Incidental Mutation 'R1581:Trpv5'
| ID |
171393 |
| 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 |
039618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41630074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 672
(Y672C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031901]
[ENSMUST00000193503]
|
| AlphaFold |
P69744 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031901
AA Change: Y721C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: Y721C
| 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 damaging
Transcript: ENSMUST00000193503
AA Change: Y672C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: Y672C
| 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: 98.2%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,063,347 (GRCm39) |
E447G |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,598,071 (GRCm39) |
T510A |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,133,153 (GRCm39) |
M1311T |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,326 (GRCm39) |
|
probably benign |
Het |
| Bmyc |
T |
C |
2: 25,597,346 (GRCm39) |
S137P |
probably damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,644 (GRCm39) |
T292I |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,155,745 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
G |
19: 46,751,562 (GRCm39) |
T451A |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,629,676 (GRCm39) |
K20E |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,220,383 (GRCm39) |
M180K |
probably benign |
Het |
| Esr1 |
T |
C |
10: 4,947,905 (GRCm39) |
I486T |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,422,393 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fancg |
G |
A |
4: 43,007,039 (GRCm39) |
P246L |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,293,030 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,961 (GRCm39) |
F110L |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,626 (GRCm39) |
N4120Y |
probably damaging |
Het |
| Gm4884 |
C |
T |
7: 40,693,255 (GRCm39) |
S408L |
probably benign |
Het |
| Gm9476 |
T |
C |
10: 100,142,474 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
C |
11: 57,127,836 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
A |
4: 150,066,971 (GRCm39) |
I472F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,137,092 (GRCm39) |
M632L |
probably benign |
Het |
| Hyou1 |
C |
T |
9: 44,300,167 (GRCm39) |
P819S |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,618,075 (GRCm39) |
E163G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,722,278 (GRCm39) |
V27A |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,407,114 (GRCm39) |
|
probably null |
Het |
| Klk1b22 |
A |
G |
7: 43,765,399 (GRCm39) |
N117S |
possibly damaging |
Het |
| Klrh1 |
T |
C |
6: 129,752,796 (GRCm39) |
D3G |
probably benign |
Het |
| Lpp |
C |
A |
16: 24,500,591 (GRCm39) |
C134* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,347,843 (GRCm39) |
R2951* |
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,899,238 (GRCm39) |
D285E |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,158,237 (GRCm39) |
R1016H |
probably damaging |
Het |
| Mesp2 |
T |
A |
7: 79,462,289 (GRCm39) |
S282T |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,289 (GRCm39) |
D776G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,443,964 (GRCm39) |
T253A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,347 (GRCm39) |
L29H |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,463,147 (GRCm39) |
Y146C |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,108 (GRCm39) |
R414W |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,571,296 (GRCm39) |
I227S |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,121,915 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pradc1 |
G |
A |
6: 85,425,568 (GRCm39) |
R25C |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnd2 |
A |
G |
11: 101,362,022 (GRCm39) |
T192A |
probably benign |
Het |
| Rtbdn |
A |
G |
8: 85,681,695 (GRCm39) |
E131G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,449 (GRCm39) |
V792A |
probably benign |
Het |
| Sacs |
G |
T |
14: 61,451,128 (GRCm39) |
Q4391H |
probably damaging |
Het |
| Scd2 |
A |
G |
19: 44,286,538 (GRCm39) |
S123G |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,181,421 (GRCm39) |
R74G |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,356 (GRCm39) |
Q327L |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,053,505 (GRCm39) |
T127A |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,362,920 (GRCm39) |
V57A |
probably damaging |
Het |
| Tfec |
A |
T |
6: 16,844,243 (GRCm39) |
D101E |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,455,717 (GRCm39) |
H109Q |
probably benign |
Het |
| Tmem67 |
C |
A |
4: 12,047,814 (GRCm39) |
S839I |
probably damaging |
Het |
| Ttc39d |
A |
C |
17: 80,523,913 (GRCm39) |
S191R |
probably benign |
Het |
| Ttll1 |
C |
T |
15: 83,380,478 (GRCm39) |
V296M |
probably damaging |
Het |
| Upp2 |
A |
C |
2: 58,664,177 (GRCm39) |
K130T |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,640 (GRCm39) |
C780R |
probably damaging |
Het |
| Wars1 |
C |
A |
12: 108,841,635 (GRCm39) |
E171* |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,012 (GRCm39) |
S637T |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,549 (GRCm39) |
T139S |
possibly damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,033 (GRCm39) |
L442Q |
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 |
|
|
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 |
|
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'- ACACTTGATGACCATTGCCCATCTC -3'
(R):5'- TTTCCTCCCAGGGTTGAACACCAC -3'
Sequencing Primer
(F):5'- CCATCTCTACAAATGCTCAAATGTG -3'
(R):5'- AACCTTCTGGGACTGAGACTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation