Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Wdpcp'

700818

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

068894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21521969-21848686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21614014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000020568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020568] [ENSMUST00000131135]

AlphaFold

Q8C456

Predicted Effect

probably benign
Transcript: ENSMUST00000020568
AA Change: T60A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: T60A

Domain	Start	End	E-Value	Type
Pfam:DUF3312	48	591	4.4e-278	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131135
AA Change: T60A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120122
Gene: ENSMUSG00000020319
AA Change: T60A

Domain	Start	End	E-Value	Type
Pfam:DUF3312	48	97	1.1e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,240,834 (GRCm39)	E899A	possibly damaging	Het
Best2	T	A	8: 85,737,418 (GRCm39)	I230F	probably damaging	Het
C2cd2	T	C	16: 97,676,403 (GRCm39)	E448G	probably damaging	Het
C2cd3	T	G	7: 100,040,291 (GRCm39)	S287A	probably benign	Het
Camta2	G	A	11: 70,567,234 (GRCm39)	P677S	probably benign	Het
Cand2	C	T	6: 115,769,490 (GRCm39)	R767C	probably damaging	Het
Celsr3	G	A	9: 108,704,293 (GRCm39)	E259K	probably benign	Het
Cep250	C	G	2: 155,834,035 (GRCm39)	Q1987E	probably benign	Het
Chn1	T	C	2: 73,443,430 (GRCm39)	D440G	probably benign	Het
Cmbl	A	T	15: 31,585,449 (GRCm39)	D111V	possibly damaging	Het
Col5a3	T	A	9: 20,682,453 (GRCm39)	I1664F	unknown	Het
Cp	T	C	3: 20,033,158 (GRCm39)	S662P	possibly damaging	Het
Cpne5	G	A	17: 29,430,677 (GRCm39)	R78C	probably damaging	Het
Cst5	A	G	2: 149,249,261 (GRCm39)	T104A	probably benign	Het
Cyp11b2	A	G	15: 74,725,662 (GRCm39)	F195S	possibly damaging	Het
Dcaf17	T	C	2: 70,920,136 (GRCm39)	Y475H	probably benign	Het
Edem2	G	C	2: 155,571,212 (GRCm39)	L16V	unknown	Het
Eeig1	A	G	2: 32,455,674 (GRCm39)	S267G	probably benign	Het
Ext2	A	G	2: 93,644,144 (GRCm39)	W46R	probably benign	Het
Gal3st3	T	A	19: 5,352,605 (GRCm39)	S11T	probably benign	Het
Garin5b	A	T	7: 4,762,253 (GRCm39)	H265Q		Het
Gfi1	T	A	5: 107,865,725 (GRCm39)	I451F	possibly damaging	Het
Gfpt2	T	C	11: 49,714,185 (GRCm39)	L314P	probably damaging	Het
Gm3250	A	T	10: 77,618,127 (GRCm39)	C84S	unknown	Het
Hmcn1	A	T	1: 150,565,320 (GRCm39)	V2269E	probably benign	Het
Ighv1-55	T	C	12: 115,172,013 (GRCm39)	H18R	probably benign	Het
Iqgap3	G	A	3: 87,998,883 (GRCm39)	G328E	probably benign	Het
Klf6	G	T	13: 5,917,233 (GRCm39)	C303F	probably benign	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Ktn1	T	G	14: 47,941,694 (GRCm39)	V822G	probably benign	Het
Lbhd2	G	T	12: 111,375,040 (GRCm39)	G21W	probably damaging	Het
Lrp1b	G	A	2: 40,615,457 (GRCm39)	R3649*	probably null	Het
Map2	C	A	1: 66,453,312 (GRCm39)	T734N	probably damaging	Het
Mas1	A	G	17: 13,060,839 (GRCm39)	F195L	possibly damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Morc3	T	C	16: 93,667,482 (GRCm39)	V620A	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Nucb2	T	A	7: 116,125,631 (GRCm39)	I159N	probably damaging	Het
Olfm5	A	G	7: 103,802,984 (GRCm39)	L493P	probably benign	Het
Or1e1	T	G	11: 73,244,797 (GRCm39)	F73V	probably damaging	Het
Or2ag15	A	T	7: 106,340,759 (GRCm39)	C127*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdhb22	T	A	18: 37,651,813 (GRCm39)	C94S	probably damaging	Het
Pcdhga5	A	G	18: 37,829,537 (GRCm39)	I662V	probably benign	Het
Plcb2	G	A	2: 118,547,878 (GRCm39)	T472M	possibly damaging	Het
Plcb4	A	G	2: 135,849,795 (GRCm39)	E1142G	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Polr2l	T	C	7: 141,053,285 (GRCm39)	Y43C	probably damaging	Het
Prkcb	T	A	7: 122,127,771 (GRCm39)	N298K	probably benign	Het
Ptar1	T	A	19: 23,695,414 (GRCm39)	C294S	probably benign	Het
Ptprq	T	C	10: 107,401,736 (GRCm39)	I1919V		Het
Slc25a18	C	T	6: 120,769,022 (GRCm39)	R180C	probably benign	Het
Slc27a3	A	C	3: 90,295,768 (GRCm39)	S285R	probably damaging	Het
Smg1	C	T	7: 117,783,032 (GRCm39)	V1092I	unknown	Het
Spata19	T	G	9: 27,309,024 (GRCm39)	I54R	possibly damaging	Het
St6galnac5	T	C	3: 152,551,956 (GRCm39)	T204A	probably benign	Het
Tdpoz8	T	A	3: 92,981,341 (GRCm39)	C46S	probably benign	Het
Trpc3	T	C	3: 36,694,831 (GRCm39)	I708V	probably benign	Het
Ttn	T	C	2: 76,775,183 (GRCm39)	E1999G	unknown	Het
Ube3b	C	T	5: 114,542,607 (GRCm39)	T488M	probably damaging	Het
Vmn1r235	A	T	17: 21,482,271 (GRCm39)	I199F	probably benign	Het
Vsig8	A	T	1: 172,388,340 (GRCm39)	N215Y	possibly damaging	Het
Wapl	A	G	14: 34,399,417 (GRCm39)	K162R	possibly damaging	Het
Wdr26	A	T	1: 181,010,351 (GRCm39)	I566N	probably damaging	Het
Wdr46	C	T	17: 34,163,555 (GRCm39)	T371M	probably benign	Het
Zdbf2	T	C	1: 63,344,923 (GRCm39)	S1101P	possibly damaging	Het

Other mutations in Wdpcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6678:Wdpcp	UTSW	11	21,671,105 (GRCm39)	missense	probably benign
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
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'- CAGTCTTGTTGGTTGTCATCACAG -3'
(R):5'- AGTGTGTGGCAAGCTCTCTC -3'

Sequencing Primer
(F):5'- AATCCTGTTTCTGTAACAAAGCC -3'
(R):5'- TGTGGCAAGCTCTCTCTAGACAAAAG -3'

Posted On

2022-02-07