Incidental Mutation 'PIT4472001:Trpv4'
| ID |
555857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpv4
|
| Ensembl Gene |
ENSMUSG00000014158 |
| Gene Name |
transient receptor potential cation channel, subfamily V, member 4 |
| Synonyms |
VROAC, Trp12, VR-OAC, 0610033B08Rik, OTRPC4, VRL-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
PIT4472001 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114760213-114796482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114764984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 677
(T677S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071968]
[ENSMUST00000112217]
[ENSMUST00000112219]
[ENSMUST00000112222]
[ENSMUST00000112225]
|
| AlphaFold |
Q9EPK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071968
AA Change: T677S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: T677S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Blast:ANK
|
190 |
225 |
2e-11 |
BLAST |
|
ANK
|
237 |
266 |
2.54e-2 |
SMART |
|
ANK
|
284 |
313 |
5.58e1 |
SMART |
|
Blast:ANK
|
320 |
356 |
3e-12 |
BLAST |
|
ANK
|
369 |
398 |
3.49e0 |
SMART |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
Blast:ANK
|
442 |
467 |
1e-6 |
BLAST |
|
Pfam:Ion_trans
|
468 |
730 |
9.9e-13 |
PFAM |
|
Blast:PHB
|
753 |
804 |
5e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112217
AA Change: T617S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: T617S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Blast:ANK
|
190 |
225 |
1e-11 |
BLAST |
|
ANK
|
237 |
266 |
2.54e-2 |
SMART |
|
ANK
|
284 |
313 |
5.58e1 |
SMART |
|
Blast:ANK
|
320 |
356 |
2e-12 |
BLAST |
|
ANK
|
369 |
397 |
1.02e3 |
SMART |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
455 |
658 |
3.3e-8 |
PFAM |
|
Blast:PHB
|
693 |
744 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112219
AA Change: T570S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: T570S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Blast:ANK
|
190 |
225 |
2e-11 |
BLAST |
|
ANK
|
237 |
266 |
4.86e1 |
SMART |
|
Blast:ANK
|
273 |
309 |
2e-12 |
BLAST |
|
ANK
|
322 |
350 |
1.02e3 |
SMART |
|
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
408 |
611 |
3e-8 |
PFAM |
|
Blast:PHB
|
646 |
697 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112222
AA Change: T630S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: T630S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Blast:ANK
|
190 |
225 |
2e-11 |
BLAST |
|
ANK
|
237 |
266 |
4.86e1 |
SMART |
|
Blast:ANK
|
273 |
309 |
2e-12 |
BLAST |
|
ANK
|
322 |
351 |
3.49e0 |
SMART |
|
low complexity region
|
368 |
378 |
N/A |
INTRINSIC |
|
Blast:ANK
|
395 |
420 |
1e-6 |
BLAST |
|
Pfam:Ion_trans
|
468 |
671 |
3.4e-8 |
PFAM |
|
Blast:PHB
|
706 |
757 |
5e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112225
AA Change: T677S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: T677S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Blast:ANK
|
190 |
225 |
2e-11 |
BLAST |
|
ANK
|
237 |
266 |
2.54e-2 |
SMART |
|
ANK
|
284 |
313 |
5.58e1 |
SMART |
|
Blast:ANK
|
320 |
356 |
3e-12 |
BLAST |
|
ANK
|
369 |
398 |
3.49e0 |
SMART |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
Blast:ANK
|
442 |
467 |
1e-6 |
BLAST |
|
Pfam:Ion_trans
|
515 |
718 |
3.4e-8 |
PFAM |
|
Blast:PHB
|
753 |
804 |
5e-13 |
BLAST |
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
|
| Other mutations in Trpv4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Trpv4
|
APN |
5 |
114,766,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Trpv4
|
APN |
5 |
114,782,847 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01955:Trpv4
|
APN |
5 |
114,760,743 (GRCm39) |
nonsense |
probably null |
|
|
IGL02115:Trpv4
|
APN |
5 |
114,763,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Trpv4
|
APN |
5 |
114,774,418 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02870:Trpv4
|
APN |
5 |
114,763,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Trpv4
|
UTSW |
5 |
114,774,518 (GRCm39) |
missense |
probably benign |
