Incidental Mutation 'R7319:Trpv1'
ID 568075
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 045415-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R7319 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73125118-73152068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73141620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 548 (M548V)
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
AA Change: M488V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: M488V

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
AA Change: M548V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: M548V

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: M180V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: M180V

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
AA Change: M240V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: M240V

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (79/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,393,635 (GRCm39) I287N probably benign Het
Aco2 G T 15: 81,787,820 (GRCm39) E223D probably damaging Het
Acsf3 T A 8: 123,539,770 (GRCm39) I466N probably damaging Het
Albfm1 G A 5: 90,719,625 (GRCm39) probably null Het
Aox3 T A 1: 58,191,761 (GRCm39) F438I probably benign Het
Arhgap33 T C 7: 30,225,794 (GRCm39) T591A probably benign Het
Ash1l C T 3: 88,888,694 (GRCm39) A191V probably benign Het
Btg2 T C 1: 134,006,779 (GRCm39) K5E probably benign Het
C1galt1 T A 6: 7,871,150 (GRCm39) Y329N probably damaging Het
Cacna1h A G 17: 25,608,435 (GRCm39) I824T possibly damaging Het
Carmil3 A G 14: 55,731,817 (GRCm39) I182V probably benign Het
Ccdc150 T A 1: 54,302,496 (GRCm39) probably null Het
Chek1 T A 9: 36,633,939 (GRCm39) R129W probably damaging Het
Chrna6 A G 8: 27,896,815 (GRCm39) M354T possibly damaging Het
Cpq A G 15: 33,250,185 (GRCm39) T181A probably benign Het
Csmd2 A T 4: 128,287,472 (GRCm39) Y1069F Het
Defb28 T A 2: 152,361,974 (GRCm39) C45S possibly damaging Het
Dnah1 A G 14: 31,018,551 (GRCm39) Y1360H probably benign Het
Dnah7c T C 1: 46,823,608 (GRCm39) V3749A possibly damaging Het
Dnah7c T A 1: 46,819,935 (GRCm39) D3728E probably benign Het
Dym G A 18: 75,196,245 (GRCm39) probably null Het
Dync2i2 G A 2: 29,928,341 (GRCm39) P95L probably benign Het
Dzip3 A G 16: 48,747,903 (GRCm39) probably null Het
Eef1akmt4 A G 16: 20,436,666 (GRCm39) K163E probably benign Het
Fbrs A G 7: 127,081,985 (GRCm39) T242A possibly damaging Het
Fgfr3 G A 5: 33,885,146 (GRCm39) V87M possibly damaging Het
Fst A T 13: 114,595,068 (GRCm39) C19S probably benign Het
Gm7276 G A 18: 77,273,216 (GRCm39) R173W unknown Het
Gm9195 G A 14: 72,697,929 (GRCm39) H1284Y probably benign Het
Herc6 C A 6: 57,581,074 (GRCm39) T258K probably damaging Het
Hip1r A G 5: 124,137,174 (GRCm39) Y678C probably damaging Het
Ifne A T 4: 88,798,243 (GRCm39) N58K probably damaging Het
Ighv1-26 A T 12: 114,752,163 (GRCm39) H60Q possibly damaging Het
Ints1 A G 5: 139,746,520 (GRCm39) F1276L probably damaging Het
Itprid2 A T 2: 79,466,416 (GRCm39) D82V probably damaging Het
Kcnc4 T A 3: 107,366,100 (GRCm39) E36V probably benign Het
Kcnq2 C T 2: 180,750,895 (GRCm39) G315S probably damaging Het
Kdm4c G A 4: 74,255,200 (GRCm39) V585M probably damaging Het
Klhl26 C T 8: 70,905,592 (GRCm39) R106H probably damaging Het
Kmo T C 1: 175,481,221 (GRCm39) F313S probably damaging Het
Lmtk3 T A 7: 45,443,740 (GRCm39) S808T unknown Het
Lrch3 A G 16: 32,815,363 (GRCm39) T585A probably benign Het
Lrch4 T A 5: 137,637,977 (GRCm39) H86Q Het
Map3k20 A G 2: 72,195,062 (GRCm39) D113G probably damaging Het
Mbd3l1 T C 9: 18,396,417 (GRCm39) S181P probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Med27 A G 2: 29,303,490 (GRCm39) R147G possibly damaging Het
Mrps5 T A 2: 127,437,762 (GRCm39) S196R possibly damaging Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Myo16 A T 8: 10,526,185 (GRCm39) probably null Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Pcdha11 C T 18: 37,146,245 (GRCm39) P779S probably benign Het
Phykpl A G 11: 51,489,530 (GRCm39) T379A probably benign Het
Plekha8 A C 6: 54,601,206 (GRCm39) M270L probably benign Het
Plekhg5 A G 4: 152,192,885 (GRCm39) H593R probably benign Het
Polr2a T C 11: 69,637,196 (GRCm39) N293S possibly damaging Het
Pramel32 G A 4: 88,548,184 (GRCm39) P74S probably benign Het
Prex2 T A 1: 11,232,532 (GRCm39) N866K probably benign Het
Psme4 A T 11: 30,757,790 (GRCm39) I308L probably benign Het
Ptprb T C 10: 116,177,309 (GRCm39) V1003A probably benign Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Rnaset2b A T 17: 7,259,166 (GRCm39) D144V probably benign Het
Senp6 T G 9: 80,033,481 (GRCm39) D662E probably damaging Het
Serpinb3c T C 1: 107,200,817 (GRCm39) N200S possibly damaging Het
Serpinb9g C G 13: 33,672,543 (GRCm39) Y113* probably null Het
Sgf29 T C 7: 126,270,821 (GRCm39) I134T probably benign Het
Sh3bp4 T G 1: 89,080,824 (GRCm39) probably null Het
Stab1 G A 14: 30,862,783 (GRCm39) L2243F probably damaging Het
Sympk T C 7: 18,769,770 (GRCm39) V149A probably benign Het
Syt3 C T 7: 44,041,953 (GRCm39) Q271* probably null Het
Tas2r109 A G 6: 132,957,663 (GRCm39) I89T probably benign Het
Tgif1 A G 17: 71,151,847 (GRCm39) S255P probably damaging Het
Tm9sf1 G A 14: 55,875,432 (GRCm39) probably benign Het
Tnf A G 17: 35,419,347 (GRCm39) F161S possibly damaging Het
Topaz1 T A 9: 122,579,428 (GRCm39) S779R possibly damaging Het
Topors A G 4: 40,260,540 (GRCm39) S915P unknown Het
Tpm4 C T 8: 72,900,321 (GRCm39) L161F probably damaging Het
Trim38 C T 13: 23,975,384 (GRCm39) T441I probably damaging Het
Vmn2r68 T A 7: 84,883,042 (GRCm39) T237S probably benign Het
Zc3hav1 A G 6: 38,309,209 (GRCm39) S538P probably benign Het
Zfp541 C T 7: 15,813,294 (GRCm39) T649I probably benign 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
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'- TCAATTCTTGCATCCCCAGAG -3'
(R):5'- GAAAACCTCCATGTCCAGGTC -3'

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