Incidental Mutation 'R6678:Wdpcp'
ID 527352
Institutional Source Beutler Lab
Gene Symbol Wdpcp
Ensembl Gene ENSMUSG00000020319
Gene Name WD repeat containing planar cell polarity effector
Synonyms homoloc-13, AV249152
MMRRC Submission 044797-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R6678 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 21521969-21848686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21671105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 449 (I449V)
Ref Sequence ENSEMBL: ENSMUSP00000020568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020568]
AlphaFold Q8C456
Predicted Effect probably benign
Transcript: ENSMUST00000020568
AA Change: I449V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: I449V

DomainStartEndE-ValueType
Pfam:DUF3312 48 591 4.4e-278 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156624
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,499,891 (GRCm39) N644S possibly damaging Het
Agl C A 3: 116,546,969 (GRCm39) V1294F probably damaging Het
Ash2l A C 8: 26,323,805 (GRCm39) W125G probably damaging Het
Dap C T 15: 31,273,396 (GRCm39) T51M probably benign Het
Dnah12 G A 14: 26,456,847 (GRCm39) R871H probably damaging Het
Filip1l T C 16: 57,390,333 (GRCm39) I307T probably benign Het
Gdap1l1 T A 2: 163,280,574 (GRCm39) S37T probably benign Het
Gm43302 G T 5: 105,438,820 (GRCm39) Q23K probably benign Het
Golga2 T C 2: 32,189,072 (GRCm39) V227A probably damaging Het
Gramd4 A T 15: 85,975,704 (GRCm39) S74C probably damaging Het
Gramd4 G C 15: 85,975,705 (GRCm39) S74T possibly damaging Het
Hsph1 A C 5: 149,541,962 (GRCm39) S755A probably benign Het
Inppl1 A G 7: 101,481,477 (GRCm39) V235A probably damaging Het
Kcnc1 A G 7: 46,047,229 (GRCm39) H43R probably benign Het
Klhl41 T G 2: 69,501,188 (GRCm39) S216R probably benign Het
Kmt2e A G 5: 23,704,293 (GRCm39) E1162G possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Ms4a13 T C 19: 11,161,222 (GRCm39) I106V probably benign Het
Myo1f G A 17: 33,794,819 (GRCm39) D20N probably damaging Het
Ndel1 T C 11: 68,724,239 (GRCm39) T245A possibly damaging Het
Or5al1 A T 2: 85,990,529 (GRCm39) F62I probably damaging Het
P2rx6 C A 16: 17,388,820 (GRCm39) N360K probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Plcl1 A G 1: 55,734,935 (GRCm39) K92R probably benign Het
Prelp C T 1: 133,842,513 (GRCm39) D211N probably benign Het
Rgl1 T C 1: 152,400,475 (GRCm39) Y677C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 G T 13: 38,083,675 (GRCm39) D113Y probably damaging Het
Sf1 T A 19: 6,424,543 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,792,714 (GRCm39) probably null Het
Shprh T A 10: 11,042,289 (GRCm39) D757E probably benign Het
Slc6a1 A G 6: 114,284,737 (GRCm39) K81R probably benign Het
Spata31e4 A G 13: 50,855,946 (GRCm39) K528R probably benign Het
Ttc22 T A 4: 106,480,242 (GRCm39) S165R probably benign Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vwa7 C A 17: 35,238,776 (GRCm39) A288D probably damaging Het
Wdsub1 G A 2: 59,692,975 (GRCm39) T313I probably benign Het
Zyg11a A G 4: 108,046,878 (GRCm39) V532A probably benign Het
Other mutations in Wdpcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Wdpcp APN 11 21,609,995 (GRCm39) missense probably damaging 1.00
IGL01322:Wdpcp APN 11 21,661,949 (GRCm39) missense probably damaging 1.00
IGL01876:Wdpcp APN 11 21,763,383 (GRCm39) missense possibly damaging 0.92
IGL01879:Wdpcp APN 11 21,661,630 (GRCm39) missense probably damaging 0.99
IGL01913:Wdpcp APN 11 21,698,931 (GRCm39) missense probably damaging 1.00
IGL02127:Wdpcp APN 11 21,661,958 (GRCm39) missense possibly damaging 0.71
IGL03326:Wdpcp APN 11 21,835,048 (GRCm39) missense probably benign 0.05
R0040:Wdpcp UTSW 11 21,661,638 (GRCm39) missense probably damaging 1.00
R0040:Wdpcp UTSW 11 21,661,638 (GRCm39) missense probably damaging 1.00
R0142:Wdpcp UTSW 11 21,807,444 (GRCm39) splice site probably null
R2159:Wdpcp UTSW 11 21,807,476 (GRCm39) missense probably benign 0.01
R2163:Wdpcp UTSW 11 21,835,015 (GRCm39) nonsense probably null
R2165:Wdpcp UTSW 11 21,641,884 (GRCm39) missense probably damaging 1.00
R4239:Wdpcp UTSW 11 21,645,271 (GRCm39) missense probably benign 0.35
R4239:Wdpcp UTSW 11 21,645,269 (GRCm39) missense probably damaging 1.00
R4636:Wdpcp UTSW 11 21,661,568 (GRCm39) missense probably benign 0.03
R5558:Wdpcp UTSW 11 21,661,732 (GRCm39) missense probably benign 0.00
R6493:Wdpcp UTSW 11 21,661,631 (GRCm39) missense possibly damaging 0.83
R6762:Wdpcp UTSW 11 21,671,244 (GRCm39) missense probably benign 0.11
R6957:Wdpcp UTSW 11 21,671,154 (GRCm39) missense possibly damaging 0.94
R7380:Wdpcp UTSW 11 21,661,585 (GRCm39) missense possibly damaging 0.52
R7458:Wdpcp UTSW 11 21,698,919 (GRCm39) missense probably damaging 0.97
R7876:Wdpcp UTSW 11 21,661,486 (GRCm39) missense probably benign 0.02
R8351:Wdpcp UTSW 11 21,698,931 (GRCm39) missense probably damaging 1.00
R8503:Wdpcp UTSW 11 21,671,205 (GRCm39) nonsense probably null
R8670:Wdpcp UTSW 11 21,645,196 (GRCm39) missense probably benign 0.00
R8710:Wdpcp UTSW 11 21,610,924 (GRCm39) missense probably benign 0.12
R9072:Wdpcp UTSW 11 21,614,014 (GRCm39) missense probably benign 0.07
R9188:Wdpcp UTSW 11 21,610,025 (GRCm39) missense probably damaging 1.00
R9242:Wdpcp UTSW 11 21,835,040 (GRCm39) missense probably benign
R9332:Wdpcp UTSW 11 21,661,522 (GRCm39) missense probably benign 0.15
R9673:Wdpcp UTSW 11 21,671,285 (GRCm39) missense possibly damaging 0.51
RF021:Wdpcp UTSW 11 21,661,587 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTTCAAGTGCCATCAGCC -3'
(R):5'- TGAGCCTCTGTCTAAGAAGATG -3'

Sequencing Primer
(F):5'- TGCCATCAGCCTTTTATAAATAAAAC -3'
(R):5'- CCTCTGTCTAAGAAGATGGTTCACG -3'
Posted On 2018-07-23