Incidental Mutation 'IGL00823:Wdpcp'
ID |
14832 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdpcp
|
Ensembl Gene |
ENSMUSG00000020319 |
Gene Name |
WD repeat containing planar cell polarity effector |
Synonyms |
homoloc-13, AV249152 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.925)
|
Stock # |
IGL00823
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21609995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 21
(D21G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
[ENSMUST00000131135]
|
AlphaFold |
Q8C456 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020568
AA Change: D21G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020568 Gene: ENSMUSG00000020319 AA Change: D21G
Domain | Start | End | E-Value | Type |
Pfam:DUF3312
|
48 |
591 |
4.4e-278 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131135
AA Change: D21G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120122 Gene: ENSMUSG00000020319 AA Change: D21G
Domain | Start | End | E-Value | Type |
Pfam:DUF3312
|
48 |
97 |
1.1e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149757
|
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 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
Other mutations in Wdpcp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |