Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Wdpcp'

436416

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

043115-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R5558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21521969-21848686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21661732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 335 (A335T)

Ref Sequence

ENSEMBL: ENSMUSP00000020568 (fasta)

Gene Model

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

AlphaFold

Q8C456

Predicted Effect

probably benign
Transcript: ENSMUST00000020568
AA Change: A335T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: A335T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156624

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,192,705 (GRCm39)	K177E	probably damaging	Het
Acvr1	T	C	2: 58,349,029 (GRCm39)	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,630,394 (GRCm39)	V779A	probably benign	Het
Alms1	C	T	6: 85,618,311 (GRCm39)	Q2786*	probably null	Het
Arhgef28	A	C	13: 98,097,968 (GRCm39)	L882R	probably damaging	Het
Cbx2	A	G	11: 118,919,775 (GRCm39)	T447A	probably benign	Het
Ch25h	A	G	19: 34,451,863 (GRCm39)	W222R	probably damaging	Het
Chsy3	T	G	18: 59,309,469 (GRCm39)	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,541,749 (GRCm39)	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,316,063 (GRCm39)	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,622,936 (GRCm39)	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,846,047 (GRCm39)	R359C	probably damaging	Het
Elavl4	C	A	4: 110,063,800 (GRCm39)	G267V	probably benign	Het
Gars1	T	C	6: 55,042,592 (GRCm39)	S442P	probably damaging	Het
Gas6	C	T	8: 13,516,764 (GRCm39)	R578Q	probably null	Het
H4c4	C	A	13: 23,765,779 (GRCm39)	N65K	possibly damaging	Het
Ifitm6	T	C	7: 140,595,985 (GRCm39)	I103V	probably benign	Het
Igsf5	T	A	16: 96,187,731 (GRCm39)	I241N	possibly damaging	Het
Iqce	A	G	5: 140,657,560 (GRCm39)		probably null	Het
Khdc4	A	C	3: 88,600,403 (GRCm39)	H164P	probably damaging	Het
Kif20b	C	A	19: 34,928,949 (GRCm39)	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,662,093 (GRCm39)	N298D	probably benign	Het
Lca5	A	T	9: 83,283,796 (GRCm39)	S246T	probably damaging	Het
Mrps5	G	A	2: 127,444,355 (GRCm39)	G330S	probably damaging	Het
Myh15	C	T	16: 48,889,900 (GRCm39)	R164C	probably benign	Het
Myo19	C	G	11: 84,801,274 (GRCm39)	P940R	probably damaging	Het
Or10j7	T	C	1: 173,011,585 (GRCm39)	R139G	probably benign	Het
Or5b12b	T	C	19: 12,861,751 (GRCm39)	F169L	probably benign	Het
Pcdh10	A	G	3: 45,338,603 (GRCm39)	D920G	probably damaging	Het
Pgm5	A	T	19: 24,801,815 (GRCm39)		probably null	Het
Phactr4	T	C	4: 132,105,766 (GRCm39)	E137G	probably damaging	Het
Pkn1	C	T	8: 84,411,351 (GRCm39)	V239M	probably damaging	Het
Plcz1	T	A	6: 139,985,481 (GRCm39)	D20V	probably damaging	Het
Prkca	A	T	11: 107,872,473 (GRCm39)	I429N	probably damaging	Het
Ptk2	A	T	15: 73,176,294 (GRCm39)	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,280,271 (GRCm39)	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,642,003 (GRCm39)	E932V	probably damaging	Het
Rilp	A	G	11: 75,402,251 (GRCm39)	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,616,025 (GRCm39)	I474T	probably benign	Het
Slc14a2	T	A	18: 78,202,381 (GRCm39)	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,528,903 (GRCm39)	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,577,321 (GRCm39)	V326I	probably benign	Het
Slco1c1	C	T	6: 141,513,222 (GRCm39)	T617I	probably damaging	Het
Sntg1	A	G	1: 8,484,495 (GRCm39)	S442P	possibly damaging	Het
Sys1	G	T	2: 164,306,429 (GRCm39)	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmed5	A	G	5: 108,272,462 (GRCm39)	I212T	probably benign	Het
Tnks	T	C	8: 35,432,819 (GRCm39)	M1V	probably null	Het
Trpa1	T	C	1: 14,968,492 (GRCm39)	H452R	probably damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Ttn	T	A	2: 76,555,395 (GRCm39)	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,530,024 (GRCm39)	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,587,329 (GRCm39)	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,368,402 (GRCm39)	S278C	probably benign	Het
Zc3h18	G	T	8: 123,113,659 (GRCm39)	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp955b	C	T	17: 33,521,161 (GRCm39)	T210I	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
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
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'- TGTTCACTTCGGCACCAAAC -3'
(R):5'- TCGGTGAGTAATCTTCTGCC -3'

Sequencing Primer
(F):5'- TGCTCCGTCAGTGTAGACAAG -3'
(R):5'- AATCTTCTGCCAAGAGCTGG -3'

Posted On

2016-10-24