Incidental Mutation 'R8762:Trpv5'
ID |
671842 |
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 |
068622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R8762 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41652313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031901]
[ENSMUST00000193503]
|
AlphaFold |
P69744 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031901
AA Change: V124A
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031901 Gene: ENSMUSG00000036899 AA Change: V124A
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
AA Change: V124A
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141421 Gene: ENSMUSG00000036899 AA Change: V124A
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 |
0.0735 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (66/66) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
A |
G |
11: 101,301,226 (GRCm39) |
V272A |
probably benign |
Het |
Acbd6 |
G |
A |
1: 155,562,706 (GRCm39) |
E236K |
probably damaging |
Het |
Actr1b |
T |
C |
1: 36,748,909 (GRCm39) |
N9S |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,401,595 (GRCm39) |
D133E |
probably benign |
Het |
Adam6b |
G |
A |
12: 113,453,227 (GRCm39) |
V15M |
probably damaging |
Het |
Adam9 |
T |
A |
8: 25,457,235 (GRCm39) |
N631I |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,714,461 (GRCm39) |
N157S |
probably benign |
Het |
Amy2a1 |
A |
T |
3: 113,325,276 (GRCm39) |
|
probably benign |
Het |
Aplnr |
A |
T |
2: 84,967,515 (GRCm39) |
Y180F |
probably benign |
Het |
Arhgef7 |
T |
C |
8: 11,831,216 (GRCm39) |
V105A |
probably benign |
Het |
Bambi |
G |
A |
18: 3,511,277 (GRCm39) |
D33N |
probably damaging |
Het |
Bicc1 |
G |
A |
10: 70,779,216 (GRCm39) |
T724I |
probably benign |
Het |
Brd2 |
T |
A |
17: 34,335,934 (GRCm39) |
Q93L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,972,759 (GRCm39) |
D222G |
possibly damaging |
Het |
Cdh1 |
G |
T |
8: 107,386,336 (GRCm39) |
D420Y |
probably damaging |
Het |
Cep162 |
T |
C |
9: 87,109,314 (GRCm39) |
S430G |
probably benign |
Het |
Cfap161 |
T |
A |
7: 83,443,282 (GRCm39) |
R27S |
possibly damaging |
Het |
Chek1 |
C |
T |
9: 36,629,636 (GRCm39) |
A237T |
probably benign |
Het |
Chrna3 |
T |
A |
9: 54,922,995 (GRCm39) |
K271M |
probably damaging |
Het |
Coro7 |
A |
C |
16: 4,452,203 (GRCm39) |
V410G |
probably benign |
Het |
Crmp1 |
C |
A |
5: 37,441,440 (GRCm39) |
N507K |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
Disc1 |
A |
G |
8: 125,881,796 (GRCm39) |
D577G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,156,811 (GRCm39) |
Y649H |
possibly damaging |
Het |
Flywch1 |
A |
G |
17: 23,975,731 (GRCm39) |
S504P |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,097,851 (GRCm39) |
V46D |
probably damaging |
Het |
Fpr-rs7 |
C |
T |
17: 20,333,789 (GRCm39) |
V234M |
probably benign |
Het |
Ighv5-16 |
T |
C |
12: 113,802,288 (GRCm39) |
N71D |
probably benign |
Het |
Kash5 |
G |
T |
7: 44,845,481 (GRCm39) |
D152E |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,937,157 (GRCm39) |
M480V |
probably benign |
Het |
L3mbtl3 |
T |
A |
10: 26,152,121 (GRCm39) |
D825V |
probably damaging |
Het |
Lef1 |
T |
A |
3: 130,988,366 (GRCm39) |
M311K |
probably damaging |
Het |
Magi1 |
T |
A |
6: 93,792,789 (GRCm39) |
R150* |
probably null |
Het |
Magi3 |
C |
T |
3: 103,958,169 (GRCm39) |
V639I |
probably damaging |
Het |
Mocos |
A |
T |
18: 24,812,554 (GRCm39) |
R483W |
probably damaging |
Het |
Mrps11 |
G |
T |
7: 78,438,487 (GRCm39) |
V80F |
possibly damaging |
Het |
Myh2 |
A |
T |
11: 67,084,578 (GRCm39) |
R1706W |
probably damaging |
Het |
Neurod6 |
T |
A |
6: 55,656,228 (GRCm39) |
L136F |
probably damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,711,306 (GRCm39) |
Y308N |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,525,905 (GRCm39) |
|
probably benign |
Het |
Or1e28-ps1 |
G |
T |
11: 73,615,307 (GRCm39) |
T181N |
unknown |
Het |
Or5g25 |
A |
T |
2: 85,478,034 (GRCm39) |
S210R |
probably damaging |
Het |
Oscar |
A |
G |
7: 3,613,900 (GRCm39) |
S227P |
probably benign |
Het |
Phgdh |
A |
C |
3: 98,247,024 (GRCm39) |
I42R |
possibly damaging |
Het |
Pla2g4a |
C |
T |
1: 149,761,935 (GRCm39) |
G174D |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,213 (GRCm39) |
T203A |
possibly damaging |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Plppr4 |
A |
T |
3: 117,119,482 (GRCm39) |
V309D |
probably damaging |
Het |
Pltp |
T |
C |
2: 164,686,652 (GRCm39) |
K324E |
possibly damaging |
Het |
Pml |
C |
T |
9: 58,154,348 (GRCm39) |
R175H |
probably damaging |
Het |
Psg20 |
C |
A |
7: 18,408,557 (GRCm39) |
V388F |
probably benign |
Het |
Qrfprl |
T |
C |
6: 65,424,393 (GRCm39) |
V182A |
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,237,557 (GRCm39) |
D209G |
possibly damaging |
Het |
Rif1 |
A |
T |
2: 52,001,742 (GRCm39) |
N90I |
|
Het |
Sec31a |
T |
C |
5: 100,526,688 (GRCm39) |
H57R |
|
Het |
Sidt1 |
T |
C |
16: 44,152,707 (GRCm39) |
N62S |
probably benign |
Het |
Slc18a2 |
T |
A |
19: 59,261,355 (GRCm39) |
M172K |
probably benign |
Het |
Slc34a3 |
T |
C |
2: 25,121,003 (GRCm39) |
T362A |
probably benign |
Het |
Smtn |
T |
G |
11: 3,476,407 (GRCm39) |
D158A |
probably benign |
Het |
Spen |
C |
T |
4: 141,200,261 (GRCm39) |
V2789M |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,595,636 (GRCm39) |
V383A |
unknown |
Het |
Themis3 |
A |
T |
17: 66,866,676 (GRCm39) |
M188K |
probably benign |
Het |
Tshr |
G |
A |
12: 91,504,324 (GRCm39) |
V421M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,539,426 (GRCm39) |
D34520V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,294 (GRCm39) |
Y17876* |
probably null |
Het |
Zrsr2-ps1 |
T |
C |
11: 22,923,694 (GRCm39) |
L156P |
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 |
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 |
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'- GAGGGATTGGCCTCTAGTTC -3'
(R):5'- CAGGAGTCTGAGGGATTAACTATC -3'
Sequencing Primer
(F):5'- GGATTGGCCTCTAGTTCTAAGCC -3'
(R):5'- CCTTAGTTCCTGACTATTCTCCAATC -3'
|
Posted On |
2021-04-30 |