Incidental Mutation 'R5114:Trpv1'
ID 394103
Institutional Source Beutler Lab
Gene Symbol Trpv1
Ensembl Gene ENSMUSG00000005952
Gene Name transient receptor potential cation channel, subfamily V, member 1
Synonyms VR-1, capsaicin receptor, Vr1, OTRPC1
MMRRC Submission 042702-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R5114 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73125118-73152068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73132574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 396 (V396E)
Ref Sequence ENSEMBL: ENSMUSP00000099585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470] [ENSMUST00000138853]
AlphaFold Q704Y3
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000102526
AA Change: V396E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: V396E

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 damaging
Transcript: ENSMUST00000138853
AA Change: V88E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: V88E

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
Meta Mutation Damage Score 0.4579 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (93/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T A 9: 120,406,693 (GRCm39) probably benign Het
Ada G A 2: 163,572,406 (GRCm39) R225C probably benign Het
Adamts9 T C 6: 92,867,254 (GRCm39) K625R probably benign Het
Ano1 T C 7: 144,210,820 (GRCm39) I182V possibly damaging Het
Aoc1l2 A T 6: 48,908,292 (GRCm39) M431L probably benign Het
Aox4 T C 1: 58,285,445 (GRCm39) V643A possibly damaging Het
Arcn1 T C 9: 44,671,441 (GRCm39) I29V probably benign Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Asb10 A T 5: 24,745,740 (GRCm39) L62Q probably damaging Het
Atp23 T A 10: 126,723,403 (GRCm39) H233L possibly damaging Het
Bglap2 C T 3: 88,289,432 (GRCm39) probably benign Het
Carnmt1 T C 19: 18,655,098 (GRCm39) S84P probably damaging Het
Ccdc152 A G 15: 3,312,319 (GRCm39) I180T probably damaging Het
Cdr2l T C 11: 115,284,186 (GRCm39) F174S probably damaging Het
Celsr2 C T 3: 108,301,312 (GRCm39) V2695I probably benign Het
Chd1 C A 17: 15,948,460 (GRCm39) S127R probably benign Het
Chmp4c T A 3: 10,450,646 (GRCm39) F75L probably benign Het
Col13a1 A C 10: 61,725,880 (GRCm39) V260G possibly damaging Het
Col5a1 A G 2: 27,915,664 (GRCm39) N183D probably damaging Het
Cpn1 C T 19: 43,974,634 (GRCm39) V32M probably damaging Het
Cxcl1 A G 5: 91,039,373 (GRCm39) M39V probably benign Het
Dpep2 T A 8: 106,712,825 (GRCm39) D455V probably damaging Het
Dpp7 G A 2: 25,242,749 (GRCm39) T441I possibly damaging Het
Dst C A 1: 34,241,640 (GRCm39) H4001N probably damaging Het
Epg5 G A 18: 78,038,828 (GRCm39) A1519T probably benign Het
Esrp2 C T 8: 106,858,820 (GRCm39) V606I probably benign Het
Fbxo40 T C 16: 36,789,236 (GRCm39) K625E probably damaging Het
Gbp2b A T 3: 142,303,946 (GRCm39) I14F probably damaging Het
Gpr37l1 G T 1: 135,094,676 (GRCm39) F189L probably damaging Het
Heatr5a G A 12: 52,003,020 (GRCm39) Q161* probably null Het
Hspa4l T C 3: 40,700,197 (GRCm39) Y30H possibly damaging Het
Hspg2 G A 4: 137,239,237 (GRCm39) C388Y probably damaging Het
Kcna1 A G 6: 126,619,330 (GRCm39) I330T probably damaging Het
Klhl3 T A 13: 58,166,781 (GRCm39) Y350F probably benign Het
Kntc1 T C 5: 123,919,118 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,520 (GRCm39) C109* probably null Het
Lrch4 T C 5: 137,636,179 (GRCm39) S377P probably benign Het
Lrrc8c C A 5: 105,755,349 (GRCm39) H375N probably damaging Het
Lsg1 T C 16: 30,380,538 (GRCm39) E633G probably damaging Het
Mcoln1 T C 8: 3,560,697 (GRCm39) probably benign Het
Med12l C A 3: 59,167,109 (GRCm39) T1523K possibly damaging Het
Mrps27 A T 13: 99,547,973 (GRCm39) probably benign Het
Mzb1 T A 18: 35,780,717 (GRCm39) Y158F probably benign Het
Nat8l T A 5: 34,155,823 (GRCm39) C160S probably damaging Het
Ncf4 T C 15: 78,146,593 (GRCm39) probably benign Het
Or1b1 A T 2: 36,994,814 (GRCm39) Y283N probably damaging Het
Or1o3 T C 17: 37,573,730 (GRCm39) Y275C probably damaging Het
Pak2 T A 16: 31,861,936 (GRCm39) probably benign Het
Pcdhga12 T C 18: 37,901,160 (GRCm39) I664T probably benign Het
Pcnx2 A C 8: 126,564,749 (GRCm39) L1048R possibly damaging Het
Pcsk5 T C 19: 17,652,949 (GRCm39) M246V probably damaging Het
Pkd2l2 T A 18: 34,566,355 (GRCm39) V522D probably benign Het
Plekhh1 A T 12: 79,115,880 (GRCm39) M808L probably benign Het
Plpp2 C A 10: 79,362,973 (GRCm39) R157L probably benign Het
Plrg1 T A 3: 82,978,558 (GRCm39) H441Q probably benign Het
Pnpla6 T C 8: 3,572,613 (GRCm39) V300A probably damaging Het
Ptprb A T 10: 116,184,088 (GRCm39) K1633N possibly damaging Het
Ralgapa1 A G 12: 55,659,508 (GRCm39) V2004A possibly damaging Het
Rasd1 G T 11: 59,854,933 (GRCm39) S182R possibly damaging Het
Rc3h2 A T 2: 37,288,373 (GRCm39) probably null Het
Rrp1b T A 17: 32,255,445 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,474,272 (GRCm39) I425T probably benign Het
Shisal1 T C 15: 84,301,427 (GRCm39) D72G probably damaging Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Slc12a2 A G 18: 58,032,344 (GRCm39) Y348C probably damaging Het
Slc14a2 C A 18: 78,238,963 (GRCm39) V219L possibly damaging Het
Smc1b G T 15: 84,949,185 (GRCm39) P1242Q probably damaging Het
Smim33 A G 18: 35,861,894 (GRCm39) Y126C probably damaging Het
Snx27 T A 3: 94,431,551 (GRCm39) D281V probably damaging Het
Spem2 C T 11: 69,707,973 (GRCm39) V331I probably benign Het
Sptb C A 12: 76,656,052 (GRCm39) K1343N probably damaging Het
Sult2a8 T C 7: 14,147,584 (GRCm39) I236V probably benign Het
Syk A G 13: 52,765,071 (GRCm39) E66G probably damaging Het
Synm T A 7: 67,385,406 (GRCm39) E310V probably damaging Het
Tas2r118 G A 6: 23,969,209 (GRCm39) A284V probably benign Het
Thoc2l T A 5: 104,667,742 (GRCm39) F755I probably damaging Het
Tlr11 A G 14: 50,600,578 (GRCm39) N855D possibly damaging Het
Tmem230 G T 2: 132,087,871 (GRCm39) probably benign Het
Trappc8 G A 18: 20,977,237 (GRCm39) T844I probably benign Het
Trmt44 T C 5: 35,722,812 (GRCm39) S419G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp2 A G 7: 139,587,354 (GRCm39) I337T possibly damaging Het
Ubr4 T C 4: 139,137,934 (GRCm39) I1097T probably damaging Het
Vmn2r61 T C 7: 41,949,953 (GRCm39) F791S possibly damaging Het
Zdhhc2 T A 8: 40,898,825 (GRCm39) M45K probably benign Het
Zfp383 T A 7: 29,614,166 (GRCm39) D140E probably damaging Het
Zfp712 C A 13: 67,189,425 (GRCm39) K367N probably damaging Het
Zfp763 C T 17: 33,237,949 (GRCm39) A399T probably damaging Het
Other mutations in Trpv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Trpv1 APN 11 73,151,188 (GRCm39) missense probably damaging 0.99
IGL01348:Trpv1 APN 11 73,129,078 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGATGGGGATCTCCTACCTG -3'
(R):5'- AGAGCTGTCCTTATCTCTGCAC -3'

Sequencing Primer
(F):5'- TGCCACAGGTCTTGGCCTAC -3'
(R):5'- AGATGCTCTCGTGTTTATGAGC -3'
Posted On 2016-06-15