Incidental Mutation 'IGL01475:Trpc4'
ID88413
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: 0.124) question?
Stock #IGL01475
Quality Score
Status
Chromosome3
Chromosomal Location54156035-54318471 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54266407 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 407 (L407F)
Ref Sequence ENSEMBL: ENSMUSP00000143593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029311
AA Change: L407F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: L407F

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: ENSMUST00000199399
Predicted Effect possibly damaging
Transcript: ENSMUST00000200048
AA Change: L407F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: L407F

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,142,803 N15K possibly damaging Het
4833427G06Rik A G 9: 51,100,058 I93T probably benign Het
Adam32 A T 8: 24,872,648 I587K probably damaging Het
Adamtsl4 T C 3: 95,677,533 S942G probably benign Het
Adamtsl5 A G 10: 80,344,916 F104S probably damaging Het
Adgrf5 A G 17: 43,450,354 D980G probably benign Het
Apba1 A T 19: 23,917,586 D462V possibly damaging Het
Arhgef11 T C 3: 87,727,126 probably benign Het
Cd74 T C 18: 60,810,321 probably benign Het
Cdc16 T C 8: 13,781,542 S592P probably benign Het
Cenpj A G 14: 56,565,045 M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 L425S probably damaging Het
Dbt C T 3: 116,520,259 T25I possibly damaging Het
Dguok C A 6: 83,490,570 M98I possibly damaging Het
Dmxl1 T C 18: 49,871,714 L943P probably damaging Het
Eloa G A 4: 136,010,920 S243L probably benign Het
Enkur C A 2: 21,196,719 A52S probably damaging Het
Ezh1 T C 11: 101,192,961 E744G probably damaging Het
Fbxw11 T C 11: 32,722,101 S190P possibly damaging Het
Foxb1 G A 9: 69,759,268 probably benign Het
Gabra5 C T 7: 57,408,684 G439S probably damaging Het
Gtf2h2 A T 13: 100,481,033 V207D probably damaging Het
Krt76 A G 15: 101,888,513 V317A probably benign Het
Lair1 C A 7: 4,009,684 probably benign Het
Lrit2 T A 14: 37,069,094 H243Q probably damaging Het
Mast3 C T 8: 70,779,530 A1268T probably damaging Het
Matn2 G A 15: 34,316,525 M4I possibly damaging Het
Mob1b T A 5: 88,749,643 F137I probably damaging Het
Mreg T C 1: 72,164,166 probably benign Het
Nom1 T C 5: 29,446,274 V684A possibly damaging Het
Pate2 T A 9: 35,669,702 L1Q probably null Het
Pla2r1 T C 2: 60,441,081 probably benign Het
Plxna1 A G 6: 89,354,888 F447L possibly damaging Het
Pno1 A T 11: 17,210,992 I114N probably damaging Het
Ppp1r7 T G 1: 93,360,818 probably benign Het
Pprc1 T A 19: 46,071,529 Y1503N probably benign Het
Rab30 T C 7: 92,835,722 V132A probably damaging Het
Slc15a4 T C 5: 127,601,960 T439A probably benign Het
Slc29a3 A G 10: 60,723,817 V186A possibly damaging Het
Stxbp5l G A 16: 37,345,092 T88I possibly damaging Het
Tarbp1 A G 8: 126,433,962 V1250A probably benign Het
Tcte2 A T 17: 13,717,562 probably benign Het
Trp53bp1 A T 2: 121,270,319 probably null Het
Vmn1r6 T C 6: 57,002,911 F164S probably damaging Het
Zfp579 C A 7: 4,994,744 R56L probably benign 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
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
X0066:Trpc4 UTSW 3 54194750 missense probably damaging 1.00
Posted On2013-11-18