Incidental Mutation 'IGL00823:Wdpcp'
ID14832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdpcp
Ensembl Gene ENSMUSG00000020319
Gene NameWD repeat containing planar cell polarity effector
SynonymsAV249152, homoloc-13
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.714) question?
Stock #IGL00823
Quality Score
Status
Chromosome11
Chromosomal Location21572235-21898989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21659995 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Wdpcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Wdpcp APN 11 21711949 missense probably damaging 1.00
IGL01876:Wdpcp APN 11 21813383 missense possibly damaging 0.92
IGL01879:Wdpcp APN 11 21711630 missense probably damaging 0.99
IGL01913:Wdpcp APN 11 21748931 missense probably damaging 1.00
IGL02127:Wdpcp APN 11 21711958 missense possibly damaging 0.71
IGL03326:Wdpcp APN 11 21885048 missense probably benign 0.05
R0040:Wdpcp UTSW 11 21711638 missense probably damaging 1.00
R0040:Wdpcp UTSW 11 21711638 missense probably damaging 1.00
R0142:Wdpcp UTSW 11 21857444 splice site probably null
R2159:Wdpcp UTSW 11 21857476 missense probably benign 0.01
R2163:Wdpcp UTSW 11 21885015 nonsense probably null
R2165:Wdpcp UTSW 11 21691884 missense probably damaging 1.00
R4239:Wdpcp UTSW 11 21695269 missense probably damaging 1.00
R4239:Wdpcp UTSW 11 21695271 missense probably benign 0.35
R4636:Wdpcp UTSW 11 21711568 missense probably benign 0.03
R5558:Wdpcp UTSW 11 21711732 missense probably benign 0.00
R6493:Wdpcp UTSW 11 21711631 missense possibly damaging 0.83
R6678:Wdpcp UTSW 11 21721105 missense probably benign
R6762:Wdpcp UTSW 11 21721244 missense probably benign 0.11
R6957:Wdpcp UTSW 11 21721154 missense possibly damaging 0.94
R7380:Wdpcp UTSW 11 21711585 missense possibly damaging 0.52
R7458:Wdpcp UTSW 11 21748919 missense probably damaging 0.97
R7876:Wdpcp UTSW 11 21711486 missense probably benign 0.02
RF021:Wdpcp UTSW 11 21711587 nonsense probably null
Posted On2012-12-06