Incidental Mutation 'R0040:Wdpcp'
ID |
15537 |
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 |
038334-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.925)
|
Stock # |
R0040 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21661638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 303
(I303M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
AlphaFold |
Q8C456 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020568
AA Change: I303M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020568 Gene: ENSMUSG00000020319 AA Change: I303M
Domain | Start | End | E-Value | Type |
Pfam:DUF3312
|
48 |
591 |
4.4e-278 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143608
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156624
|
Meta Mutation Damage Score |
0.4503 |
Coding Region Coverage |
- 1x: 84.2%
- 3x: 77.3%
- 10x: 61.4%
- 20x: 43.8%
|
Validation Efficiency |
96% (74/77) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
G |
6: 121,622,165 (GRCm39) |
L356R |
possibly damaging |
Het |
Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
Arpp21 |
T |
C |
9: 111,976,477 (GRCm39) |
|
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
Cacng5 |
A |
T |
11: 107,775,336 (GRCm39) |
L11Q |
probably damaging |
Het |
Ccdc73 |
T |
C |
2: 104,822,429 (GRCm39) |
S793P |
probably damaging |
Het |
Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,497,212 (GRCm39) |
P3062S |
probably damaging |
Het |
Dctn4 |
A |
G |
18: 60,677,114 (GRCm39) |
N145D |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
Gucy2g |
T |
A |
19: 55,205,734 (GRCm39) |
T709S |
possibly damaging |
Het |
Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,192,401 (GRCm39) |
Y131C |
probably damaging |
Het |
Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
Lox |
A |
T |
18: 52,653,898 (GRCm39) |
H399Q |
possibly damaging |
Het |
Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
Mpp7 |
A |
T |
18: 7,403,180 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
Olfml2b |
A |
G |
1: 170,496,320 (GRCm39) |
H317R |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
Pira6 |
A |
G |
7: 4,284,482 (GRCm39) |
|
noncoding transcript |
Het |
Pkhd1l1 |
T |
A |
15: 44,437,021 (GRCm39) |
Y3460N |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
Rnf168 |
T |
A |
16: 32,096,991 (GRCm39) |
|
probably null |
Het |
Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
Scara5 |
C |
T |
14: 66,000,166 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
Synpr |
G |
A |
14: 13,563,024 (GRCm38) |
A86T |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
Zfp867 |
C |
T |
11: 59,354,691 (GRCm39) |
A213T |
possibly damaging |
Het |
Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
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 |
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 |
R7458:Wdpcp
|
UTSW |
11 |
21,698,919 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
|
Posted On |
2012-12-21 |