Incidental Mutation 'IGL01860:Trpv5'
| ID |
178294 |
| 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 # |
IGL01860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41637229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 419
(H419L)
|
| 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: H419L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: H419L
| 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: H370L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: H370L
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
| Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
| Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
| Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,438,444 (GRCm39) |
|
probably benign |
Het |
| Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
| Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,312,906 (GRCm39) |
T802I |
probably benign |
Het |
| Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,861,417 (GRCm39) |
M1051T |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
| Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnc1 |
T |
C |
7: 46,077,554 (GRCm39) |
L452P |
probably damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
| Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
| Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
| Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
| Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,965,698 (GRCm39) |
Y334C |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation