Incidental Mutation 'R7459:Trpc4'
ID 578295
Institutional Source Beutler Lab
Gene Symbol Trpc4
Ensembl Gene ENSMUSG00000027748
Gene Name transient receptor potential cation channel, subfamily C, member 4
Synonyms Trrp4, Trp4, CCE1, STRPC4
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 54063456-54225892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54198653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 526 (V526M)
Ref Sequence ENSEMBL: ENSMUSP00000143593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
AlphaFold Q9QUQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000029311
AA Change: V526M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: V526M

DomainStartEndE-ValueType
Blast:ANK 33 63 4e-7 BLAST
ANK 69 98 8.72e-1 SMART
ANK 141 170 5.09e-2 SMART
Pfam:TRP_2 176 238 1.2e-30 PFAM
transmembrane domain 328 350 N/A INTRINSIC
Pfam:Ion_trans 363 632 4.2e-33 PFAM
low complexity region 763 780 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200048
AA Change: V526M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: V526M

DomainStartEndE-ValueType
Blast:ANK 33 63 2e-7 BLAST
ANK 69 98 8.72e-1 SMART
ANK 141 170 5.09e-2 SMART
Pfam:TRP_2 176 238 1.1e-30 PFAM
transmembrane domain 328 350 N/A INTRINSIC
Pfam:Ion_trans 363 632 3.5e-33 PFAM
low complexity region 763 782 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200341
SMART Domains Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748

