Incidental Mutation 'R5026:Trpv4'
ID 391340
Institutional Source Beutler Lab
Gene Symbol Trpv4
Ensembl Gene ENSMUSG00000014158
Gene Name transient receptor potential cation channel, subfamily V, member 4
Synonyms VROAC, Trp12, VR-OAC, 0610033B08Rik, OTRPC4, VRL-2
MMRRC Submission 042617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R5026 (G1)
Quality Score 217
Status Validated
Chromosome 5
Chromosomal Location 114760213-114796482 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 114760715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 872 (*872W)
Ref Sequence ENSEMBL: ENSMUSP00000107844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071968] [ENSMUST00000112217] [ENSMUST00000112219] [ENSMUST00000112222] [ENSMUST00000112225]
AlphaFold Q9EPK8
Predicted Effect probably null
Transcript: ENSMUST00000071968
AA Change: *872W
SMART Domains Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: *872W

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Blast:ANK 190 225 2e-11 BLAST
ANK 237 266 2.54e-2 SMART
ANK 284 313 5.58e1 SMART
Blast:ANK 320 356 3e-12 BLAST
ANK 369 398 3.49e0 SMART
low complexity region 415 425 N/A INTRINSIC
Blast:ANK 442 467 1e-6 BLAST
Pfam:Ion_trans 468 730 9.9e-13 PFAM
Blast:PHB 753 804 5e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000112217
AA Change: *812W
SMART Domains Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: *812W

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Blast:ANK 190 225 1e-11 BLAST
ANK 237 266 2.54e-2 SMART
ANK 284 313 5.58e1 SMART
Blast:ANK 320 356 2e-12 BLAST
ANK 369 397 1.02e3 SMART
transmembrane domain 409 431 N/A INTRINSIC
Pfam:Ion_trans 455 658 3.3e-8 PFAM
Blast:PHB 693 744 4e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000112219
AA Change: *765W
SMART Domains Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: *765W

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Blast:ANK 190 225 2e-11 BLAST
ANK 237 266 4.86e1 SMART
Blast:ANK 273 309 2e-12 BLAST
ANK 322 350 1.02e3 SMART
transmembrane domain 362 384 N/A INTRINSIC
Pfam:Ion_trans 408 611 3e-8 PFAM
Blast:PHB 646 697 4e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000112222
AA Change: *825W
SMART Domains Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: *825W

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Blast:ANK 190 225 2e-11 BLAST
ANK 237 266 4.86e1 SMART
Blast:ANK 273 309 2e-12 BLAST
ANK 322 351 3.49e0 SMART
low complexity region 368 378 N/A INTRINSIC
Blast:ANK 395 420 1e-6 BLAST
Pfam:Ion_trans 468 671 3.4e-8 PFAM
Blast:PHB 706 757 5e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000112225
AA Change: *872W
SMART Domains Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: *872W

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Blast:ANK 190 225 2e-11 BLAST
ANK 237 266 2.54e-2 SMART
ANK 284 313 5.58e1 SMART
Blast:ANK 320 356 3e-12 BLAST
ANK 369 398 3.49e0 SMART
low complexity region 415 425 N/A INTRINSIC
Blast:ANK 442 467 1e-6 BLAST
Pfam:Ion_trans 515 718 3.4e-8 PFAM
Blast:PHB 753 804 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141828
Meta Mutation Damage Score 0.8586 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.7%
Validation Efficiency 96% (88/92)
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 OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,356,383 (GRCm39) N608S probably benign Het
Actg1 T C 11: 120,237,784 (GRCm39) N7S probably damaging Het
Adamtsl3 T A 7: 82,225,262 (GRCm39) L357Q probably benign Het
Ahnak A T 19: 8,987,995 (GRCm39) Q3093L possibly damaging Het
Ankrd16 T A 2: 11,794,692 (GRCm39) V359E probably benign Het
Ankrd40 T C 11: 94,230,550 (GRCm39) probably benign Het
Ano10 G A 9: 122,101,625 (GRCm39) Q49* probably null Het
Aoah A T 13: 21,099,129 (GRCm39) D236V probably damaging Het
Bin1 T C 18: 32,552,983 (GRCm39) probably null Het
Braf T C 6: 39,665,221 (GRCm39) D49G probably benign Het
Brsk1 A T 7: 4,707,265 (GRCm39) R273W probably damaging Het
C2cd3 T A 7: 100,109,049 (GRCm39) M2259K possibly damaging Het
Cabp1 T C 5: 115,313,531 (GRCm39) N43D possibly damaging Het
Ccar2 T A 14: 70,379,951 (GRCm39) Q412L possibly damaging Het
Cd4 T C 6: 124,843,583 (GRCm39) T443A possibly damaging Het
Cdh23 T A 10: 60,140,627 (GRCm39) I3206F possibly damaging Het
Ceacam9 A T 7: 16,459,122 (GRCm39) probably null Het
Chid1 T C 7: 141,093,749 (GRCm39) D289G probably damaging Het
Chmp6 T A 11: 119,809,469 (GRCm39) L196Q probably damaging Het
Cog8 A G 8: 107,775,757 (GRCm39) S536P probably benign Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah7a T G 1: 53,701,657 (GRCm39) Y166S probably damaging Het
Dnah7b G T 1: 46,226,523 (GRCm39) W1318L probably damaging Het
Ecd A G 14: 20,387,098 (GRCm39) F212S probably damaging Het
Entpd6 A T 2: 150,605,564 (GRCm39) S265C probably damaging Het
Epb41l2 A G 10: 25,360,206 (GRCm39) T523A possibly damaging Het
Focad T C 4: 88,262,819 (GRCm39) S939P unknown Het
Gjb3 A T 4: 127,220,280 (GRCm39) V84D probably damaging Het
Gm572 A T 4: 148,739,301 (GRCm39) E43V possibly damaging Het
Gm6185 T A 1: 161,052,178 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,201,522 (GRCm39) C787S probably damaging Het
Grpel2 A G 18: 61,849,024 (GRCm39) L162P probably damaging Het
Herc1 A G 9: 66,393,408 (GRCm39) T4096A probably benign Het
Hook3 A T 8: 26,600,785 (GRCm39) M41K probably damaging Het
Ifit1bl1 T C 19: 34,571,293 (GRCm39) Y388C probably damaging Het
Ighv3-4 A G 12: 114,217,382 (GRCm39) Y70H probably benign Het
Itm2c T C 1: 85,834,213 (GRCm39) L176P probably damaging Het
Lmtk3 G A 7: 45,443,836 (GRCm39) probably benign Het
Macf1 G A 4: 123,333,287 (GRCm39) T2376I possibly damaging Het
Map1a T G 2: 121,138,019 (GRCm39) S2660A possibly damaging Het
Mmrn2 A G 14: 34,121,158 (GRCm39) H676R probably benign Het
Nbeal1 A T 1: 60,276,338 (GRCm39) K693M probably damaging Het
Ndufa13 T A 8: 70,347,920 (GRCm39) R49* probably null Het
Neb T A 2: 52,094,892 (GRCm39) T1115S possibly damaging Het
Nvl C T 1: 180,932,720 (GRCm39) R699H probably damaging Het
Or10w1 A G 19: 13,632,296 (GRCm39) I163V probably benign Het
Or5d47 A T 2: 87,804,364 (GRCm39) I215N probably damaging Het
Or8b53 A G 9: 38,667,041 (GRCm39) D19G probably benign Het
Or8d2b A T 9: 38,789,195 (GRCm39) H241L possibly damaging Het
Piezo1 G T 8: 123,213,557 (GRCm39) D1779E probably benign Het
Prl8a9 A G 13: 27,745,560 (GRCm39) S77P probably damaging Het
Prune2 A T 19: 17,176,506 (GRCm39) I2904F probably damaging Het
Retreg1 T A 15: 25,970,214 (GRCm39) S151T probably damaging Het
Rnf213 A G 11: 119,327,590 (GRCm39) D1859G probably damaging Het
Rnf39 T C 17: 37,256,426 (GRCm39) F173L probably benign Het
Rspry1 T A 8: 95,376,931 (GRCm39) N371K probably damaging Het
Samd9l T A 6: 3,375,284 (GRCm39) D659V possibly damaging Het
Sez6 T A 11: 77,859,815 (GRCm39) F378Y probably damaging Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Slit2 A T 5: 48,414,147 (GRCm39) N917I probably damaging Het
Smg1 T A 7: 117,792,768 (GRCm39) probably benign Het
Tes T C 6: 17,096,339 (GRCm39) V24A probably benign Het
Tial1 C T 7: 128,050,120 (GRCm39) E82K probably damaging Het
Tmem94 G A 11: 115,683,930 (GRCm39) C750Y probably damaging Het
Tmppe T A 9: 114,234,887 (GRCm39) N395K possibly damaging Het
Tnn T C 1: 159,973,707 (GRCm39) H220R probably benign Het
Trappc10 T C 10: 78,040,122 (GRCm39) T610A possibly damaging Het
Trmt1l T A 1: 151,316,627 (GRCm39) M196K probably damaging Het
Ttn T C 2: 76,579,353 (GRCm39) T23847A probably benign Het
Ube4b T A 4: 149,445,022 (GRCm39) L440F probably damaging Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Unc13c T A 9: 73,838,185 (GRCm39) T889S possibly damaging Het
Vmn1r215 C T 13: 23,260,449 (GRCm39) T163I probably benign Het
Vmn2r16 T A 5: 109,508,722 (GRCm39) Y483* probably null Het
Wdr47 T A 3: 108,525,838 (GRCm39) C120* probably null Het
Zc3h6 G A 2: 128,859,229 (GRCm39) V1087I probably benign Het
Zfp423 T C 8: 88,507,302 (GRCm39) H889R probably damaging Het
Zfp825 G T 13: 74,629,196 (GRCm39) H107N probably benign Het
Zfp945 T C 17: 23,069,859 (GRCm39) H680R probably damaging Het
Other mutations in Trpv4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Trpv4 APN 5 114,766,686 (GRCm39) missense probably damaging 1.00
IGL01804:Trpv4 APN 5 114,782,847 (GRCm39) missense possibly damaging 0.77
IGL01955:Trpv4 APN 5 114,760,743 (GRCm39) nonsense probably null
IGL02115:Trpv4 APN 5 114,763,090 (GRCm39) missense probably damaging 1.00
IGL02375:Trpv4 APN 5 114,774,418 (GRCm39) missense probably benign 0.10
IGL02870:Trpv4 APN 5 114,763,117 (GRCm39) missense probably damaging 1.00
PIT4472001:Trpv4 UTSW 5 114,764,984 (GRCm39) missense probably damaging 0.99
R0045:Trpv4 UTSW 5 114,774,518 (GRCm39) missense probably benign
R0045:Trpv4 UTSW 5 114,774,518 (GRCm39) missense probably benign
R0217:Trpv4 UTSW 5 114,772,722 (GRCm39) missense possibly damaging 0.68
R0346:Trpv4 UTSW 5 114,768,590 (GRCm39) splice site probably benign
R0358:Trpv4 UTSW 5 114,768,493 (GRCm39) missense probably damaging 1.00
R1745:Trpv4 UTSW 5 114,771,215 (GRCm39) missense probably damaging 1.00
R1880:Trpv4 UTSW 5 114,761,687 (GRCm39) missense probably benign 0.00
R1881:Trpv4 UTSW 5 114,761,687 (GRCm39) missense probably benign 0.00
R2018:Trpv4 UTSW 5 114,772,666 (GRCm39) missense probably damaging 1.00
R2093:Trpv4 UTSW 5 114,773,565 (GRCm39) missense probably damaging 1.00
R2172:Trpv4 UTSW 5 114,782,771 (GRCm39) missense probably damaging 1.00
R2679:Trpv4 UTSW 5 114,773,613 (GRCm39) missense probably damaging 1.00
R3699:Trpv4 UTSW 5 114,772,861 (GRCm39) missense probably damaging 1.00
R4731:Trpv4 UTSW 5 114,760,814 (GRCm39) missense possibly damaging 0.81
R4732:Trpv4 UTSW 5 114,760,814 (GRCm39) missense possibly damaging 0.81
R4733:Trpv4 UTSW 5 114,760,814 (GRCm39) missense possibly damaging 0.81
R4822:Trpv4 UTSW 5 114,768,083 (GRCm39) missense possibly damaging 0.66
R4985:Trpv4 UTSW 5 114,760,793 (GRCm39) missense probably benign 0.00
R4987:Trpv4 UTSW 5 114,760,793 (GRCm39) missense probably benign 0.00
R5105:Trpv4 UTSW 5 114,764,981 (GRCm39) missense probably damaging 1.00
R5236:Trpv4 UTSW 5 114,760,856 (GRCm39) missense possibly damaging 0.81
R5330:Trpv4 UTSW 5 114,773,604 (GRCm39) missense probably damaging 1.00
R5331:Trpv4 UTSW 5 114,773,604 (GRCm39) missense probably damaging 1.00
R5396:Trpv4 UTSW 5 114,761,675 (GRCm39) missense possibly damaging 0.77
R5423:Trpv4 UTSW 5 114,774,506 (GRCm39) missense probably benign 0.25
R5667:Trpv4 UTSW 5 114,772,617 (GRCm39) missense probably damaging 1.00
R5896:Trpv4 UTSW 5 114,760,708 (GRCm39) utr 3 prime probably benign
R6239:Trpv4 UTSW 5 114,782,887 (GRCm39) missense probably benign
R6762:Trpv4 UTSW 5 114,763,171 (GRCm39) missense probably benign 0.07
R6952:Trpv4 UTSW 5 114,771,263 (GRCm39) missense probably damaging 1.00
R7191:Trpv4 UTSW 5 114,771,201 (GRCm39) missense probably benign
R7343:Trpv4 UTSW 5 114,774,520 (GRCm39) missense probably benign 0.42
R7951:Trpv4 UTSW 5 114,760,871 (GRCm39) missense probably benign 0.33
R8551:Trpv4 UTSW 5 114,768,900 (GRCm39) missense possibly damaging 0.96
R8803:Trpv4 UTSW 5 114,772,816 (GRCm39) missense probably benign 0.08
R8871:Trpv4 UTSW 5 114,768,511 (GRCm39) missense probably benign 0.00
R9228:Trpv4 UTSW 5 114,772,622 (GRCm39) missense probably benign 0.02
R9250:Trpv4 UTSW 5 114,764,941 (GRCm39) missense probably damaging 1.00
R9291:Trpv4 UTSW 5 114,768,068 (GRCm39) missense probably benign
R9304:Trpv4 UTSW 5 114,782,702 (GRCm39) nonsense probably null
R9383:Trpv4 UTSW 5 114,796,474 (GRCm39) start gained probably benign
R9654:Trpv4 UTSW 5 114,764,887 (GRCm39) missense probably benign 0.26
R9697:Trpv4 UTSW 5 114,771,285 (GRCm39) missense possibly damaging 0.94
R9712:Trpv4 UTSW 5 114,771,211 (GRCm39) nonsense probably null
Z1177:Trpv4 UTSW 5 114,772,673 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGAAGGCAAAAGTCTTGG -3'
(R):5'- TACTCAGTGGTGCTCAATGC -3'

Sequencing Primer
(F):5'- CAAAAGTCTTGGCGGGGAC -3'
(R):5'- AATGCTTGCACGGCCTATTAAC -3'
Posted On 2016-06-06