Incidental Mutation 'IGL02115:Trpv4'
ID280336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv4
Ensembl Gene ENSMUSG00000014158
Gene Nametransient receptor potential cation channel, subfamily V, member 4
SynonymsVROAC, 0610033B08Rik, Trp12, VR-OAC, VRL-2, OTRPC4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL02115
Quality Score
Status
Chromosome5
Chromosomal Location114622152-114658421 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114625029 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 773 (D773G)
Ref Sequence ENSEMBL: ENSMUSP00000107844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071968] [ENSMUST00000112217] [ENSMUST00000112219] [ENSMUST00000112222] [ENSMUST00000112225]
Predicted Effect probably damaging
Transcript: ENSMUST00000071968
AA Change: D773G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: D773G

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 damaging
Transcript: ENSMUST00000112217
AA Change: D713G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: D713G

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 damaging
Transcript: ENSMUST00000112219
AA Change: D666G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: D666G

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 damaging
Transcript: ENSMUST00000112222
AA Change: D726G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: D726G

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 damaging
Transcript: ENSMUST00000112225
AA Change: D773G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: D773G

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
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 125,331,609 noncoding transcript Het
Abca7 A T 10: 79,998,079 N76Y probably damaging Het
Apob A G 12: 7,992,923 K755R probably benign Het
BC034090 A T 1: 155,232,651 probably benign Het
Brinp1 T C 4: 68,762,398 T632A probably benign Het
Cdcp1 C A 9: 123,185,397 C104F probably damaging Het
Cfap206 C T 4: 34,722,623 V153I possibly damaging Het
Chd1l A T 3: 97,589,904 probably null Het
Ckb A G 12: 111,669,981 F271L possibly damaging Het
Col6a3 T A 1: 90,807,651 I759L probably damaging Het
Ddr2 A T 1: 169,994,709 M390K probably benign Het
Dhx8 C T 11: 101,752,388 P762L probably damaging Het
Dnah3 A T 7: 120,029,054 V1449E probably damaging Het
Dzip3 T C 16: 48,948,485 I629M probably benign Het
Ep300 T C 15: 81,648,818 I1692T unknown Het
Ercc6 T A 14: 32,576,993 L1446Q probably damaging Het
Gm10092 T C 16: 36,137,623 noncoding transcript Het
Gm6900 A T 7: 10,656,576 noncoding transcript Het
Gpr149 T C 3: 62,594,915 T507A probably benign Het
Hmcn1 T A 1: 150,630,728 D3776V probably damaging Het
Irgm2 A G 11: 58,220,122 E225G probably benign Het
Kif14 T C 1: 136,496,567 probably benign Het
Klhl22 T C 16: 17,776,595 V196A probably damaging Het
Lig4 T C 8: 9,973,247 S178G possibly damaging Het
Lzts2 A G 19: 45,026,370 probably benign Het
Mcoln3 C T 3: 146,137,301 S380L probably damaging Het
Med12l A T 3: 59,068,319 T223S probably benign Het
Mrpl54 A G 10: 81,265,649 probably null Het
Myo1c A T 11: 75,661,591 I397F probably damaging Het
Nbas A T 12: 13,317,692 probably benign Het
Ncoa2 G A 1: 13,152,817 H1195Y probably damaging Het
Nol3 A G 8: 105,279,631 M171V probably benign Het
Olfr167 A T 16: 19,515,103 C178S probably damaging Het
Olfr593 A G 7: 103,212,474 T194A probably damaging Het
Pdpr C T 8: 111,103,998 L107F probably damaging Het
Ppfibp2 G A 7: 107,739,318 probably benign Het
Rusc2 T C 4: 43,426,136 probably benign Het
Sdk2 G T 11: 113,834,813 probably benign Het
Sema7a T C 9: 57,960,900 C539R probably damaging Het
Senp6 T C 9: 80,121,926 C524R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc15a1 A T 14: 121,480,661 Y269N possibly damaging Het
Synj2 T A 17: 6,017,590 Y113N probably damaging Het
Tm6sf1 A T 7: 81,875,803 Y172F probably damaging Het
Ttc39a A G 4: 109,426,294 probably benign Het
Tut1 C T 19: 8,965,312 R588W probably damaging Het
Unc79 A T 12: 102,998,674 Y74F probably damaging Het
Usp53 A T 3: 122,947,390 I737K probably benign Het
Vmn2r67 A T 7: 85,151,579 M383K probably damaging Het
Zc3h4 A G 7: 16,425,783 D426G unknown Het
Zfp622 A G 15: 25,987,200 N308S probably damaging Het
Other mutations in Trpv4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Trpv4 APN 5 114628625 missense probably damaging 1.00
IGL01804:Trpv4 APN 5 114644786 missense possibly damaging 0.77
IGL01955:Trpv4 APN 5 114622682 nonsense probably null
IGL02375:Trpv4 APN 5 114636357 missense probably benign 0.10
IGL02870:Trpv4 APN 5 114625056 missense probably damaging 1.00
PIT4472001:Trpv4 UTSW 5 114626923 missense probably damaging 0.99
R0045:Trpv4 UTSW 5 114636457 missense probably benign
R0045:Trpv4 UTSW 5 114636457 missense probably benign
R0217:Trpv4 UTSW 5 114634661 missense possibly damaging 0.68
R0346:Trpv4 UTSW 5 114630529 splice site probably benign
R0358:Trpv4 UTSW 5 114630432 missense probably damaging 1.00
R1745:Trpv4 UTSW 5 114633154 missense probably damaging 1.00
R1880:Trpv4 UTSW 5 114623626 missense probably benign 0.00
R1881:Trpv4 UTSW 5 114623626 missense probably benign 0.00
R2018:Trpv4 UTSW 5 114634605 missense probably damaging 1.00
R2093:Trpv4 UTSW 5 114635504 missense probably damaging 1.00
R2172:Trpv4 UTSW 5 114644710 missense probably damaging 1.00
R2679:Trpv4 UTSW 5 114635552 missense probably damaging 1.00
R3699:Trpv4 UTSW 5 114634800 missense probably damaging 1.00
R4731:Trpv4 UTSW 5 114622753 missense possibly damaging 0.81
R4732:Trpv4 UTSW 5 114622753 missense possibly damaging 0.81
R4733:Trpv4 UTSW 5 114622753 missense possibly damaging 0.81
R4822:Trpv4 UTSW 5 114630022 missense possibly damaging 0.66
R4985:Trpv4 UTSW 5 114622732 missense probably benign 0.00
R4987:Trpv4 UTSW 5 114622732 missense probably benign 0.00
R5026:Trpv4 UTSW 5 114622654 makesense probably null
R5105:Trpv4 UTSW 5 114626920 missense probably damaging 1.00
R5236:Trpv4 UTSW 5 114622795 missense possibly damaging 0.81
R5330:Trpv4 UTSW 5 114635543 missense probably damaging 1.00
R5331:Trpv4 UTSW 5 114635543 missense probably damaging 1.00
R5396:Trpv4 UTSW 5 114623614 missense possibly damaging 0.77
R5423:Trpv4 UTSW 5 114636445 missense probably benign 0.25
R5667:Trpv4 UTSW 5 114634556 missense probably damaging 1.00
R5896:Trpv4 UTSW 5 114622647 utr 3 prime probably benign
R6239:Trpv4 UTSW 5 114644826 missense probably benign
R6762:Trpv4 UTSW 5 114625110 missense probably benign 0.07
R6952:Trpv4 UTSW 5 114633202 missense probably damaging 1.00
R7191:Trpv4 UTSW 5 114633140 missense probably benign
R7343:Trpv4 UTSW 5 114636459 missense probably benign 0.42
Posted On2015-04-16