Incidental Mutation 'IGL01876:Wdpcp'
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ID178903
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? Probably essential (E-score: 0.781) question?
Stock #IGL01876
Quality Score
Status
Chromosome11
Chromosomal Location21572235-21898989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21813383 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 581 (D581E)
Ref Sequence ENSEMBL: ENSMUSP00000020568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020568]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020568
AA Change: D581E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: D581E

DomainStartEndE-ValueType
Pfam:DUF3312 48 591 4.4e-278 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128794
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
Arhgap1 A G 2: 91,650,219 probably null Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Cldn6 G T 17: 23,681,184 V41F probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Hnrnpc T C 14: 52,081,873 N91S probably null Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Rabggta T C 14: 55,718,671 T140A probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Svs1 A T 6: 48,990,036 R639S possibly damaging Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Wdpcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Wdpcp APN 11 21659995 missense probably damaging 1.00
IGL01322:Wdpcp APN 11 21711949 missense probably damaging 1.00
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
R8503:Wdpcp UTSW 11 21721205 nonsense probably null
RF021:Wdpcp UTSW 11 21711587 nonsense probably null
Posted On2014-05-07