Incidental Mutation 'IGL01348:Trpv1'
ID 75193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv1
Ensembl Gene ENSMUSG00000005952
Gene Name transient receptor potential cation channel, subfamily V, member 1
Synonyms VR-1, capsaicin receptor, Vr1, OTRPC1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01348
Quality Score
Status
Chromosome 11
Chromosomal Location 73125118-73152068 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 73129078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470] [ENSMUST00000138853]
AlphaFold Q704Y3
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: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Nek11 C T 9: 105,270,112 (GRCm39) G37S probably damaging Het
Npc1l1 T C 11: 6,177,974 (GRCm39) N479D probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc12a1 A G 2: 125,036,051 (GRCm39) N641S probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Tpx2 A G 2: 152,735,511 (GRCm39) K713R probably damaging Het
Trappc9 T A 15: 72,808,858 (GRCm39) E556V possibly damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Trpv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Trpv1 APN 11 73,151,188 (GRCm39) missense probably damaging 0.99
IGL01568:Trpv1 APN 11 73,129,269 (GRCm39) missense probably benign 0.01
IGL01638:Trpv1 APN 11 73,144,155 (GRCm39) missense probably damaging 0.98
IGL02092:Trpv1 APN 11 73,136,905 (GRCm39) splice site probably benign
IGL02167:Trpv1 APN 11 73,145,623 (GRCm39) missense probably damaging 1.00
IGL02649:Trpv1 APN 11 73,141,612 (GRCm39) missense probably damaging 1.00
IGL03396:Trpv1 APN 11 73,143,882 (GRCm39) missense probably benign 0.01
IGL03402:Trpv1 APN 11 73,130,463 (GRCm39) missense possibly damaging 0.73
R0112:Trpv1 UTSW 11 73,144,098 (GRCm39) missense probably damaging 1.00
R0433:Trpv1 UTSW 11 73,143,834 (GRCm39) splice site probably benign
R0482:Trpv1 UTSW 11 73,130,255 (GRCm39) missense probably damaging 1.00
R0494:Trpv1 UTSW 11 73,151,268 (GRCm39) missense probably benign
R1401:Trpv1 UTSW 11 73,130,952 (GRCm39) splice site probably null
R2032:Trpv1 UTSW 11 73,129,211 (GRCm39) missense probably benign
R2199:Trpv1 UTSW 11 73,131,077 (GRCm39) missense probably damaging 0.96
R2263:Trpv1 UTSW 11 73,132,508 (GRCm39) missense probably damaging 1.00
R2939:Trpv1 UTSW 11 73,145,675 (GRCm39) missense probably damaging 0.99
R2940:Trpv1 UTSW 11 73,145,675 (GRCm39) missense probably damaging 0.99
R3743:Trpv1 UTSW 11 73,145,128 (GRCm39) missense probably damaging 1.00
R3805:Trpv1 UTSW 11 73,143,879 (GRCm39) missense probably damaging 0.99
R4073:Trpv1 UTSW 11 73,141,606 (GRCm39) missense probably damaging 0.96
R4294:Trpv1 UTSW 11 73,131,290 (GRCm39) missense probably damaging 1.00
R4650:Trpv1 UTSW 11 73,129,089 (GRCm39) missense probably benign 0.04
R4700:Trpv1 UTSW 11 73,142,110 (GRCm39) missense possibly damaging 0.47
R5114:Trpv1 UTSW 11 73,132,574 (GRCm39) missense probably damaging 1.00
R5153:Trpv1 UTSW 11 73,129,342 (GRCm39) missense probably benign 0.32
R5319:Trpv1 UTSW 11 73,130,415 (GRCm39) missense probably damaging 0.99
R5516:Trpv1 UTSW 11 73,136,809 (GRCm39) missense probably benign 0.44
R5845:Trpv1 UTSW 11 73,131,407 (GRCm39) missense probably damaging 1.00
R6134:Trpv1 UTSW 11 73,135,143 (GRCm39) missense probably benign 0.01
R6232:Trpv1 UTSW 11 73,141,636 (GRCm39) missense possibly damaging 0.88
R6383:Trpv1 UTSW 11 73,136,862 (GRCm39) missense probably damaging 1.00
R7200:Trpv1 UTSW 11 73,130,412 (GRCm39) missense probably damaging 1.00
R7319:Trpv1 UTSW 11 73,141,620 (GRCm39) missense probably benign 0.01
R7323:Trpv1 UTSW 11 73,151,163 (GRCm39) missense possibly damaging 0.82
R7361:Trpv1 UTSW 11 73,151,203 (GRCm39) missense probably damaging 0.99
R7373:Trpv1 UTSW 11 73,131,499 (GRCm39) missense probably damaging 1.00
R7444:Trpv1 UTSW 11 73,135,030 (GRCm39) missense possibly damaging 0.89
R7488:Trpv1 UTSW 11 73,129,355 (GRCm39) missense probably benign 0.00
R7513:Trpv1 UTSW 11 73,131,367 (GRCm39) missense probably damaging 1.00
R7762:Trpv1 UTSW 11 73,145,048 (GRCm39) missense probably benign 0.01
R7991:Trpv1 UTSW 11 73,132,583 (GRCm39) missense possibly damaging 0.93
R8213:Trpv1 UTSW 11 73,145,077 (GRCm39) missense probably damaging 1.00
R8261:Trpv1 UTSW 11 73,145,593 (GRCm39) critical splice acceptor site probably null
R8753:Trpv1 UTSW 11 73,135,082 (GRCm39) missense probably damaging 1.00
R9176:Trpv1 UTSW 11 73,130,481 (GRCm39) missense probably benign 0.37
R9183:Trpv1 UTSW 11 73,135,039 (GRCm39) missense possibly damaging 0.87
R9190:Trpv1 UTSW 11 73,145,148 (GRCm39) critical splice donor site probably null
R9222:Trpv1 UTSW 11 73,141,681 (GRCm39) missense possibly damaging 0.87
R9241:Trpv1 UTSW 11 73,151,182 (GRCm39) missense probably benign 0.01
R9508:Trpv1 UTSW 11 73,145,090 (GRCm39) missense
R9727:Trpv1 UTSW 11 73,130,347 (GRCm39) missense probably damaging 1.00
X0067:Trpv1 UTSW 11 73,135,027 (GRCm39) critical splice acceptor site probably null
Z1176:Trpv1 UTSW 11 73,131,333 (GRCm39) missense probably damaging 1.00
Z1176:Trpv1 UTSW 11 73,131,014 (GRCm39) missense probably damaging 1.00
Z1177:Trpv1 UTSW 11 73,145,599 (GRCm39) missense probably damaging 1.00
Z1186:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1186:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1187:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1187:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1188:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1188:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1189:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1189:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1190:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1190:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1191:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1191:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Z1192:Trpv1 UTSW 11 73,145,117 (GRCm39) missense probably benign 0.12
Z1192:Trpv1 UTSW 11 73,131,427 (GRCm39) missense possibly damaging 0.90
Posted On 2013-10-07