Incidental Mutation 'R7458:Wdpcp'
| ID |
578260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdpcp
|
| Ensembl Gene |
ENSMUSG00000020319 |
| Gene Name |
WD repeat containing planar cell polarity effector |
| Synonyms |
homoloc-13, AV249152 |
| MMRRC Submission |
045532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R7458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21698919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 566
(I566T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
| AlphaFold |
Q8C456 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020568
AA Change: I566T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: I566T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3312
|
48 |
591 |
4.4e-278 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. [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 |
|---|
| 2900026A02Rik |
C |
T |
5: 113,338,510 (GRCm39) |
V501M |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,240,777 (GRCm39) |
F880S |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,976,516 (GRCm39) |
R206S |
possibly damaging |
Het |
| Akr1a1 |
A |
T |
4: 116,495,014 (GRCm39) |
M286K |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,492 (GRCm39) |
E406G |
possibly damaging |
Het |
| Ambra1 |
T |
A |
2: 91,748,029 (GRCm39) |
V1255D |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,598,604 (GRCm39) |
T23I |
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,196 (GRCm39) |
Y711C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,307,119 (GRCm39) |
E1034G |
|
Het |
| Bricd5 |
T |
C |
17: 24,693,476 (GRCm39) |
I39T |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,800,096 (GRCm39) |
T163A |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,436,978 (GRCm39) |
V72A |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,263,779 (GRCm39) |
D199G |
probably damaging |
Het |
| Clip1 |
T |
G |
5: 123,778,609 (GRCm39) |
E438A |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,669 (GRCm39) |
I553M |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,003,738 (GRCm39) |
N2605K |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,155,094 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,161,036 (GRCm39) |
D2168V |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,290 (GRCm39) |
N443K |
possibly damaging |
Het |
| Gak |
T |
C |
5: 108,730,940 (GRCm39) |
D822G |
probably benign |
Het |
| Gm9493 |
A |
G |
19: 23,597,277 (GRCm39) |
I58V |
probably benign |
Het |
| Gpr65 |
T |
G |
12: 98,242,324 (GRCm39) |
S326A |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,057,739 (GRCm39) |
E231G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,122,802 (GRCm39) |
D718G |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,223 (GRCm39) |
M1V |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,293,660 (GRCm39) |
|
probably null |
Het |
| Lipn |
A |
G |
19: 34,049,242 (GRCm39) |
N136S |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,258 (GRCm39) |
T2389I |
unknown |
Het |
| Myo7b |
G |
A |
18: 32,121,604 (GRCm39) |
A767V |
possibly damaging |
Het |
| Necab1 |
A |
T |
4: 15,111,244 (GRCm39) |
S61R |
possibly damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,994 (GRCm39) |
T278A |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,699,260 (GRCm39) |
R21H |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,667,560 (GRCm39) |
T116I |
probably damaging |
Het |
| Pnn |
C |
A |
12: 59,119,200 (GRCm39) |
S594R |
unknown |
Het |
| Psen1 |
T |
A |
12: 83,761,540 (GRCm39) |
I114N |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,188 (GRCm39) |
V82E |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,368 (GRCm39) |
I246T |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,296,390 (GRCm39) |
Y308F |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,662,930 (GRCm39) |
A166E |
possibly damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,382,881 (GRCm39) |
V140D |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,937 (GRCm39) |
T1704A |
probably benign |
Het |
| Txndc12 |
A |
G |
4: 108,718,606 (GRCm39) |
D159G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,427,139 (GRCm39) |
L16P |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,692,532 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn2r58 |
C |
A |
7: 41,487,123 (GRCm39) |
A591S |
probably benign |
Het |
| Zfp866 |
T |
A |
8: 70,218,202 (GRCm39) |
K473* |
probably null |
Het |
|
| Other mutations in Wdpcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Wdpcp
|
APN |
11 |
21,609,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Wdpcp
|
APN |
11 |
21,661,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01876:Wdpcp
|
APN |
11 |
21,763,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01879:Wdpcp
|
APN |
11 |
21,661,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01913:Wdpcp
|
APN |
11 |
21,698,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Wdpcp
|
APN |
11 |
21,661,958 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03326:Wdpcp
|
APN |
11 |
21,835,048 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0040:Wdpcp
|
UTSW |
11 |
21,661,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Wdpcp
|
UTSW |
11 |
21,661,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Wdpcp
|
UTSW |
11 |
21,807,444 (GRCm39) |
splice site |
probably null |
|
|
R2159:Wdpcp
|
UTSW |
11 |
21,807,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2163:Wdpcp
|
UTSW |
11 |
21,835,015 (GRCm39) |
nonsense |
probably null |
|
|
R2165:Wdpcp
|
UTSW |
11 |
21,641,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Wdpcp
|
UTSW |
11 |
21,645,271 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4239:Wdpcp
|
UTSW |
11 |
21,645,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4636:Wdpcp
|
UTSW |
11 |
21,661,568 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5558:Wdpcp
|
UTSW |
11 |
21,661,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Wdpcp
|
UTSW |
11 |
21,661,631 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6678:Wdpcp
|
UTSW |
11 |
21,671,105 (GRCm39) |
missense |
probably benign |
|
|
R6762:Wdpcp
|
UTSW |
11 |
21,671,244 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6957:Wdpcp
|
UTSW |
11 |
21,671,154 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7380:Wdpcp
|
UTSW |
11 |
21,661,585 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7876:Wdpcp
|
UTSW |
11 |
21,661,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8351:Wdpcp
|
UTSW |
11 |
21,698,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Wdpcp
|
UTSW |
11 |
21,671,205 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Wdpcp
|
UTSW |
11 |
21,645,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Wdpcp
|
UTSW |
11 |
21,610,924 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9072:Wdpcp
|
UTSW |
11 |
21,614,014 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9188:Wdpcp
|
UTSW |
11 |
21,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Wdpcp
|
UTSW |
11 |
21,835,040 (GRCm39) |
missense |
probably benign |
|
|
R9332:Wdpcp
|
UTSW |
11 |
21,661,522 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9673:Wdpcp
|
UTSW |
11 |
21,671,285 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
RF021:Wdpcp
|
UTSW |
11 |
21,661,587 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGTCATGTGCTGGAGGATC -3'
(R):5'- GCTATTGACCACCTTCCTGAAG -3'
Sequencing Primer
(F):5'- GATCTTAGTGGGCCAGACCTTC -3'
(R):5'- TCCATGTGTCTAAGGCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation