Incidental Mutation 'R4294:Trpv1'
| ID |
323226 |
| 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 |
041083-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R4294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73125118-73152068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73131290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 276
(A276V)
|
| 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: A276V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: A276V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A276V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: A276V
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1463 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
T |
19: 21,576,113 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,619,543 (GRCm39) |
I960M |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bsnd |
C |
T |
4: 106,342,355 (GRCm39) |
R271H |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Clip2 |
A |
C |
5: 134,521,167 (GRCm39) |
V957G |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,051,907 (GRCm39) |
V608A |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,807,242 (GRCm39) |
R1362W |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,891 (GRCm39) |
H552L |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,602 (GRCm39) |
T359A |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Magel2 |
T |
G |
7: 62,028,515 (GRCm39) |
V473G |
possibly damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,637 (GRCm39) |
T108A |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,899,916 (GRCm39) |
L502Q |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,346,939 (GRCm39) |
D171G |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,607 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,433,270 (GRCm39) |
Y182H |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Thrb |
C |
T |
14: 18,011,145 (GRCm38) |
Q174* |
probably null |
Het |
| Ticam1 |
A |
G |
17: 56,578,339 (GRCm39) |
I252T |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,624 (GRCm39) |
I241F |
probably benign |
Het |
|
| Other mutations in Trpv1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTTCAAGAAAACCAAAGGGAG -3'
(R):5'- AGCCCCTTCTTGTTGGTGAG -3'
Sequencing Primer
(F):5'- AAAGGGAGGCCTGGCTTCTAC -3'
(R):5'- AGTTCTTCTAGCTTCAGTGTGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation