Incidental Mutation 'R9594:Trpv5'
| ID |
723155 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R9594 (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 41647773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 347
(F347L)
|
| 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: F347L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: F347L
| 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: F298L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: F298L
| 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: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aida |
T |
C |
1: 183,095,012 (GRCm39) |
V151A |
possibly damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Apobec3 |
T |
A |
15: 79,790,653 (GRCm39) |
W332R |
|
Het |
| Atf6 |
A |
G |
1: 170,668,402 (GRCm39) |
V166A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,118,858 (GRCm39) |
|
probably null |
Het |
| Brd3 |
G |
T |
2: 27,340,373 (GRCm39) |
P612Q |
probably damaging |
Het |
| Btg1 |
T |
A |
10: 96,453,263 (GRCm39) |
L26H |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,030,560 (GRCm39) |
D220G |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,183 (GRCm39) |
D157G |
probably benign |
Het |
| Cdhr18 |
A |
T |
14: 13,814,959 (GRCm38) |
L858Q |
unknown |
Het |
| Cimip2b |
T |
G |
4: 43,427,329 (GRCm39) |
T332P |
unknown |
Het |
| Dnah10 |
T |
C |
5: 124,907,107 (GRCm39) |
L4269P |
probably damaging |
Het |
| Dync1li2 |
C |
A |
8: 105,154,752 (GRCm39) |
K285N |
possibly damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,118,740 (GRCm39) |
Q198K |
possibly damaging |
Het |
| Foxn3 |
C |
A |
12: 99,359,294 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 52,664,694 (GRCm39) |
P8L |
probably benign |
Het |
| G6pc1 |
T |
C |
11: 101,258,660 (GRCm39) |
I13T |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,362,470 (GRCm39) |
I356V |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,773 (GRCm39) |
C164S |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,388,848 (GRCm39) |
M308K |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,225,727 (GRCm39) |
K2143E |
probably benign |
Het |
| Grm2 |
G |
A |
9: 106,524,408 (GRCm39) |
T298I |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,326,455 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,560,559 (GRCm39) |
R297C |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,056,757 (GRCm39) |
T711A |
possibly damaging |
Het |
| Ide |
T |
C |
19: 37,264,514 (GRCm39) |
D672G |
|
Het |
| Impg1 |
A |
G |
9: 80,288,923 (GRCm39) |
F378S |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,098,128 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,156,136 (GRCm39) |
D1270G |
probably null |
Het |
| Mbnl1 |
A |
T |
3: 60,520,859 (GRCm39) |
H149L |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,978,592 (GRCm39) |
Y675H |
probably benign |
Het |
| Mrfap1 |
C |
A |
5: 36,953,807 (GRCm39) |
R44L |
probably damaging |
Het |
| Nherf2 |
G |
T |
17: 24,868,922 (GRCm39) |
T68K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,041,889 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,883,785 (GRCm39) |
D62G |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,952 (GRCm39) |
I277V |
probably benign |
Het |
| Or2i1 |
C |
G |
17: 37,508,308 (GRCm39) |
A109P |
possibly damaging |
Het |
| Or5g27 |
C |
T |
2: 85,409,882 (GRCm39) |
Q100* |
probably null |
Het |
| Or5l13 |
T |
C |
2: 87,780,544 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5p59 |
T |
G |
7: 107,702,663 (GRCm39) |
I49S |
probably damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,354 (GRCm39) |
I193F |
probably benign |
Het |
| Pcbd2 |
A |
G |
13: 55,880,849 (GRCm39) |
Y68C |
probably benign |
Het |
| Phf3 |
G |
C |
1: 30,869,003 (GRCm39) |
Q682E |
probably benign |
Het |
| Ptpn6 |
C |
A |
6: 124,704,728 (GRCm39) |
R294L |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,025,026 (GRCm39) |
V1754D |
probably damaging |
Het |
| Rab36 |
T |
A |
10: 74,887,873 (GRCm39) |
I248K |
probably damaging |
Het |
| Rabac1 |
A |
G |
7: 24,671,579 (GRCm39) |
Y114H |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,474,701 (GRCm39) |
V147A |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,144 (GRCm39) |
V217D |
probably damaging |
Het |
| Scarf2 |
G |
T |
16: 17,620,473 (GRCm39) |
C101F |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,089,100 (GRCm39) |
V550A |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,560,235 (GRCm39) |
N289S |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,091 (GRCm39) |
E207G |
|
Het |
| Stac3 |
T |
A |
10: 127,338,654 (GRCm39) |
M1K |
probably null |
Het |
| Stk31 |
C |
T |
6: 49,424,221 (GRCm39) |
T845I |
possibly damaging |
Het |
| Sufu |
T |
C |
19: 46,385,674 (GRCm39) |
Y45H |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,607,109 (GRCm39) |
C1834* |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,686,021 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,265 (GRCm39) |
H13R |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,664,238 (GRCm39) |
Q516K |
probably 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 |
|
|
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 |
|
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'- TATTGGCAACTTCCTAGGCCTATG -3'
(R):5'- GGAATGCAGTTCAAACCTCAAC -3'
Sequencing Primer
(F):5'- GGCAACTTCCTAGGCCTATGAATAG -3'
(R):5'- TTCAAACCTCAACACTGCAAATTGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation