Incidental Mutation 'R4636:Wdpcp'
| ID |
350742 |
| Institutional Source |
Beutler Lab
|
| 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: 0.932)
|
| Stock # |
R4636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21661568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 280
(E280G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
| AlphaFold |
Q8C456 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020568
AA Change: E280G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: E280G
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
| Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
| Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,360,301 (GRCm39) |
N438K |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,509,836 (GRCm39) |
Y166N |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,358,034 (GRCm39) |
V5L |
probably benign |
Het |
| Nifk |
T |
A |
1: 118,257,217 (GRCm39) |
Y117N |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
| Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACCTGTCCTGTGCTTGAC -3'
(R):5'- ATCAATGAAGGCCTAAGTTCAGCC -3'
Sequencing Primer
(F):5'- CTGTGCTTGACAGCTGAAGC -3'
(R):5'- TAAGTTCAGCCTGGGCCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation