Incidental Mutation 'R8871:Trpv4'
ID 676274
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 068685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8871 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114760213-114796482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114768511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 519 (F519S)
Ref Sequence ENSEMBL: ENSMUSP00000071859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071968] [ENSMUST00000112217] [ENSMUST00000112219] [ENSMUST00000112222] [ENSMUST00000112225]
AlphaFold Q9EPK8
Predicted Effect probably benign
Transcript: ENSMUST00000071968
AA Change: F519S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: F519S

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 benign
Transcript: ENSMUST00000112217
AA Change: F459S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: F459S

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 benign
Transcript: ENSMUST00000112219
AA Change: F412S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: F412S

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 benign
Transcript: ENSMUST00000112222
AA Change: F472S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: F472S

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 benign
Transcript: ENSMUST00000112225
AA Change: F519S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: F519S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 99% (76/77)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,248,071 (GRCm39) M2606R probably benign Het
Abcg5 C T 17: 84,990,295 (GRCm39) E3K probably benign Het
Adam20 A C 8: 41,248,601 (GRCm39) H237P probably damaging Het
Alg3 T C 16: 20,424,684 (GRCm39) Y361C probably damaging Het
Ano8 A T 8: 71,931,944 (GRCm39) Y752N probably benign Het
AW551984 A T 9: 39,500,998 (GRCm39) L759* probably null Het
Bdp1 A C 13: 100,186,175 (GRCm39) V1759G probably damaging Het
Bicdl2 C A 17: 23,885,777 (GRCm39) Q273K probably damaging Het
Cc2d2a A T 5: 43,857,285 (GRCm39) T491S possibly damaging Het
Cdkl2 A G 5: 92,164,989 (GRCm39) S545P possibly damaging Het
Ceacam5 T A 7: 17,494,827 (GRCm39) I945K probably benign Het
Celf1 A G 2: 90,840,840 (GRCm39) Y369C probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col14a1 T G 15: 55,245,958 (GRCm39) D487E unknown Het
Crybg3 T C 16: 59,378,519 (GRCm39) N912D probably benign Het
Cstl1 A G 2: 148,596,554 (GRCm39) T86A probably damaging Het
Dixdc1 C T 9: 50,595,096 (GRCm39) V482M possibly damaging Het
Dmbt1 T C 7: 130,718,597 (GRCm39) Y1773H unknown Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Fbln2 A T 6: 91,233,215 (GRCm39) probably null Het
Fbxo16 A G 14: 65,531,348 (GRCm39) E84G probably damaging Het
Fras1 T A 5: 96,855,257 (GRCm39) V1922D probably benign Het
G6pc3 A G 11: 102,082,896 (GRCm39) H85R probably damaging Het
Galc A T 12: 98,212,543 (GRCm39) N197K probably damaging Het
Galnt12 T G 4: 47,108,582 (GRCm39) probably null Het
Gm10220 T A 5: 26,322,863 (GRCm39) Q183L probably benign Het
Gxylt2 A G 6: 100,760,109 (GRCm39) T215A probably damaging Het
Hnrnpf T G 6: 117,900,811 (GRCm39) S32A probably benign Het
Hspa1l T C 17: 35,197,799 (GRCm39) Y613H probably benign Het
Il1r2 T A 1: 40,144,424 (GRCm39) V37D probably benign Het
Itga11 C A 9: 62,668,823 (GRCm39) Y693* probably null Het
Itgax T A 7: 127,735,223 (GRCm39) F459L probably damaging Het
Jph1 A G 1: 17,067,719 (GRCm39) V656A possibly damaging Het
Kcnn4 A T 7: 24,083,500 (GRCm39) I394F possibly damaging Het
Kdelr3 T A 15: 79,410,044 (GRCm39) Y176* probably null Het
Kif13a T C 13: 46,984,279 (GRCm39) D162G probably damaging Het
Klhdc8b G A 9: 108,326,871 (GRCm39) P164S probably damaging Het
Lmbrd1 A T 1: 24,783,435 (GRCm39) Q357L probably damaging Het
Lrrc37a T C 11: 103,347,375 (GRCm39) M3107V unknown Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,552 (GRCm39) probably benign Het
Muc16 C A 9: 18,567,344 (GRCm39) G1725V unknown Het
Myo5c T C 9: 75,185,585 (GRCm39) S983P probably benign Het
Naip1 G A 13: 100,580,146 (GRCm39) H217Y probably damaging Het
Nlrc3 T C 16: 3,781,968 (GRCm39) probably benign Het
Nrl A T 14: 55,758,184 (GRCm39) L181Q probably damaging Het
Olig1 T C 16: 91,067,545 (GRCm39) *261R probably null Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or2l13b T C 16: 19,349,536 (GRCm39) I45V Het
Or8j3c T C 2: 86,253,697 (GRCm39) M108V probably benign Het
Oscp1 T A 4: 125,952,535 (GRCm39) L21Q probably damaging Het
Oxct1 G A 15: 4,064,763 (GRCm39) V34I probably benign Het
Pdzph1 A G 17: 59,195,033 (GRCm39) L1074P probably damaging Het
Pkd1l1 T A 11: 8,900,503 (GRCm39) S463C Het
Pnpla3 G A 15: 84,063,509 (GRCm39) E296K probably benign Het
Prss35 T G 9: 86,637,244 (GRCm39) L5V possibly damaging Het
Rbck1 T C 2: 152,164,096 (GRCm39) E336G possibly damaging Het
Rgl2 G A 17: 34,153,974 (GRCm39) R460Q probably damaging Het
Rmi1 T A 13: 58,557,156 (GRCm39) N468K probably benign Het
Rptor T A 11: 119,494,751 (GRCm39) I39N probably benign Het
S1pr1 A G 3: 115,505,628 (GRCm39) F322S probably damaging Het
Scgb1b10 T A 7: 31,800,544 (GRCm39) Y44* probably null Het
Setx A G 2: 29,038,114 (GRCm39) D1533G probably benign Het
Sf3b1 A G 1: 55,029,508 (GRCm39) Y1165H probably damaging Het
Sgcz A T 8: 38,420,103 (GRCm39) Y50N probably damaging Het
Sh3gl2 C A 4: 85,305,817 (GRCm39) P227Q Het
She T C 3: 89,759,795 (GRCm39) probably null Het
Slc9a4 T C 1: 40,642,015 (GRCm39) I328T probably damaging Het
Sort1 G A 3: 108,262,887 (GRCm39) probably null Het
Srebf1 A G 11: 60,091,595 (GRCm39) S977P probably benign Het
Srsf9 T C 5: 115,468,712 (GRCm39) V116A probably damaging Het
Tex15 G A 8: 34,066,992 (GRCm39) V2141I possibly damaging Het
Tmprss13 A T 9: 45,249,704 (GRCm39) H347L probably damaging Het
Trrap A G 5: 144,758,649 (GRCm39) T2159A probably benign Het
Vmn1r36 A T 6: 66,693,442 (GRCm39) Y144* probably null Het
Vmn2r10 A G 5: 109,146,899 (GRCm39) I463T possibly damaging Het
Vps13a T A 19: 16,641,186 (GRCm39) N2312I probably damaging Het
Wdr81 A T 11: 75,343,919 (GRCm39) Y449* probably null Het
Zfhx3 A G 8: 109,676,867 (GRCm39) D2639G possibly damaging Het
Zfp120 A G 2: 149,959,995 (GRCm39) V131A probably benign Het
Zfp574 G T 7: 24,780,562 (GRCm39) C528F probably damaging Het
Zfp947 A T 17: 22,364,695 (GRCm39) N326K probably benign 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
R5026:Trpv4 UTSW 5 114,760,715 (GRCm39) makesense probably null
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
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'- CTCCAGGGCATTTCTTCGTG -3'
(R):5'- TCAGCCTGGAGAGACTTTGG -3'

Sequencing Primer
(F):5'- CCAGGGCATTTCTTCGTGAACAAG -3'
(R):5'- CCTGGAGAGACTTTGGGGGAG -3'
Posted On 2021-07-15