
Zfp850 A G 7: 27,689,939 (GRCm39) S90P possibly damaging 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
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
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'- GAGTTACCCATGCCCAGTTC -3'
(R):5'- ACATCAGGTCTGGAGTGTCTTG -3'

Sequencing Primer
(F):5'- CAGTTCCAGATCCTTCTGCAG -3'
(R):5'- TAGTAACTGTGCAACTGGCC -3'
Posted On 2018-11-28