Incidental Mutation 'IGL01067:Trpc4'
ID50699
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: 0.146) question?
Stock #IGL01067
Quality Score
Status
Chromosome3
Chromosomal Location54156035-54318471 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 54222562 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 250 (Q250K)
Ref Sequence ENSEMBL: ENSMUSP00000143593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
Predicted Effect probably benign
Transcript: ENSMUST00000029311
AA Change: Q250K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: Q250K

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 probably benign
Transcript: ENSMUST00000200048
AA Change: Q250K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: Q250K

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: Q250K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
AA Change: Q250K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
A330008L17Rik T C 8: 99,421,954 noncoding transcript Het
Acp4 C T 7: 44,253,452 V331I probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Alg6 T C 4: 99,741,570 V128A probably benign Het
Ank3 A G 10: 69,850,196 K280E probably damaging Het
Bfar T C 16: 13,685,241 C36R probably damaging Het
Car14 A G 3: 95,898,816 I311T probably damaging Het
Cd300c T C 11: 114,960,427 probably benign Het
Cfap100 T A 6: 90,406,114 E513V probably damaging Het
Clip1 C A 5: 123,630,804 K612N probably damaging Het
Depdc5 A G 5: 32,899,067 probably null Het
Dock3 A T 9: 107,082,373 probably null Het
Dph6 A T 2: 114,647,809 M17K probably damaging Het
Enkur T C 2: 21,189,231 Q177R probably benign Het
Faap100 T C 11: 120,372,132 H800R probably damaging Het
Fastkd2 T G 1: 63,737,771 probably benign Het
Fcgr2b A T 1: 170,968,053 N102K possibly damaging Het
Fezf1 C T 6: 23,247,843 V78I possibly damaging Het
Fmn2 A T 1: 174,503,319 D425V unknown Het
Fnta G A 8: 26,007,201 Q207* probably null Het
Fpr3 T A 17: 17,970,566 V33D probably benign Het
Fshr C T 17: 88,985,393 C619Y possibly damaging Het
Gbp3 T C 3: 142,566,597 probably null Het
Gjb2 A G 14: 57,100,172 V193A possibly damaging Het
Il4ra A G 7: 125,575,161 T292A probably benign Het
Lama5 A G 2: 180,176,543 probably benign Het
Marveld3 G T 8: 109,961,964 D48E possibly damaging Het
Meox1 A T 11: 101,893,773 I78N probably benign Het
Ncor1 A T 11: 62,392,528 H444Q probably damaging Het
Ndst3 T C 3: 123,546,817 Q784R probably damaging Het
Olfr1123 A G 2: 87,418,370 I107M probably benign Het
Olfr1294 T A 2: 111,538,014 I92F probably damaging Het
Pld5 A T 1: 176,274,879 probably benign Het
Plk1 G A 7: 122,168,925 R456H probably damaging Het
Polr2a T A 11: 69,748,014 I65F possibly damaging Het
Ptprd T A 4: 76,059,685 I196F probably damaging Het
Qsox2 T C 2: 26,228,396 N121S probably damaging Het
Reln A G 5: 21,979,666 L1617S probably damaging Het
Rragc T C 4: 123,929,968 F345L probably benign Het
Sass6 A T 3: 116,613,956 E240D possibly damaging Het
Shcbp1l A C 1: 153,436,024 S308R possibly damaging Het
Slc1a5 T A 7: 16,786,879 C224* probably null Het
Slc27a5 T C 7: 12,989,072 E567G probably damaging Het
Synj2 T A 17: 6,037,926 N1417K possibly damaging Het
Tbc1d9 A G 8: 83,234,162 T214A probably damaging Het
Tjp3 C A 10: 81,273,865 V835L probably benign Het
Ttn A T 2: 76,745,162 I25129N probably damaging Het
Ube4a T A 9: 44,944,865 Y523F probably damaging Het
Zfp971 G A 2: 178,023,382 probably null Het
Other mutations in Trpc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Trpc4 APN 3 54302175 missense probably damaging 1.00
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
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
R8046:Trpc4 UTSW 3 54194914 missense probably damaging 1.00
R8164:Trpc4 UTSW 3 54315805 missense probably benign 0.31
R8235:Trpc4 UTSW 3 54302248 missense probably benign 0.01
R8263:Trpc4 UTSW 3 54222335 missense probably damaging 0.99
R8438:Trpc4 UTSW 3 54222253 missense possibly damaging 0.90
R8854:Trpc4 UTSW 3 54194701 nonsense probably null
X0066:Trpc4 UTSW 3 54194750 missense probably damaging 1.00
Posted On2013-06-21