Incidental Mutation 'R6383:Trpv1'
ID 515455
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 044532-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R6383 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73125118-73152068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73136862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 482 (S482P)
Ref Sequence ENSEMBL: ENSMUSP00000099585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470] [ENSMUST00000138853]
AlphaFold Q704Y3
Predicted Effect probably damaging
Transcript: ENSMUST00000006106
AA Change: S422P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: S422P

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: S482P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: S482P

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
AA Change: S114P

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: S114P

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 possibly damaging
Transcript: ENSMUST00000138853
AA Change: S174P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: S174P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (73/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,286,343 (GRCm39) M2497K probably benign Het
Abtb2 C T 2: 103,397,721 (GRCm39) T217I probably damaging Het
Adam29 T A 8: 56,324,543 (GRCm39) N637I probably damaging Het
Adgb T A 10: 10,325,772 (GRCm39) E59V probably damaging Het
Adh7 C T 3: 137,933,778 (GRCm39) R312C probably benign Het
Adprh A G 16: 38,267,814 (GRCm39) I157T probably damaging Het
Ap2b1 T C 11: 83,237,651 (GRCm39) S572P probably damaging Het
Asic1 T C 15: 99,596,761 (GRCm39) L519P probably damaging Het
Atp2a2 G C 5: 122,639,712 (GRCm39) L13V probably benign Het
Bst2 A T 8: 71,989,932 (GRCm39) I47N possibly damaging Het
Cacng6 G A 7: 3,473,509 (GRCm39) probably null Het
Cenpe A G 3: 134,957,289 (GRCm39) E1849G probably damaging Het
Cep295 T A 9: 15,244,050 (GRCm39) T213S probably damaging Het
Chia1 A G 3: 106,039,127 (GRCm39) T406A probably benign Het
Chmp4c G T 3: 10,432,277 (GRCm39) K62N probably damaging Het
Cldn15 A G 5: 136,996,979 (GRCm39) T7A probably benign Het
Cmpk2 T A 12: 26,528,019 (GRCm39) M412K probably benign Het
Cnnm1 T C 19: 43,453,705 (GRCm39) probably null Het
Cubn A C 2: 13,432,646 (GRCm39) probably null Het
Dop1b T C 16: 93,579,136 (GRCm39) V1668A possibly damaging Het
Erg28 T A 12: 85,863,203 (GRCm39) Y77F probably damaging Het
F830045P16Rik C T 2: 129,378,358 (GRCm39) A9T probably benign Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Gpr179 A G 11: 97,227,973 (GRCm39) V1394A possibly damaging Het
Grn T A 11: 102,327,621 (GRCm39) probably benign Het
H2-Q6 G A 17: 35,647,359 (GRCm39) probably null Het
Igsf3 A G 3: 101,342,964 (GRCm39) T514A probably benign Het
Il1r1 A G 1: 40,352,495 (GRCm39) D558G possibly damaging Het
Irx4 T C 13: 73,415,832 (GRCm39) M207T possibly damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kdm2b G A 5: 123,072,841 (GRCm39) R340C probably damaging Het
Lipo3 T A 19: 33,533,831 (GRCm39) M334L probably benign Het
Lmbrd1 C T 1: 24,745,115 (GRCm39) L152F probably damaging Het
Ltbp1 G A 17: 75,666,452 (GRCm39) V1382I probably damaging Het
Map3k4 C T 17: 12,468,470 (GRCm39) D1008N possibly damaging Het
Mcf2l T C 8: 12,929,912 (GRCm39) probably benign Het
Mecom T G 3: 30,051,875 (GRCm39) D180A probably damaging Het
Meis1 T C 11: 18,891,741 (GRCm39) D269G probably benign Het
Myh7 A C 14: 55,226,351 (GRCm39) S430A probably benign Het
Myo1h A G 5: 114,474,325 (GRCm39) I439V probably damaging Het
Nat1 T C 8: 67,944,134 (GRCm39) V170A possibly damaging Het
Nlrp12 A G 7: 3,282,673 (GRCm39) L742P probably damaging Het
Nlrp4c A G 7: 6,069,052 (GRCm39) T318A probably benign Het
Or4d10 T A 19: 12,051,727 (GRCm39) I90F probably damaging Het
Or4k47 T A 2: 111,451,531 (GRCm39) N296I probably benign Het
Or51ai2 A G 7: 103,587,030 (GRCm39) I148V probably benign Het
Or8g33 G T 9: 39,337,530 (GRCm39) T279N probably damaging Het
Or8g35 A T 9: 39,381,926 (GRCm39) L32Q probably damaging Het
Otop3 A G 11: 115,235,898 (GRCm39) E529G probably damaging Het
Parp6 T C 9: 59,531,222 (GRCm39) Y35H probably damaging Het
Pcdhb4 A C 18: 37,441,074 (GRCm39) D128A probably damaging Het
Phldb2 C T 16: 45,569,113 (GRCm39) D1249N probably damaging Het
Pramel30 A T 4: 144,059,717 (GRCm39) *476L probably null Het
Ptpn12 T A 5: 21,192,466 (GRCm39) K765* probably null Het
Ptprb T A 10: 116,182,912 (GRCm39) Y1529* probably null Het
Ptprc A T 1: 138,006,189 (GRCm39) Y798N possibly damaging Het
Sdk2 G A 11: 113,723,091 (GRCm39) T1300I probably damaging Het
Slc28a2b T C 2: 122,355,288 (GRCm39) I555T probably benign Het
Sptbn2 G A 19: 4,782,524 (GRCm39) V487I possibly damaging Het
Sptbn5 A G 2: 119,876,750 (GRCm39) probably benign Het
Srpk1 A G 17: 28,809,036 (GRCm39) S648P probably damaging Het
Stard9 T C 2: 120,496,888 (GRCm39) probably null Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Top3a A T 11: 60,640,285 (GRCm39) I446N probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn2r15 A C 5: 109,441,092 (GRCm39) Y255* probably null Het
Vmn2r60 A G 7: 41,765,895 (GRCm39) M1V probably null Het
Vmn2r87 A G 10: 130,314,869 (GRCm39) V239A probably damaging Het
Vwce T A 19: 10,636,956 (GRCm39) C679* probably null Het
Zfp385b C T 2: 77,246,185 (GRCm39) A281T probably benign Het
Zfp398 T G 6: 47,843,529 (GRCm39) L395W probably damaging Het
Zfp442 C T 2: 150,293,321 (GRCm39) probably null Het
Zfp606 A G 7: 12,226,871 (GRCm39) S331G probably benign Het
Zfp882 A G 8: 72,668,484 (GRCm39) H437R 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
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
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'- GAGCCAAGTCTTAATGATGAGGC -3'
(R):5'- CAAGAACAGCCATGAGACTTAGTG -3'

Sequencing Primer
(F):5'- CAAGTCTTAATGATGAGGCTTGGTAC -3'
(R):5'- CCATGAGACTTAGTGGTAGAGATCC -3'
Posted On 2018-05-04