Incidental Mutation 'IGL02957:Trpv3'
ID365175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv3
Ensembl Gene ENSMUSG00000043029
Gene Nametransient receptor potential cation channel, subfamily V, member 3
SynonymsNh, VRL3, 1110036I10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02957
Quality Score
Status
Chromosome11
Chromosomal Location73267388-73300363 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73285872 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 359 (Y359C)
Ref Sequence ENSEMBL: ENSMUSP00000053755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049676]
PDB Structure Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000049676
AA Change: Y359C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: Y359C

DomainStartEndE-ValueType
low complexity region 81 92 N/A INTRINSIC
low complexity region 109 122 N/A INTRINSIC
low complexity region 133 153 N/A INTRINSIC
ANK 167 201 1.21e2 SMART
ANK 214 243 3.54e-1 SMART
ANK 261 291 1.36e-2 SMART
ANK 340 370 6.71e-2 SMART
low complexity region 417 431 N/A INTRINSIC
Pfam:Ion_trans 437 689 3.9e-9 PFAM
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 product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik G T 9: 36,637,850 T38K probably benign Het
Abi2 A G 1: 60,470,786 D262G probably damaging Het
Ahcyl1 G T 3: 107,667,642 Q462K probably damaging Het
Btbd11 T A 10: 85,633,837 M405K probably damaging Het
Btbd11 C T 10: 85,631,286 probably benign Het
C8b A G 4: 104,766,455 T20A probably benign Het
Casd1 T A 6: 4,634,068 Y594N possibly damaging Het
Crtc2 C T 3: 90,262,533 P412L probably damaging Het
Cyp3a44 T A 5: 145,779,662 R373* probably null Het
Dnah10 A G 5: 124,763,133 D1277G probably benign Het
Dnah2 A T 11: 69,448,507 V3058E possibly damaging Het
Eif3l T C 15: 79,089,828 L481P probably benign Het
Fbxw7 A T 3: 84,976,237 T573S probably benign Het
Fcgbp C A 7: 28,091,847 Y844* probably null Het
Fcrls C A 3: 87,262,194 V13F possibly damaging Het
Gbx2 T G 1: 89,930,653 S35R probably benign Het
Gm10767 A T 13: 66,908,213 probably benign Het
H2-M9 A G 17: 36,642,157 L86S probably benign Het
Hebp1 C T 6: 135,137,992 G157D probably benign Het
Igf2bp3 C A 6: 49,087,404 V560L probably benign Het
Igsf10 A G 3: 59,330,864 I632T probably damaging Het
Kcnab2 A T 4: 152,435,869 S5T possibly damaging Het
Kcnh5 T C 12: 75,007,665 S502G probably benign Het
Lpcat2 T A 8: 92,875,584 Y224* probably null Het
Mcrip2 A G 17: 25,868,525 V24A probably damaging Het
Mttp T C 3: 138,109,081 K493E possibly damaging Het
Myl7 A G 11: 5,897,137 S139P possibly damaging Het
Npepps C T 11: 97,242,652 R268H probably damaging Het
Oas1c C T 5: 120,805,413 W18* probably null Het
Olfr1328 G T 4: 118,934,119 T241N probably damaging Het
P4ha3 T C 7: 100,318,905 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkhd1l1 T A 15: 44,512,908 W989R probably damaging Het
Podxl A G 6: 31,528,449 probably benign Het
Pot1b T C 17: 55,700,009 Y36C probably damaging Het
Ppme1 A T 7: 100,338,440 I103K possibly damaging Het
Ppp1r12a T C 10: 108,198,918 I108T probably damaging Het
Pramel1 A G 4: 143,397,598 H281R probably benign Het
Prep T C 10: 45,126,030 V427A probably benign Het
Prkce A G 17: 86,496,026 D451G possibly damaging Het
Prrc2c A G 1: 162,706,535 probably benign Het
Rrm2 A G 12: 24,708,441 N32S probably damaging Het
Sema6a A G 18: 47,249,224 L752P probably damaging Het
Sik3 T A 9: 46,195,845 I429N possibly damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Stk32a A T 18: 43,311,992 M284L probably benign Het
Syde2 T C 3: 145,989,179 probably benign Het
Tcta G A 9: 108,305,332 S91F possibly damaging Het
Traf3ip2 A T 10: 39,654,410 T517S probably damaging Het
Vmn1r66 A G 7: 10,274,810 S99P probably damaging Het
Vmn2r8 G A 5: 108,802,225 T252M probably benign Het
Wdr27 A T 17: 14,910,110 probably benign Het
Yipf1 A G 4: 107,336,150 T78A probably damaging Het
Zfp735 A T 11: 73,710,929 Y233F probably benign Het
Other mutations in Trpv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Trpv3 APN 11 73294000 critical splice donor site probably null
IGL01161:Trpv3 APN 11 73296718 splice site probably benign
IGL02130:Trpv3 APN 11 73279770 missense probably benign 0.00
IGL03334:Trpv3 APN 11 73281665 splice site probably benign
R0103:Trpv3 UTSW 11 73293979 missense probably damaging 1.00
R0103:Trpv3 UTSW 11 73293979 missense probably damaging 1.00
R0546:Trpv3 UTSW 11 73297187 missense probably damaging 1.00
R0685:Trpv3 UTSW 11 73296814 splice site probably benign
R0969:Trpv3 UTSW 11 73278938 nonsense probably null
R1748:Trpv3 UTSW 11 73295383 missense possibly damaging 0.84
R1974:Trpv3 UTSW 11 73283688 missense probably damaging 0.99
R2015:Trpv3 UTSW 11 73279827 missense probably damaging 0.97
R3426:Trpv3 UTSW 11 73285941 missense probably damaging 1.00
R3427:Trpv3 UTSW 11 73285941 missense probably damaging 1.00
R3428:Trpv3 UTSW 11 73285941 missense probably damaging 1.00
R3618:Trpv3 UTSW 11 73295455 missense probably damaging 1.00
R3712:Trpv3 UTSW 11 73278954 missense probably benign
R3916:Trpv3 UTSW 11 73283734 missense possibly damaging 0.87
R3917:Trpv3 UTSW 11 73283734 missense possibly damaging 0.87
R3961:Trpv3 UTSW 11 73287420 nonsense probably null
R4242:Trpv3 UTSW 11 73277823 missense probably benign 0.43
R4277:Trpv3 UTSW 11 73296438 missense probably damaging 0.97
R4506:Trpv3 UTSW 11 73295324 missense probably benign 0.40
R4629:Trpv3 UTSW 11 73281789 missense probably damaging 0.99
R4656:Trpv3 UTSW 11 73295414 missense probably damaging 1.00
R5059:Trpv3 UTSW 11 73295323 missense probably benign 0.00
R5121:Trpv3 UTSW 11 73277834 critical splice donor site probably null
R6113:Trpv3 UTSW 11 73286018 missense probably benign 0.10
R6130:Trpv3 UTSW 11 73296483 missense possibly damaging 0.49
R6342:Trpv3 UTSW 11 73283863 missense probably damaging 1.00
R6850:Trpv3 UTSW 11 73291693 missense probably damaging 1.00
R7180:Trpv3 UTSW 11 73277992 missense probably benign
R7434:Trpv3 UTSW 11 73288261 missense probably damaging 0.96
R7440:Trpv3 UTSW 11 73277974 missense probably benign 0.37
R7741:Trpv3 UTSW 11 73288262 missense probably damaging 0.99
R7750:Trpv3 UTSW 11 73286021 missense probably damaging 0.99
R7785:Trpv3 UTSW 11 73277732 missense probably benign 0.43
R8309:Trpv3 UTSW 11 73279921 missense probably damaging 1.00
R8354:Trpv3 UTSW 11 73291622 missense probably damaging 1.00
R8383:Trpv3 UTSW 11 73289301 missense probably benign 0.30
R8443:Trpv3 UTSW 11 73295383 missense possibly damaging 0.84
R8454:Trpv3 UTSW 11 73291622 missense probably damaging 1.00
R8492:Trpv3 UTSW 11 73288209 nonsense probably null
R8556:Trpv3 UTSW 11 73287465 missense probably benign
R8701:Trpv3 UTSW 11 73278936 missense possibly damaging 0.84
R9046:Trpv3 UTSW 11 73285872 missense probably damaging 1.00
Z1186:Trpv3 UTSW 11 73269687 missense probably benign
Z1186:Trpv3 UTSW 11 73278977 missense probably benign
Z1186:Trpv3 UTSW 11 73283676 missense probably benign
Z1187:Trpv3 UTSW 11 73269687 missense probably benign
Z1187:Trpv3 UTSW 11 73278977 missense probably benign
Z1187:Trpv3 UTSW 11 73283676 missense probably benign
Z1188:Trpv3 UTSW 11 73269687 missense probably benign
Z1188:Trpv3 UTSW 11 73278977 missense probably benign
Z1188:Trpv3 UTSW 11 73283676 missense probably benign
Z1189:Trpv3 UTSW 11 73269687 missense probably benign
Z1189:Trpv3 UTSW 11 73278977 missense probably benign
Z1189:Trpv3 UTSW 11 73283676 missense probably benign
Z1190:Trpv3 UTSW 11 73269687 missense probably benign
Z1190:Trpv3 UTSW 11 73278977 missense probably benign
Z1190:Trpv3 UTSW 11 73283676 missense probably benign
Z1191:Trpv3 UTSW 11 73269687 missense probably benign
Z1191:Trpv3 UTSW 11 73278977 missense probably benign
Z1191:Trpv3 UTSW 11 73283676 missense probably benign
Z1192:Trpv3 UTSW 11 73269687 missense probably benign
Z1192:Trpv3 UTSW 11 73278977 missense probably benign
Z1192:Trpv3 UTSW 11 73283676 missense probably benign
Posted On2015-12-18