Incidental Mutation 'R7750:Trpv3'
| ID |
597167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpv3
|
| Ensembl Gene |
ENSMUSG00000043029 |
| Gene Name |
transient receptor potential cation channel, subfamily V, member 3 |
| Synonyms |
VRL3, 1110036I10Rik, Nh |
| MMRRC Submission |
045806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73158315-73191194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73176847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 409
(Y409H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049676]
|
| AlphaFold |
Q8K424 |
| PDB Structure |
Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049676
AA Change: Y409H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: Y409H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
153 |
N/A |
INTRINSIC |
|
ANK
|
167 |
201 |
1.21e2 |
SMART |
|
ANK
|
214 |
243 |
3.54e-1 |
SMART |
|
ANK
|
261 |
291 |
1.36e-2 |
SMART |
|
ANK
|
340 |
370 |
6.71e-2 |
SMART |
|
low complexity region
|
417 |
431 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
437 |
689 |
3.9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.4986 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,199 (GRCm39) |
D816V |
possibly damaging |
Het |
| Abca16 |
A |
T |
7: 120,113,928 (GRCm39) |
N933I |
probably benign |
Het |
| Acly |
A |
T |
11: 100,368,839 (GRCm39) |
|
probably null |
Het |
| Acox1 |
C |
T |
11: 116,074,406 (GRCm39) |
G105D |
possibly damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,628 (GRCm39) |
E939G |
possibly damaging |
Het |
| Bard1 |
T |
A |
1: 71,106,101 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
T |
17: 32,432,521 (GRCm39) |
N579K |
unknown |
Het |
| C1qc |
T |
C |
4: 136,617,592 (GRCm39) |
Y168C |
probably damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,858 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,190 (GRCm39) |
Y388* |
probably null |
Het |
| Clasrp |
A |
T |
7: 19,318,516 (GRCm39) |
*628R |
probably null |
Het |
| Cox4i1 |
A |
G |
8: 121,400,049 (GRCm39) |
I111V |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,076,913 (GRCm39) |
|
probably null |
Het |
| Frem2 |
C |
A |
3: 53,431,103 (GRCm39) |
L2743F |
possibly damaging |
Het |
| Frmd4a |
A |
T |
2: 4,606,160 (GRCm39) |
H628L |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,690,184 (GRCm39) |
D809G |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,274,652 (GRCm39) |
M1491K |
possibly damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,810 (GRCm39) |
H183Y |
possibly damaging |
Het |
| H1f7 |
A |
G |
15: 98,154,565 (GRCm39) |
S195P |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,866,920 (GRCm39) |
Y2858C |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,412 (GRCm39) |
F108L |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,251 (GRCm39) |
V443A |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myh9 |
C |
T |
15: 77,667,610 (GRCm39) |
V608I |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,464,849 (GRCm39) |
D475G |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,170,728 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,059,665 (GRCm39) |
I769F |
probably benign |
Het |
| Nol8 |
G |
T |
13: 49,815,742 (GRCm39) |
V617F |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,740 (GRCm39) |
C109* |
probably null |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pou3f3 |
T |
A |
1: 42,737,308 (GRCm39) |
F335I |
probably damaging |
Het |
| Ppp1r3e |
T |
C |
14: 55,114,084 (GRCm39) |
D196G |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,041,757 (GRCm39) |
T545A |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rprd1a |
T |
A |
18: 24,641,311 (GRCm39) |
K102* |
probably null |
Het |
| Sim1 |
A |
G |
10: 50,772,131 (GRCm39) |
T47A |
possibly damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,728,498 (GRCm39) |
A102T |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,207,098 (GRCm39) |
P361S |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,998 (GRCm39) |
F286S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,113,030 (GRCm39) |
S421P |
probably benign |
Het |
| Snap91 |
A |
C |
9: 86,680,762 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,761,625 (GRCm39) |
L293P |
probably damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,360 (GRCm39) |
I66K |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,311 (GRCm39) |
I85V |
probably benign |
Het |
| Thop1 |
G |
T |
10: 80,916,025 (GRCm39) |
A403S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,706,354 (GRCm39) |
M52K |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,118,609 (GRCm39) |
N111D |
probably damaging |
Het |
| Trip10 |
G |
A |
17: 57,568,667 (GRCm39) |
V419I |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,283,399 (GRCm39) |
T1143A |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,108 (GRCm39) |
S20T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,823 (GRCm39) |
F406L |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,040,884 (GRCm39) |
E1788G |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,780,430 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,726 (GRCm39) |
V367I |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,185 (GRCm39) |
K849I |
probably damaging |
Het |
| Zfp119b |
A |
T |
17: 56,245,682 (GRCm39) |
H501Q |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,016,958 (GRCm39) |
H893N |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,663,525 (GRCm39) |
E88G |
probably damaging |
Het |
|
| Other mutations in Trpv3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Trpv3
|
APN |
11 |
73,184,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01161:Trpv3
|
APN |
11 |
73,187,544 (GRCm39) |
splice site |
probably benign |
|
|
IGL02130:Trpv3
|
APN |
11 |
73,170,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02957:Trpv3
|
APN |
11 |
73,176,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Trpv3
|
APN |
11 |
73,172,491 (GRCm39) |
splice site |
probably benign |
|
|
R0103:Trpv3
|
UTSW |
11 |
73,184,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Trpv3
|
UTSW |
11 |
73,184,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Trpv3
|
UTSW |
11 |
73,188,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Trpv3
|
UTSW |
11 |
73,187,640 (GRCm39) |
splice site |
probably benign |
|
|
R0969:Trpv3
|
UTSW |
11 |
73,169,764 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Trpv3
|
UTSW |
11 |
73,186,209 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1974:Trpv3
|
UTSW |
11 |
73,174,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Trpv3
|
UTSW |
11 |
73,170,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3426:Trpv3
|
UTSW |
11 |
73,176,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3427:Trpv3
|
UTSW |
11 |
73,176,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Trpv3
|
UTSW |
11 |
73,176,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3618:Trpv3
|
UTSW |
11 |
73,186,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Trpv3
|
UTSW |
11 |
73,169,780 (GRCm39) |
missense |
probably benign |
|
|
R3916:Trpv3
|
UTSW |
11 |
73,174,560 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3917:Trpv3
|
UTSW |
11 |
73,174,560 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3961:Trpv3
|
UTSW |
11 |
73,178,246 (GRCm39) |
nonsense |
probably null |
|
|
R4242:Trpv3
|
UTSW |
11 |
73,168,649 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4277:Trpv3
|
UTSW |
11 |
73,187,264 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4506:Trpv3
|
UTSW |
11 |
73,186,150 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4629:Trpv3
|
UTSW |
11 |
73,172,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4656:Trpv3
|
UTSW |
11 |
73,186,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5059:Trpv3
|
UTSW |
11 |
73,186,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5121:Trpv3
|
UTSW |
11 |
73,168,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6113:Trpv3
|
UTSW |
11 |
73,176,844 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6130:Trpv3
|
UTSW |
11 |
73,187,309 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6342:Trpv3
|
UTSW |
11 |
73,174,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Trpv3
|
UTSW |
11 |
73,182,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Trpv3
|
UTSW |
11 |
73,168,818 (GRCm39) |
missense |
probably benign |
|
|
R7434:Trpv3
|
UTSW |
11 |
73,179,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7440:Trpv3
|
UTSW |
11 |
73,168,800 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7741:Trpv3
|
UTSW |
11 |
73,179,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7785:Trpv3
|
UTSW |
11 |
73,168,558 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8309:Trpv3
|
UTSW |
11 |
73,170,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Trpv3
|
UTSW |
11 |
73,182,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Trpv3
|
UTSW |
11 |
73,180,127 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8443:Trpv3
|
UTSW |
11 |
73,186,209 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8454:Trpv3
|
UTSW |
11 |
73,182,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Trpv3
|
UTSW |
11 |
73,179,035 (GRCm39) |
nonsense |
probably null |
|
|
R8556:Trpv3
|
UTSW |
11 |
73,178,291 (GRCm39) |
missense |
probably benign |
|
|
R8701:Trpv3
|
UTSW |
11 |
73,169,762 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9046:Trpv3
|
UTSW |
11 |
73,176,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Trpv3
|
UTSW |
11 |
73,178,225 (GRCm39) |
missense |
probably benign |
|
|
R9492:Trpv3
|
UTSW |
11 |
73,187,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9748:Trpv3
|
UTSW |
11 |
73,174,499 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1186:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trpv3
|
UTSW |
11 |
73,174,502 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trpv3
|
UTSW |
11 |
73,169,803 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trpv3
|
UTSW |
11 |
73,160,513 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATTCTGGGTTGACCTGCTTC -3'
(R):5'- AGCTAGCCTGTATCTGGACC -3'
Sequencing Primer
(F):5'- AGGCCTGTTGTCTCCAAGC -3'
(R):5'- GACCCTGCCCTCTATGCCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation