Incidental Mutation 'IGL01348:Trpv1'
ID75193
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: 0.286) question?
Stock #IGL01348
Quality Score
Status
Chromosome11
Chromosomal Location73234292-73261242 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 73238252 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470] [ENSMUST00000138853]
Predicted Effect probably null
Transcript: ENSMUST00000006106
SMART Domains Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952

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
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952

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 benign
Transcript: ENSMUST00000108470
SMART Domains Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952

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
Predicted Effect probably benign
Transcript: ENSMUST00000138853
SMART Domains Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952

DomainStartEndE-ValueType
ANK 25 55 6.17e-1 SMART
Pfam:Ion_trans 171 375 1.8e-8 PFAM
Blast:PHB 410 456 6e-9 BLAST
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,213 E140G probably null Het
8030462N17Rik A G 18: 77,673,917 I233T possibly damaging Het
Adgrl3 A G 5: 81,726,723 T956A probably damaging Het
Aff4 G A 11: 53,402,500 S772N probably benign Het
Atad5 A G 11: 80,095,564 I492M probably benign Het
Atf4 T C 15: 80,256,527 probably benign Het
Atrip A G 9: 109,069,295 S219P probably damaging Het
Axl G A 7: 25,763,309 R656W probably damaging Het
B3gnt3 T A 8: 71,693,004 Q240L possibly damaging Het
Baz2b A G 2: 59,933,687 V915A possibly damaging Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Cacna1s T C 1: 136,075,152 V329A possibly damaging Het
Celf3 C A 3: 94,488,228 Q388K possibly damaging Het
Ciita T C 16: 10,510,727 S292P probably damaging Het
Clec18a G A 8: 111,071,613 A423V probably damaging Het
Clnk T C 5: 38,713,207 D336G probably damaging Het
Csmd1 T G 8: 15,910,596 H3273P probably damaging Het
Cyp3a11 A T 5: 145,869,007 V157E possibly damaging Het
Dcp1b T C 6: 119,183,718 I87T probably damaging Het
Ell3 A G 2: 121,441,796 S66P probably damaging Het
Ercc4 T C 16: 13,132,934 F631L probably damaging Het
Etl4 T A 2: 20,806,973 V1289D probably damaging Het
Gm16372 T C 12: 24,493,607 probably benign Het
Gm4553 C T 7: 142,165,172 C173Y unknown Het
Gm8989 T A 7: 106,329,835 H285L unknown Het
Gykl1 A T 18: 52,694,736 I339F possibly damaging Het
H60b A C 10: 22,286,179 N101T possibly damaging Het
Inpp4a C T 1: 37,388,905 T407I probably damaging Het
Itga11 A G 9: 62,744,579 N331S possibly damaging Het
Kbtbd6 T A 14: 79,453,343 C430S probably damaging Het
Mfsd4a T C 1: 132,067,826 S1G probably null Het
Mybpc2 C A 7: 44,515,928 M372I probably benign Het
Myh10 A T 11: 68,811,803 T1768S probably benign Het
Myh8 A G 11: 67,297,780 K1063E probably damaging Het
Nat8f5 A T 6: 85,817,880 F33I probably damaging Het
Nbeal2 T G 9: 110,629,146 N2119T probably damaging Het
Nek11 C T 9: 105,392,913 G37S probably damaging Het
Npc1l1 T C 11: 6,227,974 N479D probably damaging Het
Nup160 A G 2: 90,700,428 T477A probably benign Het
Olfr121 A T 17: 37,752,286 H144L probably benign Het
Olfr186 T A 16: 59,027,794 T38S probably damaging Het
Pcgf2 A G 11: 97,690,240 V259A probably benign Het
Pmm1 A G 15: 81,952,018 V131A probably damaging Het
Polr3a A T 14: 24,461,763 D908E probably damaging Het
Psg29 A C 7: 17,210,673 R369S probably benign Het
Ptprq T A 10: 107,711,904 D211V probably damaging Het
Rdh9 A G 10: 127,776,792 N103S probably benign Het
Riok3 T C 18: 12,152,963 probably benign Het
Serpinb1b A T 13: 33,091,415 Q174H probably benign Het
Sgip1 G T 4: 102,915,156 probably null Het
Sgpp1 A T 12: 75,734,993 Y191N probably damaging Het
Slc12a1 A G 2: 125,194,131 N641S probably damaging Het
Slc5a4b T C 10: 76,070,588 N399S probably damaging Het
Snx16 C T 3: 10,419,159 A335T probably damaging Het
Sos2 C T 12: 69,618,092 R355H probably damaging Het
Szt2 A G 4: 118,393,624 probably benign Het
Tbcd T A 11: 121,497,076 D344E probably benign Het
Tek C A 4: 94,859,658 Q988K probably damaging Het
Tgm6 A G 2: 130,137,379 D143G probably damaging Het
Tpx2 A G 2: 152,893,591 K713R probably damaging Het
Trappc9 T A 15: 72,937,009 E556V possibly damaging Het
Trpm6 A T 19: 18,877,651 K1891N probably damaging Het
Usp37 T C 1: 74,461,702 S567G probably damaging Het
Zfp773 A T 7: 7,135,315 V107D possibly damaging Het
Other mutations in Trpv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Trpv1 APN 11 73260362 missense probably damaging 0.99
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
R7991:Trpv1 UTSW 11 73241757 missense possibly damaging 0.93
R8213:Trpv1 UTSW 11 73254251 missense probably damaging 1.00
R8261:Trpv1 UTSW 11 73254767 critical splice acceptor site probably null
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 On2013-10-07