Incidental Mutation 'R2974:Trpv5'
| ID |
255315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpv5
|
| Ensembl Gene |
ENSMUSG00000036899 |
| Gene Name |
transient receptor potential cation channel, subfamily V, member 5 |
| Synonyms |
CaT2, ECaC1 |
| MMRRC Submission |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41630165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 642
(S642G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031901]
[ENSMUST00000193503]
|
| AlphaFold |
P69744 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031901
AA Change: S691G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: S691G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
38 |
68 |
1e-7 |
BLAST |
|
ANK
|
72 |
102 |
2.3e0 |
SMART |
|
ANK
|
110 |
139 |
4.56e-4 |
SMART |
|
ANK
|
156 |
185 |
1.85e-4 |
SMART |
|
Blast:ANK
|
189 |
217 |
3e-10 |
BLAST |
|
ANK
|
232 |
261 |
3.07e2 |
SMART |
|
Pfam:Ion_trans
|
321 |
583 |
1.8e-19 |
PFAM |
|
low complexity region
|
676 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193503
AA Change: S642G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: S642G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
38 |
68 |
1e-7 |
BLAST |
|
ANK
|
72 |
102 |
1.5e-2 |
SMART |
|
ANK
|
110 |
139 |
2.8e-6 |
SMART |
|
ANK
|
156 |
185 |
1.2e-6 |
SMART |
|
Blast:ANK
|
189 |
217 |
4e-10 |
BLAST |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
335 |
522 |
2.7e-12 |
PFAM |
|
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0874 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
| Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Trpv5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Trpv5
|
APN |
6 |
41,652,309 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01704:Trpv5
|
APN |
6 |
41,630,192 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01860:Trpv5
|
APN |
6 |
41,637,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Trpv5
|
APN |
6 |
41,652,912 (GRCm39) |
missense |
probably benign |
0.09 |
|
Firesign
|
UTSW |
6 |
41,634,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
gingame
|
UTSW |
6 |
41,647,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0515:Trpv5
|
UTSW |
6 |
41,651,145 (GRCm39) |
intron |
probably benign |
|
|
R1581:Trpv5
|
UTSW |
6 |
41,630,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Trpv5
|
UTSW |
6 |
41,652,854 (GRCm39) |
nonsense |
probably null |
|
|
R1658:Trpv5
|
UTSW |
6 |
41,651,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Trpv5
|
UTSW |
6 |
41,634,731 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1955:Trpv5
|
UTSW |
6 |
41,634,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Trpv5
|
UTSW |
6 |
41,636,662 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2331:Trpv5
|
UTSW |
6 |
41,636,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Trpv5
|
UTSW |
6 |
41,651,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2973:Trpv5
|
UTSW |
6 |
41,630,165 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3877:Trpv5
|
UTSW |
6 |
41,637,277 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3923:Trpv5
|
UTSW |
6 |
41,630,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Trpv5
|
UTSW |
6 |
41,636,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Trpv5
|
UTSW |
6 |
41,634,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4757:Trpv5
|
UTSW |
6 |
41,630,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5013:Trpv5
|
UTSW |
6 |
41,636,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Trpv5
|
UTSW |
6 |
41,652,879 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5330:Trpv5
|
UTSW |
6 |
41,637,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5331:Trpv5
|
UTSW |
6 |
41,637,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6270:Trpv5
|
UTSW |
6 |
41,651,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6405:Trpv5
|
UTSW |
6 |
41,651,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Trpv5
|
UTSW |
6 |
41,652,903 (GRCm39) |
missense |
probably benign |
|
|
R6669:Trpv5
|
UTSW |
6 |
41,634,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Trpv5
|
UTSW |
6 |
41,630,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6817:Trpv5
|
UTSW |
6 |
41,634,941 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7021:Trpv5
|
UTSW |
6 |
41,630,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7069:Trpv5
|
UTSW |
6 |
41,652,894 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7161:Trpv5
|
UTSW |
6 |
41,637,470 (GRCm39) |
nonsense |
probably null |
|
|
R7241:Trpv5
|
UTSW |
6 |
41,652,242 (GRCm39) |
nonsense |
probably null |
|
|
R7505:Trpv5
|
UTSW |
6 |
41,651,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7806:Trpv5
|
UTSW |
6 |
41,651,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8060:Trpv5
|
UTSW |
6 |
41,651,465 (GRCm39) |
nonsense |
probably null |
|
|
R8407:Trpv5
|
UTSW |
6 |
41,652,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8428:Trpv5
|
UTSW |
6 |
41,630,182 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8435:Trpv5
|
UTSW |
6 |
41,647,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Trpv5
|
UTSW |
6 |
41,652,313 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8885:Trpv5
|
UTSW |
6 |
41,630,192 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8896:Trpv5
|
UTSW |
6 |
41,647,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Trpv5
|
UTSW |
6 |
41,637,456 (GRCm39) |
missense |
probably null |
1.00 |
|
R9594:Trpv5
|
UTSW |
6 |
41,647,773 (GRCm39) |
missense |
probably benign |
|
|
R9701:Trpv5
|
UTSW |
6 |
41,651,594 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Trpv5
|
UTSW |
6 |
41,651,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCAAAGCAGCTCTCTTC -3'
(R):5'- TTGAACACCACCAGGAGCAG -3'
Sequencing Primer
(F):5'- AAAGCAGCTCTCTTCTCCCTG -3'
(R):5'- GGAGCAGAATCCTTATCGAGTACTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation