Incidental Mutation 'R1658:Trpv5'
ID |
186527 |
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 |
039694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R1658 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 41651216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 277
(D277Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031901]
[ENSMUST00000193503]
|
AlphaFold |
P69744 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031901
AA Change: D277Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031901 Gene: ENSMUSG00000036899 AA Change: D277Y
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 |
probably benign
Transcript: ENSMUST00000193503
|
SMART Domains |
Protein: ENSMUSP00000141421 Gene: ENSMUSG00000036899
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
T |
G |
5: 129,255,164 (GRCm39) |
S604A |
probably benign |
Het |
Apbb1 |
G |
A |
7: 105,223,291 (GRCm39) |
P107S |
probably damaging |
Het |
Baz2a |
T |
A |
10: 127,960,252 (GRCm39) |
M1489K |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,148 (GRCm39) |
S704P |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,779,243 (GRCm39) |
V351A |
probably damaging |
Het |
Chfr |
T |
C |
5: 110,301,035 (GRCm39) |
I312T |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,131,739 (GRCm39) |
V1662A |
possibly damaging |
Het |
Dgkd |
T |
A |
1: 87,853,990 (GRCm39) |
L611Q |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,666,673 (GRCm39) |
V1376A |
probably benign |
Het |
Elp2 |
C |
T |
18: 24,750,470 (GRCm39) |
T269M |
probably benign |
Het |
Ephb6 |
T |
A |
6: 41,591,179 (GRCm39) |
V112E |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
Frem1 |
C |
T |
4: 82,920,045 (GRCm39) |
R437Q |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,057,413 (GRCm39) |
K353M |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,358,399 (GRCm39) |
T46A |
probably damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,334 (GRCm39) |
Q135L |
probably damaging |
Het |
Gstp1 |
A |
T |
19: 4,087,375 (GRCm39) |
M20K |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,649,193 (GRCm39) |
R183G |
probably damaging |
Het |
Ints11 |
A |
G |
4: 155,972,185 (GRCm39) |
K397E |
probably damaging |
Het |
Intu |
A |
G |
3: 40,647,211 (GRCm39) |
T695A |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,099,023 (GRCm39) |
V1437A |
probably damaging |
Het |
Klhl24 |
T |
A |
16: 19,925,842 (GRCm39) |
Y123* |
probably null |
Het |
Lipm |
C |
T |
19: 34,093,847 (GRCm39) |
L255F |
probably benign |
Het |
Max |
A |
T |
12: 76,985,355 (GRCm39) |
M121K |
probably benign |
Het |
Mga |
A |
T |
2: 119,772,170 (GRCm39) |
I1677L |
possibly damaging |
Het |
Msantd1 |
T |
A |
5: 35,078,906 (GRCm39) |
L147Q |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,078,905 (GRCm39) |
L147M |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,896,772 (GRCm39) |
D363G |
possibly damaging |
Het |
Naaa |
T |
C |
5: 92,420,300 (GRCm39) |
|
probably null |
Het |
Ninl |
A |
G |
2: 150,806,079 (GRCm39) |
Y381H |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,589 (GRCm39) |
N1391S |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,789 (GRCm39) |
A236T |
probably damaging |
Het |
Or8g18 |
C |
T |
9: 39,149,255 (GRCm39) |
C155Y |
probably benign |
Het |
Phip |
A |
G |
9: 82,753,551 (GRCm39) |
V1731A |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,931,939 (GRCm39) |
C488* |
probably null |
Het |
Rgs7 |
T |
C |
1: 174,907,120 (GRCm39) |
I374V |
probably benign |
Het |
Rin2 |
A |
T |
2: 145,718,376 (GRCm39) |
M574L |
probably benign |
Het |
Rps18 |
A |
T |
17: 34,171,392 (GRCm39) |
D92E |
probably benign |
Het |
Scrn1 |
T |
A |
6: 54,497,791 (GRCm39) |
I267L |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,532,023 (GRCm39) |
V67A |
probably benign |
Het |
Syne1 |
T |
G |
10: 5,317,616 (GRCm39) |
M493L |
probably benign |
Het |
Tbc1d2 |
G |
A |
4: 46,614,207 (GRCm39) |
R625C |
probably damaging |
Het |
Tcerg1l |
A |
G |
7: 137,995,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,039 (GRCm39) |
V1331E |
probably benign |
Het |
Ticrr |
A |
T |
7: 79,345,297 (GRCm39) |
I1721F |
possibly damaging |
Het |
Tjp2 |
T |
C |
19: 24,090,311 (GRCm39) |
D577G |
probably damaging |
Het |
Tmem38b |
A |
G |
4: 53,840,713 (GRCm39) |
M43V |
probably benign |
Het |
Trabd |
T |
A |
15: 88,970,069 (GRCm39) |
|
probably null |
Het |
Tubb1 |
A |
C |
2: 174,298,416 (GRCm39) |
D67A |
probably damaging |
Het |
Ubxn7 |
A |
G |
16: 32,200,054 (GRCm39) |
|
probably null |
Het |
Ugp2 |
G |
A |
11: 21,283,774 (GRCm39) |
P98S |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,656,955 (GRCm39) |
P150Q |
probably benign |
Het |
Zbtb11 |
A |
T |
16: 55,794,588 (GRCm39) |
H55L |
possibly damaging |
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 |
|
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 |
R2974: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'- CCAAGCAGGACGAAAGTAGTCTCAG -3'
(R):5'- TCTCCGTTCTCCCCAGGAAATACAG -3'
Sequencing Primer
(F):5'- GCTGTTATTTGCACCCATAGGAAC -3'
(R):5'- GTCAGATGTACAACCTGCTACTG -3'
|
Posted On |
2014-05-09 |