|
|
R0045:Trpv4
|
UTSW |
5 |
114,774,518 (GRCm39) |
missense |
probably benign |
|
|
R0217:Trpv4
|
UTSW |
5 |
114,772,722 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0346:Trpv4
|
UTSW |
5 |
114,768,590 (GRCm39) |
splice site |
probably benign |
|
|
R0358:Trpv4
|
UTSW |
5 |
114,768,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Trpv4
|
UTSW |
5 |
114,771,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Trpv4
|
UTSW |
5 |
114,761,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1881:Trpv4
|
UTSW |
5 |
114,761,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Trpv4
|
UTSW |
5 |
114,772,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Trpv4
|
UTSW |
5 |
114,773,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Trpv4
|
UTSW |
5 |
114,782,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Trpv4
|
UTSW |
5 |
114,773,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3699:Trpv4
|
UTSW |
5 |
114,772,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Trpv4
|
UTSW |
5 |
114,760,814 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4732:Trpv4
|
UTSW |
5 |
114,760,814 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4733:Trpv4
|
UTSW |
5 |
114,760,814 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4822:Trpv4
|
UTSW |
5 |
114,768,083 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4985:Trpv4
|
UTSW |
5 |
114,760,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4987:Trpv4
|
UTSW |
5 |
114,760,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5026:Trpv4
|
UTSW |
5 |
114,760,715 (GRCm39) |
makesense |
probably null |
|
|
R5105:Trpv4
|
UTSW |
5 |
114,764,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Trpv4
|
UTSW |
5 |
114,760,856 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5330:Trpv4
|
UTSW |
5 |
114,773,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Trpv4
|
UTSW |
5 |
114,773,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Trpv4
|
UTSW |
5 |
114,761,675 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5423:Trpv4
|
UTSW |
5 |
114,774,506 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5667:Trpv4
|
UTSW |
5 |
114,772,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Trpv4
|
UTSW |
5 |
114,760,708 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6239:Trpv4
|
UTSW |
5 |
114,782,887 (GRCm39) |
missense |
probably benign |
|
|
R6762:Trpv4
|
UTSW |
5 |
114,763,171 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6952:Trpv4
|
UTSW |
5 |
114,771,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Trpv4
|
UTSW |
5 |
114,771,201 (GRCm39) |
missense |
probably benign |
|
|
R7343:Trpv4
|
UTSW |
5 |
114,774,520 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7951:Trpv4
|
UTSW |
5 |
114,760,871 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8551:Trpv4
|
UTSW |
5 |
114,768,900 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8803:Trpv4
|
UTSW |
5 |
114,772,816 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8871:Trpv4
|
UTSW |
5 |
114,768,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9228:Trpv4
|
UTSW |
5 |
114,772,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9250:Trpv4
|
UTSW |
5 |
114,764,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Trpv4
|
UTSW |
5 |
114,768,068 (GRCm39) |
missense |
probably benign |
|
|
R9304:Trpv4
|
UTSW |
5 |
114,782,702 (GRCm39) |
nonsense |
probably null |
|
|
R9383:Trpv4
|
UTSW |
5 |
114,796,474 (GRCm39) |
start gained |
probably benign |
|
|
R9654:Trpv4
|
UTSW |
5 |
114,764,887 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9697:Trpv4
|
UTSW |
5 |
114,771,285 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9712:Trpv4
|
UTSW |
5 |
114,771,211 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Trpv4
|
UTSW |
5 |
114,772,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCAGATGTGCTTGCTC -3'
(R):5'- TCCTCAGAGAGTTTGGGGAG -3'
Sequencing Primer
(F):5'- AGATGTGCTTGCTCTCCTTGGAC -3'
(R):5'- CCATCTAGTGGGGTAGCACCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation