Incidental Mutation 'R4239:Wdpcp'
| ID |
321276 |
| 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 |
041056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R4239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21645271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 233
(M233K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
| AlphaFold |
Q8C456 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020568
AA Change: M233K
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: M233K
| 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: ENSMUST00000149757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156624
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (55/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,433,212 (GRCm39) |
I1765F |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,237,414 (GRCm39) |
I696N |
probably damaging |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,035,710 (GRCm39) |
N759D |
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,641,239 (GRCm39) |
L18P |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,312,247 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
T |
C |
8: 111,585,244 (GRCm39) |
I303T |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,932,001 (GRCm39) |
V363I |
unknown |
Het |
| Crip3 |
A |
T |
17: 46,742,156 (GRCm39) |
K184* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,628,248 (GRCm39) |
Q1459* |
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Ehhadh |
T |
G |
16: 21,581,438 (GRCm39) |
D518A |
probably damaging |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fbxl3 |
G |
A |
14: 103,326,854 (GRCm39) |
S176L |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,352,509 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,196,950 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,191,224 (GRCm39) |
I1086T |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
| Or51f1d |
T |
C |
7: 102,701,003 (GRCm39) |
V166A |
probably benign |
Het |
| Or5g25 |
T |
A |
2: 85,478,647 (GRCm39) |
Q6L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,186,078 (GRCm39) |
I682F |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,986,344 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
T |
A |
13: 27,821,549 (GRCm39) |
Q129L |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,163 (GRCm39) |
Y763C |
probably damaging |
Het |
| Psma7 |
T |
C |
2: 179,681,304 (GRCm39) |
|
probably benign |
Het |
| Serpinb6b |
G |
C |
13: 33,156,246 (GRCm39) |
C112S |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Slc35f5 |
G |
A |
1: 125,500,211 (GRCm39) |
A242T |
possibly damaging |
Het |
| Speer4b |
T |
C |
5: 27,706,311 (GRCm39) |
R19G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trbv12-2 |
A |
G |
6: 41,095,831 (GRCm39) |
N12D |
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,001 (GRCm39) |
|
probably null |
Het |
| Upf3a |
A |
G |
8: 13,846,591 (GRCm39) |
R324G |
probably benign |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Wbp2 |
G |
A |
11: 115,971,373 (GRCm39) |
|
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
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 |
21,645,269 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTAAGCACATGTTGAAGATGC -3'
(R):5'- AGTTGTCTGCTTACACTCGAG -3'
Sequencing Primer
(F):5'- GCACATGTTGAAGATGCATATTTAC -3'
(R):5'- GTCTGCTTACACTCGAGTTATGATAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation