Incidental Mutation 'R7191:Trpv4'
ID 559588
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 045274-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R7191 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114760213-114796482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114771201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 443 (I443V)
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: I443V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: I443V

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
SMART Domains Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158

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
SMART Domains Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158

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: I396V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: I396V

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: I443V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: I443V

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Get1 A G 16: 95,953,145 (GRCm39) I79V possibly damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Mpzl3 T G 9: 44,966,542 (GRCm39) M1R probably null Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nudcd2 C T 11: 40,627,430 (GRCm39) Q117* probably null Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or5p56 G A 7: 107,589,853 (GRCm39) V94M possibly damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G 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
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
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'- CAGAACTGTTTCCGGACCAG -3'
(R):5'- TCAGCACATCATCCGACGTG -3'

Sequencing Primer
(F):5'- CTGGGCCACACAGTAAATATATG -3'
(R):5'- ACATCATCCGACGTGAGGTGAC -3'
Posted On 2019-06-26