Incidental Mutation 'IGL01704:Trpv5'
ID |
104533 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trpv5
|
Ensembl Gene |
ENSMUSG00000036899 |
Gene Name |
transient receptor potential cation channel, subfamily V, member 5 |
Synonyms |
CaT2, ECaC1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL01704
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41630192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 633
(S633T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031901]
[ENSMUST00000193503]
|
AlphaFold |
P69744 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031901
AA Change: S682T
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031901 Gene: ENSMUSG00000036899 AA Change: S682T
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: S633T
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141421 Gene: ENSMUSG00000036899 AA Change: S633T
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
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 |
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 |
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 |
|
Posted On |
2014-01-21 |