Incidental Mutation 'R7323:Trpv1'
ID 568299
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R7323 (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 73151163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 784 (S784P)
Ref Sequence ENSEMBL: ENSMUSP00000099585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470]
AlphaFold Q704Y3
Predicted Effect possibly damaging
Transcript: ENSMUST00000006106
AA Change: S724P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: S724P

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 possibly damaging
Transcript: ENSMUST00000102526
AA Change: S784P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: S784P

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 possibly damaging
Transcript: ENSMUST00000108470
AA Change: S416P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: S416P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik C A 5: 100,126,945 (GRCm39) A9E unknown Het
6030452D12Rik A T 8: 107,227,411 (GRCm39) probably null Het
Abcb11 C A 2: 69,117,979 (GRCm39) Q466H probably damaging Het
Adam20 A G 8: 41,248,421 (GRCm39) D177G probably benign Het
Ampd1 A T 3: 102,992,696 (GRCm39) Q150L probably benign Het
Angpt2 A C 8: 18,755,840 (GRCm39) M209R probably benign Het
Aoc2 G A 11: 101,219,371 (GRCm39) R598Q probably damaging Het
Arap1 A G 7: 101,049,418 (GRCm39) D960G probably damaging Het
Bhlhe40 G C 6: 108,642,242 (GRCm39) L395F probably benign Het
Cacna1i T C 15: 80,275,854 (GRCm39) C1882R possibly damaging Het
Ccr6 A G 17: 8,475,611 (GRCm39) N272S possibly damaging Het
Ces1f A T 8: 93,998,472 (GRCm39) W175R probably damaging Het
Ces3a A C 8: 105,782,239 (GRCm39) H364P possibly damaging Het
Cfap54 T C 10: 92,637,000 (GRCm39) M3130V probably benign Het
Clca3b G A 3: 144,531,681 (GRCm39) P708S possibly damaging Het
Cps1 A T 1: 67,197,028 (GRCm39) T360S probably benign Het
Cramp1 A T 17: 25,201,379 (GRCm39) M701K possibly damaging Het
Dnah1 A G 14: 31,020,664 (GRCm39) I1235T probably damaging Het
Efcab3 T C 11: 104,920,837 (GRCm39) L4676P probably benign Het
Ergic1 A G 17: 26,860,644 (GRCm39) E244G probably damaging Het
Fignl2 C A 15: 100,951,382 (GRCm39) R300L unknown Het
Fry T C 5: 150,419,814 (GRCm39) M628T Het
Fscn3 A G 6: 28,431,544 (GRCm39) T292A possibly damaging Het
Fsip2 A T 2: 82,819,860 (GRCm39) I5198L probably benign Het
Gm4181 T A 14: 51,869,990 (GRCm39) R104W probably damaging Het
Gnl1 G A 17: 36,294,305 (GRCm39) R308H probably benign Het
Gtf2h4 G T 17: 35,980,857 (GRCm39) L271I probably damaging Het
Helq GTTT GTT 5: 100,931,051 (GRCm39) probably null Het
Hhatl A T 9: 121,618,652 (GRCm39) W117R probably benign Het
Hlx A G 1: 184,462,993 (GRCm39) F220L probably benign Het
Il31ra T C 13: 112,688,497 (GRCm39) I27V probably damaging Het
Itga8 T G 2: 12,266,940 (GRCm39) D165A probably damaging Het
Krt33a A C 11: 99,902,801 (GRCm39) V341G probably benign Het
Lrrc3c A G 11: 98,490,266 (GRCm39) M208V possibly damaging Het
Mapk8ip3 A T 17: 25,120,135 (GRCm39) S947T probably benign Het
Muc5b A G 7: 141,412,444 (GRCm39) I1797V unknown Het
Myh2 A T 11: 67,088,191 (GRCm39) T1936S probably benign Het
Nr1h2 T C 7: 44,199,746 (GRCm39) Y391C possibly damaging Het
Or1l8 T A 2: 36,817,986 (GRCm39) I47F probably damaging Het
Or4c114 A T 2: 88,904,811 (GRCm39) I208K probably damaging Het
Or4e2 A G 14: 52,688,670 (GRCm39) I267V probably benign Het
Or5d40 A G 2: 88,015,952 (GRCm39) T244A possibly damaging Het
Phf3 A G 1: 30,852,211 (GRCm39) M1064T probably benign Het
Pkd1 A G 17: 24,794,025 (GRCm39) E1904G probably benign Het
Polrmt A G 10: 79,576,483 (GRCm39) V491A probably benign Het
Ppm1j C A 3: 104,691,429 (GRCm39) R306S probably damaging Het
Prkd2 T C 7: 16,581,547 (GRCm39) F134S probably benign Het
Prpf8 C A 11: 75,382,610 (GRCm39) Q439K probably benign Het
Prss50 A T 9: 110,692,800 (GRCm39) I307F possibly damaging Het
Rgs20 A G 1: 4,982,535 (GRCm39) probably null Het
Rnf144b A G 13: 47,393,258 (GRCm39) E199G probably damaging Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc22a26 A T 19: 7,768,259 (GRCm39) V233E probably damaging Het
Slc27a2 T G 2: 126,395,124 (GRCm39) L17R probably benign Het
Slc6a17 A G 3: 107,398,794 (GRCm39) V269A probably benign Het
Srp54c T C 12: 55,304,237 (GRCm39) V395A probably benign Het
Sspo A T 6: 48,438,581 (GRCm39) S1550C possibly damaging Het
Tet1 A G 10: 62,715,818 (GRCm39) probably benign Het
Themis A T 10: 28,609,497 (GRCm39) H88L probably benign Het
Tmem63b G A 17: 45,971,773 (GRCm39) T814M possibly damaging Het
Tnc G A 4: 63,889,469 (GRCm39) T1679I probably damaging Het
Tnfrsf11a A G 1: 105,772,456 (GRCm39) D581G probably damaging Het
Trim30d A C 7: 104,132,555 (GRCm39) V244G probably benign Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Ubap2l A C 3: 89,922,713 (GRCm39) V775G unknown Het
Vmn2r69 A C 7: 85,060,972 (GRCm39) I204R possibly damaging Het
Vmn2r72 T A 7: 85,399,771 (GRCm39) D426V probably benign Het
Vmn2r93 G A 17: 18,533,497 (GRCm39) W467* probably null Het
Wbp2nl T C 15: 82,198,542 (GRCm39) *360Q probably null Het
Xylt1 G A 7: 117,191,274 (GRCm39) probably null Het
Zc3h6 T G 2: 128,835,331 (GRCm39) N123K unknown Het
Zfp853 T C 5: 143,275,110 (GRCm39) Q185R unknown 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
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
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'- TCCCTGAGCTTTCGGTGTAAG -3'
(R):5'- TCAGCTGCTTCATGGTGTCC -3'

Sequencing Primer
(F):5'- GTGACCCATGGATCTCTGC -3'
(R):5'- GCTTCATGGTGTCCCTCATTTC -3'
Posted On 2019-06-26