Incidental Mutation 'R0040:Wdpcp'
ID64681
Institutional Source Beutler Lab
Gene Symbol Wdpcp
Ensembl Gene ENSMUSG00000020319
Gene NameWD repeat containing planar cell polarity effector
SynonymsAV249152, homoloc-13
MMRRC Submission 038334-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.272) question?
Stock #R0040 (G1)
Quality Score94
Status Validated
Chromosome11
Chromosomal Location21572235-21898989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21711638 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 303 (I303M)
Ref Sequence ENSEMBL: ENSMUSP00000020568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020568]
Predicted Effect probably damaging
Transcript: ENSMUST00000020568
AA Change: I303M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: I303M

DomainStartEndE-ValueType
Pfam:DUF3312 48 591 4.4e-278 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156624
Meta Mutation Damage Score 0.102 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahrr G A 13: 74,283,024 probably benign Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Atad5 A G 11: 80,098,014 T666A probably benign Het
Atcay C T 10: 81,210,519 probably null Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Cfap54 T A 10: 92,977,039 Q1344L probably benign Het
Cyb5r4 A G 9: 87,066,742 probably null Het
Cyp2b9 G T 7: 26,173,474 S14I possibly damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Eml2 T C 7: 19,196,614 V373A possibly damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fbxo28 G T 1: 182,326,240 probably benign Het
Fbxo44 A G 4: 148,158,695 L89P probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gm884 G A 11: 103,542,990 P942S probably damaging Het
Gm9955 G T 18: 24,709,152 probably benign Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Hspa12a T C 19: 58,799,624 T589A probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kpna1 T A 16: 36,023,241 D328E probably damaging Het
Krt71 T A 15: 101,738,433 H280L possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Med1 C T 11: 98,166,255 probably null Het
Mif T A 10: 75,859,780 H63L probably damaging Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nme2 A T 11: 93,951,930 probably null Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Nup210l T A 3: 90,181,905 V1165D probably damaging Het
Nup98 T A 7: 102,192,034 T122S probably damaging Het
Olfr1106 C T 2: 87,049,204 E11K probably damaging Het
Olfr304 A T 7: 86,386,507 L51Q probably benign Het
Olfr354 T C 2: 36,907,458 F171L probably damaging Het
Olfr771 T A 10: 129,160,739 I82L probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Phrf1 G T 7: 141,243,857 R196L probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rbm39 G A 2: 156,148,179 T496I possibly damaging Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Rtf2 G A 2: 172,444,696 S40N probably damaging Het
Runx2 G A 17: 44,608,254 S481L possibly damaging Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Siglec15 G A 18: 78,048,877 probably benign Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Vmn1r28 T C 6: 58,265,894 Y241H probably damaging Het
Vmn2r110 A T 17: 20,596,084 V59D probably benign Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp334 A G 2: 165,381,572 Y184H probably benign Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zkscan3 A T 13: 21,394,920 probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGTTCGCACAGAATGGAGTCCC -3'
(R):5'- CTGCCAAGAGCTGGATGTTGATAGG -3'

Sequencing Primer
(F):5'- CAGAATGGAGTCCCCTGGATG -3'
(R):5'- GTTGCTGCCAACCAGAAG -3'
Posted On2013-08-06