Incidental Mutation 'R9644:Trpc4'
ID 726122
Institutional Source Beutler Lab
Gene Symbol Trpc4
Ensembl Gene ENSMUSG00000027748
Gene Name transient receptor potential cation channel, subfamily C, member 4
Synonyms Trrp4, Trp4, CCE1, STRPC4
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R9644 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 54063456-54225892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54129699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 155 (Y155C)
Ref Sequence ENSEMBL: ENSMUSP00000029311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]
AlphaFold Q9QUQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000029311
AA Change: Y155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029311
Gene: ENSMUSG00000027748
AA Change: Y155C

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: Y155C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143593
Gene: ENSMUSG00000027748
AA Change: Y155C

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 damaging
Transcript: ENSMUST00000200341
AA Change: Y155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142921
Gene: ENSMUSG00000027748
AA Change: Y155C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C A 4: 152,270,752 (GRCm39) S32* probably null Het
Adam34 T A 8: 44,104,766 (GRCm39) H293L probably damaging Het
Adgrl3 A G 5: 81,872,036 (GRCm39) N910S probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ankrd36 A G 11: 5,593,835 (GRCm39) D480G possibly damaging Het
Aox4 T A 1: 58,267,278 (GRCm39) D185E probably benign Het
Apol8 C A 15: 77,633,695 (GRCm39) V294L probably damaging Het
Arsk G A 13: 76,220,227 (GRCm39) A289V probably damaging Het
Atg101 A G 15: 101,188,447 (GRCm39) D184G probably benign Het
Atp10b C T 11: 43,042,659 (GRCm39) T73I probably damaging Het
Ccn4 T G 15: 66,784,785 (GRCm39) C153G Het
Ccser2 A T 14: 36,601,150 (GRCm39) N411K possibly damaging Het
Cct5 A G 15: 31,601,845 (GRCm39) S3P probably benign Het
Chn1 A T 2: 73,490,184 (GRCm39) I31K probably benign Het
Clec2e T A 6: 129,070,443 (GRCm39) I193L probably benign Het
Crim1 G A 17: 78,587,497 (GRCm39) G201R probably damaging Het
Ctrc A G 4: 141,572,336 (GRCm39) V68A probably damaging Het
Dennd4c T A 4: 86,713,363 (GRCm39) I438N probably damaging Het
Dnah5 T A 15: 28,230,650 (GRCm39) W183R probably damaging Het
Dnali1 T A 4: 124,950,402 (GRCm39) I253F probably damaging Het
Dyrk1b T C 7: 27,881,790 (GRCm39) L83P probably damaging Het
Emx2 T C 19: 59,452,427 (GRCm39) I237T probably benign Het
Enpp3 C T 10: 24,685,801 (GRCm39) R198K probably damaging Het
Epb41l1 C T 2: 156,367,165 (GRCm39) P678L possibly damaging Het
Epm2aip1 C T 9: 111,102,137 (GRCm39) T370I probably damaging Het
Fam184a T G 10: 53,573,342 (GRCm39) Q346P probably damaging Het
Foxi2 A C 7: 135,013,727 (GRCm39) H319P possibly damaging Het
Gatad1 A G 5: 3,691,442 (GRCm39) V250A possibly damaging Het
Gmeb1 T C 4: 131,959,440 (GRCm39) I205V probably benign Het
Gucy2g C G 19: 55,219,537 (GRCm39) V362L probably benign Het
Hace1 T C 10: 45,526,001 (GRCm39) S281P probably benign Het
Helz C A 11: 107,563,687 (GRCm39) A1709D unknown Het
Igf2bp2 T A 16: 21,902,735 (GRCm39) N115Y probably damaging Het
Igkv4-86 C T 6: 68,887,593 (GRCm39) V49I probably benign Het
Kdm2b A T 5: 123,120,842 (GRCm39) V101E probably damaging Het
Kidins220 A G 12: 25,061,018 (GRCm39) D790G probably damaging Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Kif1b A G 4: 149,375,836 (GRCm39) V10A probably damaging Het
Kmt2d A T 15: 98,743,385 (GRCm39) M3925K unknown Het
Mcee G T 7: 64,061,730 (GRCm39) A178S possibly damaging Het
Megf10 A T 18: 57,375,773 (GRCm39) H233L probably benign Het
Meox1 T A 11: 101,769,482 (GRCm39) E238V probably benign Het
Myo5a G A 9: 75,043,631 (GRCm39) G207R probably damaging Het
Nemf T A 12: 69,359,436 (GRCm39) N966I possibly damaging Het
Or10q3 T C 19: 11,848,574 (GRCm39) E2G probably benign Het
Or1j14 A T 2: 36,417,777 (GRCm39) M118L probably damaging Het
Or5b123 G T 19: 13,597,344 (GRCm39) A230S probably benign Het
Or6c204 A G 10: 129,022,738 (GRCm39) I184T possibly damaging Het
Pfas T C 11: 68,883,542 (GRCm39) Q662R probably benign Het
Phf2 G T 13: 49,024,218 (GRCm39) C8* probably null Het
Pkhd1 T A 1: 20,617,690 (GRCm39) N965I probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prb1b T A 6: 132,289,218 (GRCm39) Q202L unknown Het
Prdm8 A T 5: 98,333,638 (GRCm39) T402S probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Prtg T A 9: 72,813,493 (GRCm39) I951K probably damaging Het
Rasgef1b A T 5: 99,380,014 (GRCm39) Y288* probably null Het
Sacs T A 14: 61,443,428 (GRCm39) C1825S probably benign Het
Slc22a12 G C 19: 6,587,673 (GRCm39) P427R probably damaging Het
Slfn3 A G 11: 83,105,728 (GRCm39) Y575C probably damaging Het
St18 C T 1: 6,929,276 (GRCm39) T56I Het
Synrg T C 11: 83,910,696 (GRCm39) L876S probably damaging Het
Tchh T C 3: 93,354,666 (GRCm39) C1369R unknown Het
Tet2 G A 3: 133,193,064 (GRCm39) Q457* probably null Het
Thap12 T C 7: 98,364,495 (GRCm39) V221A probably damaging Het
Tor3a T A 1: 156,501,126 (GRCm39) D104V probably damaging Het
Trpc2 T C 7: 101,744,439 (GRCm39) V737A possibly damaging Het
Tspyl1 T C 10: 34,159,135 (GRCm39) S287P possibly damaging Het
Ube2u TAGAAGAAGAAGAAGAAGAAGAAGAAGA TAGAAGAAGAAGAAGAAGAAGAAGA 4: 100,406,943 (GRCm39) probably benign Het
Ubr2 A G 17: 47,266,706 (GRCm39) probably null Het
Vmn1r238 T A 18: 3,122,635 (GRCm39) T260S probably benign 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
IGL02301:Trpc4 APN 3 54,198,653 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GGGAATTCTCTCCTGCAAGG -3'
(R):5'- CTTCGCTTGACAGGGCAATG -3'

Sequencing Primer
(F):5'- GACAAATGATTTATGGTCCTTGCTCG -3'
(R):5'- CTTGTAGATGTTGAGCCTG -3'
Posted On 2022-09-12