Incidental Mutation 'R5139:Trpc3'
ID 396333
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 042725-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5139 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36674626-36744276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36725706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 90 (M90K)
Ref Sequence ENSEMBL: ENSMUSP00000029271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029271]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029271
AA Change: M90K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: M90K

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: ENSMUST00000146475
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,905 (GRCm39) L625P probably damaging Het
Agtpbp1 A G 13: 59,648,027 (GRCm39) S598P probably damaging Het
Ahnak A C 19: 8,982,019 (GRCm39) D1101A probably damaging Het
Aoah T C 13: 21,207,407 (GRCm39) V542A possibly damaging Het
Aox1 T C 1: 58,100,456 (GRCm39) S418P probably benign Het
Appl1 A G 14: 26,669,112 (GRCm39) I354T probably benign Het
BC035947 T C 1: 78,475,884 (GRCm39) E216G possibly damaging Het
Bnip3l A G 14: 67,237,064 (GRCm39) S63P probably damaging Het
Cckar T C 5: 53,860,265 (GRCm39) N188S probably benign Het
Ccl24 C T 5: 135,601,775 (GRCm39) A18T probably benign Het
Cmya5 A G 13: 93,232,569 (GRCm39) C840R probably benign Het
Copa C T 1: 171,948,896 (GRCm39) R1183W probably damaging Het
Dnah10 T C 5: 124,876,024 (GRCm39) V2621A probably damaging Het
Fryl A G 5: 73,248,061 (GRCm39) Y1019H probably damaging Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Ighv3-8 T C 12: 114,285,994 (GRCm39) Y116C probably damaging Het
Igkv4-70 G A 6: 69,245,089 (GRCm39) T44I probably damaging Het
Lce3c G A 3: 92,852,778 (GRCm39) G80S unknown Het
Ldhb A T 6: 142,439,921 (GRCm39) N206K probably damaging Het
Mical1 T A 10: 41,354,411 (GRCm39) probably null Het
Myh2 T C 11: 67,070,174 (GRCm39) L402P probably damaging Het
Naa15 T A 3: 51,351,261 (GRCm39) L144I probably damaging Het
Nbea T A 3: 55,534,384 (GRCm39) I2918F possibly damaging Het
Or5w11 C A 2: 87,459,000 (GRCm39) H64Q probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pdlim7 A G 13: 55,654,869 (GRCm39) S214P probably damaging Het
Polg T C 7: 79,099,773 (GRCm39) D49G probably damaging Het
Polr2f C A 15: 79,035,858 (GRCm39) D106E possibly damaging Het
Ppp6r3 A C 19: 3,514,610 (GRCm39) N766K probably damaging Het
Prl8a1 T A 13: 27,758,049 (GRCm39) D220V probably damaging Het
Qrfprl A T 6: 65,433,203 (GRCm39) N341I probably damaging Het
Septin9 A G 11: 117,247,511 (GRCm39) K497E possibly damaging Het
Sfswap T G 5: 129,648,073 (GRCm39) M927R possibly damaging Het
Smad9 T G 3: 54,704,827 (GRCm39) W400G possibly damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tesmin A G 19: 3,456,934 (GRCm39) I238V probably damaging Het
Trf C T 9: 103,100,133 (GRCm39) probably null Het
Tshz3 C T 7: 36,470,450 (GRCm39) T813I probably benign Het
Tub T A 7: 108,610,309 (GRCm39) M1K probably null Het
Wdfy3 A T 5: 101,997,133 (GRCm39) probably null Het
Zfp853 T C 5: 143,274,570 (GRCm39) Q350R unknown 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
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'- ATGCTCATTGCCTACAGCC -3'
(R):5'- AATCTGCATTTGGAAGGGCC -3'

Sequencing Primer
(F):5'- CAGCTGCAGTGCGTTCTG -3'
(R):5'- AGCAATTTACCTGGCCTCAG -3'
Posted On 2016-06-21