Incidental Mutation 'IGL02549:Trpc4'
ID297963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpc4
Ensembl Gene ENSMUSG00000027748
Gene Nametransient receptor potential cation channel, subfamily C, member 4
SynonymsTrrp4, STRPC4, Trp4, CCE1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02549
Quality Score
Status
Chromosome3
Chromosomal Location54156035-54318471 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 54222349 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 179 (V179I)
Ref Sequence ENSEMBL: ENSMUSP00000143593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029311
AA Change: V179I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: V179I

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 noncoding transcript
Transcript: ENSMUST00000199359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199399
Predicted Effect possibly damaging
Transcript: ENSMUST00000200048
AA Change: V179I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: V179I

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
AA Change: V179I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
AA Change: V179I

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,102,053 E1595G probably damaging Het
Adnp2 G A 18: 80,129,118 A692V probably damaging Het
Als2cr12 T C 1: 58,659,282 T326A probably benign Het
Ankk1 A G 9: 49,418,693 S321P probably damaging Het
Ankrd11 T C 8: 122,891,293 Y1919C probably damaging Het
Atp10a A G 7: 58,819,733 T1111A probably benign Het
Avpr1a A T 10: 122,452,164 H359L possibly damaging Het
C1rl A T 6: 124,493,837 I35F possibly damaging Het
Casp8 G A 1: 58,833,766 C287Y probably benign Het
Ccdc88c A T 12: 100,928,932 S1437T probably benign Het
Cd200r1 C T 16: 44,789,978 P150S probably damaging Het
Col2a1 G A 15: 97,977,799 R1202C unknown Het
Copb1 A T 7: 114,246,797 D179E probably benign Het
Cyp2c29 C T 19: 39,309,785 T258I possibly damaging Het
Gemin5 T C 11: 58,134,803 Y991C probably damaging Het
Gm4978 T C 9: 69,450,359 probably benign Het
Gm7732 A T 17: 21,129,387 noncoding transcript Het
Gucy2f T C X: 142,160,204 I478V probably benign Het
Herc1 A G 9: 66,399,901 H1001R probably damaging Het
Igsf10 A G 3: 59,329,241 V1173A probably benign Het
Kansl1l T C 1: 66,801,968 T58A probably benign Het
Kcnk13 A T 12: 100,061,751 K362* probably null Het
Lama1 T G 17: 67,790,835 L1737V possibly damaging Het
Lama4 A G 10: 39,060,204 N625S probably benign Het
Loxl1 A T 9: 58,293,638 C514S probably damaging Het
Muc13 A C 16: 33,807,969 E363A probably damaging Het
Noxo1 G T 17: 24,700,171 G289V probably damaging Het
Nudt7 G T 8: 114,151,948 D239Y probably damaging Het
Polr3e G T 7: 120,939,759 V407F probably damaging Het
Pou5f2 T A 13: 78,025,590 L217Q probably damaging Het
R3hdm2 A G 10: 127,484,225 probably benign Het
Rab11fip3 A C 17: 25,994,320 N793K probably damaging Het
Ranbp3l A G 15: 8,968,441 R6G possibly damaging Het
Slco1a6 T A 6: 142,096,415 probably benign Het
Sspo A G 6: 48,451,773 E374G possibly damaging Het
Tg T C 15: 66,839,361 Y991H probably damaging Het
Tnc A G 4: 64,015,072 Y652H probably damaging Het
Xirp2 A G 2: 67,513,102 T1896A probably benign Het
Zfhx3 T C 8: 108,800,509 Y1013H probably damaging Het
Other mutations in Trpc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Trpc4 APN 3 54302175 missense probably damaging 1.00
IGL01067:Trpc4 APN 3 54222562 missense probably benign 0.01
IGL01475:Trpc4 APN 3 54266407 missense possibly damaging 0.87
IGL01544:Trpc4 APN 3 54302146 missense probably damaging 0.99
IGL01688:Trpc4 APN 3 54266074 splice site probably benign
IGL02134:Trpc4 APN 3 54315654 missense possibly damaging 0.46
IGL02237:Trpc4 APN 3 54222362 missense probably damaging 1.00
IGL02301:Trpc4 APN 3 54291232 missense probably damaging 0.97
IGL02742:Trpc4 APN 3 54299246 missense probably damaging 1.00
IGL02815:Trpc4 APN 3 54299274 splice site probably benign
R0498:Trpc4 UTSW 3 54291211 missense probably damaging 1.00
R0555:Trpc4 UTSW 3 54302090 splice site probably benign
R0609:Trpc4 UTSW 3 54194768 missense probably damaging 1.00
R1351:Trpc4 UTSW 3 54195002 missense probably damaging 1.00
R1595:Trpc4 UTSW 3 54315815 missense probably benign 0.02
R1623:Trpc4 UTSW 3 54299179 missense probably damaging 1.00
R1763:Trpc4 UTSW 3 54194822 missense possibly damaging 0.90
R1843:Trpc4 UTSW 3 54279994 missense probably benign 0.19
R1856:Trpc4 UTSW 3 54279989 missense probably damaging 1.00
R1936:Trpc4 UTSW 3 54279890 missense probably damaging 1.00
R2196:Trpc4 UTSW 3 54302193 missense probably benign 0.03
R2441:Trpc4 UTSW 3 54222283 missense probably damaging 0.96
R2877:Trpc4 UTSW 3 54291340 missense probably damaging 1.00
R3846:Trpc4 UTSW 3 54318012 missense probably benign 0.22
R3931:Trpc4 UTSW 3 54318095 missense probably damaging 1.00
R4854:Trpc4 UTSW 3 54302218 missense probably damaging 1.00
R5024:Trpc4 UTSW 3 54194796 missense probably benign 0.11
R5284:Trpc4 UTSW 3 54279947 missense probably damaging 0.99
R5320:Trpc4 UTSW 3 54299178 missense probably damaging 0.99
R5973:Trpc4 UTSW 3 54315842 missense probably damaging 1.00
R6276:Trpc4 UTSW 3 54318020 missense probably benign 0.25
R6335:Trpc4 UTSW 3 54317574 critical splice donor site probably null
R7082:Trpc4 UTSW 3 54299098 nonsense probably null
R7215:Trpc4 UTSW 3 54194896 missense possibly damaging 0.83
R7299:Trpc4 UTSW 3 54317627 missense possibly damaging 0.87
R7423:Trpc4 UTSW 3 54318029 missense probably benign
R7459:Trpc4 UTSW 3 54291232 missense probably damaging 0.97
R7538:Trpc4 UTSW 3 54318095 missense possibly damaging 0.92
R7542:Trpc4 UTSW 3 54315654 missense probably damaging 1.00
R7823:Trpc4 UTSW 3 54302219 nonsense probably null
R7868:Trpc4 UTSW 3 54302286 missense probably benign 0.00
R7951:Trpc4 UTSW 3 54302286 missense probably benign 0.00
X0066:Trpc4 UTSW 3 54194750 missense probably damaging 1.00
Posted On2015-04-16