Incidental Mutation 'IGL02301:Trpc4'
ID 290299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpc4
Ensembl Gene ENSMUSG00000027748
Gene Name transient receptor potential cation channel, subfamily C, member 4
Synonyms Trrp4, Trp4, CCE1, STRPC4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # IGL02301
Quality Score
Status
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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Atf7ip2 T G 16: 10,028,911 (GRCm39) S148A probably benign Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Cd5l A G 3: 87,273,300 (GRCm39) R90G probably benign Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Hus1 T C 11: 8,946,915 (GRCm39) T261A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Or6c70 A G 10: 129,709,948 (GRCm39) F226S probably damaging Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Stk39 T C 2: 68,042,306 (GRCm39) D543G probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G 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
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
R7459:Trpc4 UTSW 3 54,198,653 (GRCm39) missense probably damaging 0.97
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
Posted On 2015-04-16