Incidental Mutation 'IGL01322:Wdpcp'
ID74089
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: 0.892) question?
Stock #IGL01322
Quality Score
Status
Chromosome11
Chromosomal Location21572235-21898989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21711949 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 407 (L407P)
Ref Sequence ENSEMBL: ENSMUSP00000020568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020568]
Predicted Effect probably damaging
Transcript: ENSMUST00000020568
AA Change: L407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: L407P

DomainStartEndE-ValueType
Pfam:DUF3312 48 591 4.4e-278 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156624
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Wdpcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Wdpcp APN 11 21659995 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
R8351:Wdpcp UTSW 11 21748931 missense probably damaging 1.00
R8503:Wdpcp UTSW 11 21721205 nonsense probably null
R8670:Wdpcp UTSW 11 21695196 missense probably benign 0.00
R8710:Wdpcp UTSW 11 21660924 missense probably benign 0.12
RF021:Wdpcp UTSW 11 21711587 nonsense probably null
Posted On2013-10-07