Incidental Mutation 'IGL02815:Trpc4'
ID360789
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: 0.099) question?
Stock #IGL02815
Quality Score
Status
Chromosome3
Chromosomal Location54156035-54318471 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 54299274 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
Predicted Effect probably benign
Transcript: ENSMUST00000029311
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748

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 benign
Transcript: ENSMUST00000200048
SMART Domains Protein: ENSMUSP00000143593
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F 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
IGL02549:Trpc4 APN 3 54222349 missense possibly damaging 0.92
IGL02742:Trpc4 APN 3 54299246 missense probably damaging 1.00
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
X0066:Trpc4 UTSW 3 54194750 missense probably damaging 1.00
Posted On2015-12-18