|Institutional Source||Beutler Lab|
|Gene Name||WD repeat containing planar cell polarity effector|
|Is this an essential gene?||Probably non essential (E-score: 0.230)|
|Stock #||R7380 (G1)|
|Chromosomal Location||21572235-21898989 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21711585 bp|
|Amino Acid Change||Cysteine to Serine at position 286 (C286S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020568 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020568]|
|Predicted Effect||possibly damaging
AA Change: C286S
PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: C286S
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
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||
|Other mutations in Wdpcp||
(F):5'- GCTTGACAGCTGAAGCAAAG -3'
(R):5'- ACTTGGGTGGCAGCTTATC -3'
(F):5'- AGCAAAGCTAAGGTCTGTCTGTC -3'
(R):5'- TGAAGGCCTAAGTTCAGCCTG -3'