Incidental Mutation 'IGL00160:Trpv1'
ID306574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv1
Ensembl Gene ENSMUSG00000005952
Gene Nametransient receptor potential cation channel, subfamily V, member 1
SynonymsOTRPC1, VR-1, capsaicin receptor, Vr1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.424) question?
Stock #IGL00160
Quality Score
Status
Chromosome11
Chromosomal Location73234292-73261242 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 73260362 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 424 (A424V)
Ref Sequence ENSEMBL: ENSMUSP00000104110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470]
Predicted Effect probably benign
Transcript: ENSMUST00000006106
AA Change: A732V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: A732V

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
ANK 154 186 1.6e2 SMART
ANK 201 230 5.62e-4 SMART
ANK 248 277 2.3e0 SMART
Blast:ANK 285 321 4e-8 BLAST
Blast:ANK 334 370 6e-9 BLAST
PDB:3J5R|D 339 660 N/A PDB
Blast:PHB 658 704 1e-8 BLAST
PDB:3SUI|B 708 742 1e-15 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000102526
AA Change: A792V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: A792V

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
ANK 154 186 1.6e2 SMART
ANK 201 230 5.62e-4 SMART
ANK 248 277 2.3e0 SMART
Blast:ANK 285 321 5e-8 BLAST
ANK 333 363 6.17e-1 SMART
Pfam:Ion_trans 432 695 3e-12 PFAM
Blast:PHB 718 764 1e-8 BLAST
PDB:3SUI|B 768 802 1e-15 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000108470
AA Change: A424V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: A424V

DomainStartEndE-ValueType
Blast:ANK 26 62 4e-9 BLAST
Pfam:Ion_trans 111 315 1.8e-8 PFAM
Blast:PHB 350 396 6e-9 BLAST
PDB:3SUI|B 400 434 1e-15 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,321,002 K133E possibly damaging Het
4931406P16Rik G A 7: 34,239,006 H1035Y possibly damaging Het
4932414N04Rik C T 2: 68,732,875 A387V probably benign Het
Adamts3 C T 5: 89,861,325 V160I probably damaging Het
Arhgef26 T C 3: 62,340,383 V296A probably benign Het
Bdp1 A T 13: 100,061,198 M893K probably benign Het
Camk2d T A 3: 126,838,272 C407* probably null Het
Casc1 T A 6: 145,175,290 H601L probably benign Het
Ces1h T C 8: 93,357,463 D373G probably benign Het
Ces2f A T 8: 104,949,973 N100Y probably damaging Het
Ces2f A T 8: 104,949,972 Q99H probably damaging Het
Dlg5 T C 14: 24,191,161 T223A probably damaging Het
Dnmt3l A G 10: 78,057,355 D322G probably damaging Het
Fbxl20 C T 11: 98,090,674 G396D possibly damaging Het
Gldc T C 19: 30,115,240 T760A probably damaging Het
Gm6483 T A 8: 19,691,647 noncoding transcript Het
Hcrtr2 A T 9: 76,228,155 V460D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mrgpra2a A T 7: 47,426,538 M324K probably damaging Het
N4bp3 C T 11: 51,645,316 A230T probably benign Het
Nphs1 T G 7: 30,482,551 W1204G possibly damaging Het
Obscn C A 11: 59,002,057 A6788S probably benign Het
Ofcc1 T C 13: 40,142,804 D518G probably damaging Het
Optc T C 1: 133,902,108 Y188C probably damaging Het
Prss45 C A 9: 110,841,005 A285E probably damaging Het
Rcan2 C T 17: 44,037,069 T223I possibly damaging Het
Snrnp70 A G 7: 45,377,354 probably null Het
Sorbs1 T A 19: 40,318,029 T1064S probably damaging Het
Sptb T C 12: 76,623,169 K462E probably damaging Het
Sstr1 A G 12: 58,212,750 E53G probably benign Het
Stxbp2 A T 8: 3,636,354 probably null Het
Tex35 G A 1: 157,099,756 probably benign Het
Thnsl1 T C 2: 21,212,449 F338S possibly damaging Het
Unc80 A T 1: 66,654,395 H2535L possibly damaging Het
Usp46 T C 5: 74,002,686 E333G probably null Het
Vmn1r27 T C 6: 58,215,134 Y245C probably benign Het
Zfp488 T C 14: 33,971,069 M46V probably benign Het
Zfp566 G T 7: 30,078,511 Q82K probably benign Het
Znhit6 T C 3: 145,578,160 S62P probably damaging Het
Znrf3 T C 11: 5,289,039 H108R probably damaging Het
Other mutations in Trpv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Trpv1 APN 11 73238252 unclassified probably null
IGL01568:Trpv1 APN 11 73238443 missense probably benign 0.01
IGL01638:Trpv1 APN 11 73253329 missense probably damaging 0.98
IGL02092:Trpv1 APN 11 73246079 splice site probably benign
IGL02167:Trpv1 APN 11 73254797 missense probably damaging 1.00
IGL02649:Trpv1 APN 11 73250786 missense probably damaging 1.00
IGL03396:Trpv1 APN 11 73253056 missense probably benign 0.01
IGL03402:Trpv1 APN 11 73239637 missense possibly damaging 0.73
R0112:Trpv1 UTSW 11 73253272 missense probably damaging 1.00
R0433:Trpv1 UTSW 11 73253008 splice site probably benign
R0482:Trpv1 UTSW 11 73239429 missense probably damaging 1.00
R0494:Trpv1 UTSW 11 73260442 missense probably benign
R1401:Trpv1 UTSW 11 73240126 splice site probably null
R2032:Trpv1 UTSW 11 73238385 missense probably benign
R2199:Trpv1 UTSW 11 73240251 missense probably damaging 0.96
R2263:Trpv1 UTSW 11 73241682 missense probably damaging 1.00
R2939:Trpv1 UTSW 11 73254849 missense probably damaging 0.99
R2940:Trpv1 UTSW 11 73254849 missense probably damaging 0.99
R3743:Trpv1 UTSW 11 73254302 missense probably damaging 1.00
R3805:Trpv1 UTSW 11 73253053 missense probably damaging 0.99
R4073:Trpv1 UTSW 11 73250780 missense probably damaging 0.96
R4294:Trpv1 UTSW 11 73240464 missense probably damaging 1.00
R4650:Trpv1 UTSW 11 73238263 missense probably benign 0.04
R4700:Trpv1 UTSW 11 73251284 missense possibly damaging 0.47
R5114:Trpv1 UTSW 11 73241748 missense probably damaging 1.00
R5153:Trpv1 UTSW 11 73238516 missense probably benign 0.32
R5319:Trpv1 UTSW 11 73239589 missense probably damaging 0.99
R5516:Trpv1 UTSW 11 73245983 missense probably benign 0.44
R5845:Trpv1 UTSW 11 73240581 missense probably damaging 1.00
R6134:Trpv1 UTSW 11 73244317 missense probably benign 0.01
R6232:Trpv1 UTSW 11 73250810 missense possibly damaging 0.88
R6383:Trpv1 UTSW 11 73246036 missense probably damaging 1.00
R7200:Trpv1 UTSW 11 73239586 missense probably damaging 1.00
R7319:Trpv1 UTSW 11 73250794 missense probably benign 0.01
R7323:Trpv1 UTSW 11 73260337 missense possibly damaging 0.82
R7361:Trpv1 UTSW 11 73260377 missense probably damaging 0.99
R7373:Trpv1 UTSW 11 73240673 missense probably damaging 1.00
R7444:Trpv1 UTSW 11 73244204 missense possibly damaging 0.89
R7488:Trpv1 UTSW 11 73238529 missense probably benign 0.00
R7513:Trpv1 UTSW 11 73240541 missense probably damaging 1.00
R7762:Trpv1 UTSW 11 73254222 missense probably benign 0.01
X0067:Trpv1 UTSW 11 73244201 critical splice acceptor site probably null
Z1176:Trpv1 UTSW 11 73240188 missense probably damaging 1.00
Z1176:Trpv1 UTSW 11 73240507 missense probably damaging 1.00
Z1177:Trpv1 UTSW 11 73254773 missense probably damaging 1.00
Posted On2015-04-16