DomainStartEndE-ValueType
Blast:ANK 33 63 2e-7 BLAST
ANK 69 98 8.72e-1 SMART
ANK 141 170 5.09e-2 SMART
Pfam:TRP_2 176 238 6.4e-33 PFAM
transmembrane domain 331 351 N/A INTRINSIC
transmembrane domain 366 383 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging Het
Other mutations in Trpc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Trpc4 APN 3 54,209,596 (GRCm39) missense probably damaging 1.00
IGL01067:Trpc4 APN 3 54,129,983 (GRCm39) missense probably benign 0.01
IGL01475:Trpc4 APN 3 54,173,828 (GRCm39) missense possibly damaging 0.87
IGL01544:Trpc4 APN 3 54,209,567 (GRCm39) missense probably damaging 0.99
IGL01688:Trpc4 APN 3 54,173,495 (GRCm39) splice site probably benign
IGL02134:Trpc4 APN 3 54,223,075 (GRCm39) missense possibly damaging 0.46
IGL02237:Trpc4 APN 3 54,129,783 (GRCm39) missense probably damaging 1.00
IGL02301:Trpc4 APN 3 54,198,653 (GRCm39) missense probably damaging 0.97
IGL02549:Trpc4 APN 3 54,129,770 (GRCm39) missense possibly damaging 0.92
IGL02742:Trpc4 APN 3 54,206,667 (GRCm39) missense probably damaging 1.00
IGL02815:Trpc4 APN 3 54,206,695 (GRCm39) splice site probably benign
R0498:Trpc4 UTSW 3 54,198,632 (GRCm39) missense probably damaging 1.00
R0555:Trpc4 UTSW 3 54,209,511 (GRCm39) splice site probably benign
R0609:Trpc4 UTSW 3 54,102,189 (GRCm39) missense probably damaging 1.00
R1351:Trpc4 UTSW 3 54,102,423 (GRCm39) missense probably damaging 1.00
R1595:Trpc4 UTSW 3 54,223,236 (GRCm39) missense probably benign 0.02
R1623:Trpc4 UTSW 3 54,206,600 (GRCm39) missense probably damaging 1.00
R1763:Trpc4 UTSW 3 54,102,243 (GRCm39) missense possibly damaging 0.90
R1843:Trpc4 UTSW 3 54,187,415 (GRCm39) missense probably benign 0.19
R1856:Trpc4 UTSW 3 54,187,410 (GRCm39) missense probably damaging 1.00
R1936:Trpc4 UTSW 3 54,187,311 (GRCm39) missense probably damaging 1.00
R2196:Trpc4 UTSW 3 54,209,614 (GRCm39) missense probably benign 0.03
R2441:Trpc4 UTSW 3 54,129,704 (GRCm39) missense probably damaging 0.96
R2877:Trpc4 UTSW 3 54,198,761 (GRCm39) missense probably damaging 1.00
R3846:Trpc4 UTSW 3 54,225,433 (GRCm39) missense probably benign 0.22
R3931:Trpc4 UTSW 3 54,225,516 (GRCm39) missense probably damaging 1.00
R4854:Trpc4 UTSW 3 54,209,639 (GRCm39) missense probably damaging 1.00
R5024:Trpc4 UTSW 3 54,102,217 (GRCm39) missense probably benign 0.11
R5284:Trpc4 UTSW 3 54,187,368 (GRCm39) missense probably damaging 0.99
R5320:Trpc4 UTSW 3 54,206,599 (GRCm39) missense probably damaging 0.99
R5973:Trpc4 UTSW 3 54,223,263 (GRCm39) missense probably damaging 1.00
R6276:Trpc4 UTSW 3 54,225,441 (GRCm39) missense probably benign 0.25
R6335:Trpc4 UTSW 3 54,224,995 (GRCm39) critical splice donor site probably null
R7082:Trpc4 UTSW 3 54,206,519 (GRCm39) nonsense probably null
R7215:Trpc4 UTSW 3 54,102,317 (GRCm39) missense possibly damaging 0.83
R7299:Trpc4 UTSW 3 54,225,048 (GRCm39) missense possibly damaging 0.87
R7423:Trpc4 UTSW 3 54,225,450 (GRCm39) missense probably benign
R7538:Trpc4 UTSW 3 54,225,516 (GRCm39) missense possibly damaging 0.92
R7542:Trpc4 UTSW 3 54,223,075 (GRCm39) missense probably damaging 1.00
R7823:Trpc4 UTSW 3 54,209,640 (GRCm39) nonsense probably null
R7868:Trpc4 UTSW 3 54,209,707 (GRCm39) missense probably benign 0.00
R8046:Trpc4 UTSW 3 54,102,335 (GRCm39) missense probably damaging 1.00
R8164:Trpc4 UTSW 3 54,223,226 (GRCm39) missense probably benign 0.31
R8235:Trpc4 UTSW 3 54,209,669 (GRCm39) missense probably benign 0.01
R8263:Trpc4 UTSW 3 54,129,756 (GRCm39) missense probably damaging 0.99
R8438:Trpc4 UTSW 3 54,129,674 (GRCm39) missense possibly damaging 0.90
R8854:Trpc4 UTSW 3 54,102,122 (GRCm39) nonsense probably null
R8987:Trpc4 UTSW 3 54,102,132 (GRCm39) missense probably benign 0.09
R9023:Trpc4 UTSW 3 54,102,254 (GRCm39) missense possibly damaging 0.52
R9196:Trpc4 UTSW 3 54,129,872 (GRCm39) missense probably damaging 1.00
R9210:Trpc4 UTSW 3 54,173,741 (GRCm39) missense probably benign 0.07
R9350:Trpc4 UTSW 3 54,209,610 (GRCm39) missense probably damaging 1.00
R9600:Trpc4 UTSW 3 54,102,248 (GRCm39) nonsense probably null
R9605:Trpc4 UTSW 3 54,225,550 (GRCm39) missense probably benign
R9644:Trpc4 UTSW 3 54,129,699 (GRCm39) missense probably damaging 1.00
R9749:Trpc4 UTSW 3 54,102,302 (GRCm39) missense probably damaging 1.00
R9755:Trpc4 UTSW 3 54,223,215 (GRCm39) missense probably damaging 1.00
X0066:Trpc4 UTSW 3 54,102,171 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAACCCACGGGAATCATG -3'
(R):5'- TCCTTGGCAATCCTTGTGG -3'

Sequencing Primer
(F):5'- TGGGACATGTGGCACCC -3'
(R):5'- GCAATCCTTGTGGCGAATTTC -3'
Posted On 2019-10-07