Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Wdpcp'

235442

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

040168-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21521969-21848686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21641884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 174 (L174R)

Ref Sequence

ENSEMBL: ENSMUSP00000020568 (fasta)

Gene Model

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

AlphaFold

Q8C456

Predicted Effect

probably damaging
Transcript: ENSMUST00000020568
AA Change: L174R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: L174R

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: ENSMUST00000149757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156624

Meta Mutation Damage Score

0.5594

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Bub1	T	C	2: 127,643,201 (GRCm39)	I1048V	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cdh1	T	C	8: 107,390,953 (GRCm39)	C690R	probably damaging	Het
Cfap157	T	G	2: 32,668,175 (GRCm39)		probably null	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Fut9	T	A	4: 25,619,733 (GRCm39)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm39)	*360L	probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,669,379 (GRCm39)	N286S	probably benign	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	probably benign	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
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
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'- CCATATCATCATTTGTCAGGTTGGTG -3'
(R):5'- GTTAGACCTTCACCACAGGC -3'

Sequencing Primer
(F):5'- TTCGGCAGAAGTGTATTAACTTG -3'
(R):5'- CTTCACCACAGGCGAGGTATAAAG -3'

Posted On

2014-10-01