Incidental Mutation 'R8407:Trpv5'
ID |
652466 |
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 |
067814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R8407 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41629107-41657703 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41652272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 138
(S138P)
|
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: S138P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000031901 Gene: ENSMUSG00000036899 AA Change: S138P
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: S138P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141421 Gene: ENSMUSG00000036899 AA Change: S138P
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
T |
C |
11: 100,384,897 (GRCm39) |
I629V |
possibly damaging |
Het |
Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
Arhgef12 |
C |
T |
9: 42,937,475 (GRCm39) |
|
probably null |
Het |
BC048562 |
T |
A |
9: 108,315,631 (GRCm39) |
S12R |
possibly damaging |
Het |
Calhm2 |
G |
A |
19: 47,098,755 (GRCm39) |
Q310* |
probably null |
Het |
Celsr3 |
A |
G |
9: 108,706,256 (GRCm39) |
E913G |
probably damaging |
Het |
Cep68 |
T |
C |
11: 20,190,446 (GRCm39) |
S189G |
possibly damaging |
Het |
Cilp |
C |
A |
9: 65,181,898 (GRCm39) |
P336T |
probably damaging |
Het |
Cnot4 |
A |
G |
6: 35,033,154 (GRCm39) |
S288P |
probably benign |
Het |
Cst13 |
T |
C |
2: 148,665,124 (GRCm39) |
S40P |
probably damaging |
Het |
Cyp4f37 |
A |
T |
17: 32,853,158 (GRCm39) |
D374V |
probably damaging |
Het |
Ddit3 |
A |
G |
10: 127,131,318 (GRCm39) |
T37A |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,350,104 (GRCm39) |
N2343S |
probably benign |
Het |
Emp3 |
G |
A |
7: 45,569,445 (GRCm39) |
P32L |
probably damaging |
Het |
Esyt1 |
G |
T |
10: 128,347,796 (GRCm39) |
L965M |
probably damaging |
Het |
Fbxw28 |
T |
A |
9: 109,155,269 (GRCm39) |
I406L |
probably benign |
Het |
Fgf10 |
A |
G |
13: 118,851,938 (GRCm39) |
T7A |
possibly damaging |
Het |
Frs3 |
A |
T |
17: 48,009,552 (GRCm39) |
D11V |
probably damaging |
Het |
Glmn |
A |
G |
5: 107,718,057 (GRCm39) |
S287P |
probably benign |
Het |
Glyctk |
C |
T |
9: 106,033,141 (GRCm39) |
A291T |
probably benign |
Het |
H2bc12 |
G |
T |
13: 22,220,217 (GRCm39) |
G54V |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,603,119 (GRCm39) |
F629I |
possibly damaging |
Het |
Kcnh8 |
C |
A |
17: 53,212,101 (GRCm39) |
A633E |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,488 (GRCm39) |
N929S |
probably benign |
Het |
Ldlrap1 |
T |
C |
4: 134,484,736 (GRCm39) |
K86R |
probably damaging |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Lmod1 |
C |
A |
1: 135,292,734 (GRCm39) |
P530T |
possibly damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,763 (GRCm39) |
K206R |
probably benign |
Het |
Lnp1 |
A |
T |
16: 56,748,251 (GRCm39) |
S14T |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,974,904 (GRCm39) |
Y646N |
possibly damaging |
Het |
Mapk14 |
G |
A |
17: 28,963,983 (GRCm39) |
V290I |
probably benign |
Het |
Mrpl22 |
C |
A |
11: 58,066,156 (GRCm39) |
Y83* |
probably null |
Het |
Myh6 |
T |
C |
14: 55,201,388 (GRCm39) |
N104D |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,554,683 (GRCm39) |
M903L |
probably damaging |
Het |
Nfat5 |
C |
T |
8: 108,094,047 (GRCm39) |
Q763* |
probably null |
Het |
Or5w19 |
A |
C |
2: 87,698,437 (GRCm39) |
Y34S |
probably damaging |
Het |
Plin1 |
T |
C |
7: 79,373,051 (GRCm39) |
D306G |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,076,042 (GRCm39) |
|
probably null |
Het |
Prelid1 |
T |
A |
13: 55,470,672 (GRCm39) |
H33Q |
probably damaging |
Het |
Prkcz |
C |
T |
4: 155,352,673 (GRCm39) |
A485T |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,662,057 (GRCm39) |
E1169G |
probably null |
Het |
Rps19 |
C |
A |
7: 24,588,517 (GRCm39) |
T181K |
unknown |
Het |
Skic2 |
G |
A |
17: 35,060,103 (GRCm39) |
A889V |
probably benign |
Het |
Slc22a3 |
A |
C |
17: 12,640,368 (GRCm39) |
C538G |
probably benign |
Het |
Slc2a10 |
T |
A |
2: 165,356,787 (GRCm39) |
F149Y |
possibly damaging |
Het |
Smarcal1 |
A |
G |
1: 72,640,554 (GRCm39) |
I516M |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,318,190 (GRCm39) |
W601R |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
G |
11: 116,143,589 (GRCm39) |
S369P |
probably benign |
Het |
Tex2 |
C |
T |
11: 106,459,221 (GRCm39) |
E70K |
probably damaging |
Het |
Ticam2 |
A |
G |
18: 46,693,590 (GRCm39) |
S166P |
probably damaging |
Het |
Ttll8 |
C |
T |
15: 88,798,741 (GRCm39) |
V665I |
probably benign |
Het |
Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
Zbtb4 |
T |
C |
11: 69,669,101 (GRCm39) |
V608A |
probably benign |
Het |
Zfp957 |
A |
G |
14: 79,451,352 (GRCm39) |
V149A |
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 |
|
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 |
|
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'- TAGGGGTTTGGGATCACCTACC -3'
(R):5'- CTGAAGAGCTGTCAGGAAGC -3'
Sequencing Primer
(F):5'- GGAGGGATTGGCCTCTAGTTCTAAG -3'
(R):5'- AGCTGTCAGGAAGCTTCTGTAAG -3'
|
Posted On |
2020-10-20 |