Wdpcp MGI Mouse Gene Detail - MGI:2144467 - WD repeat containing planar cell polarity effector

Symbol

Wdpcp
Name

WD repeat containing planar cell polarity effector
Synonyms

AV249152, homoloc-13

Feature Type

protein coding gene
IDs

MGI:2144467
NCBI Gene: 216560
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:21521969-21848686 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 13.90 cM
Mapping Data

2 experiments

SNPs within 2kb

7439 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2144467	protein coding gene	Chr11:21521969-21848989 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018074	protein coding gene	Chr11:19205584-19539570 (+)
A/J	MGP_AJ_G0018047	protein coding gene	Chr11:18498163-18815954 (+)
AKR/J	MGP_AKRJ_G0018011	protein coding gene	Chr11:19165289-19503736 (+)
BALB/cJ	MGP_BALBcJ_G0018015	protein coding gene	Chr11:18633196-18955445 (+)
C3H/HeJ	MGP_C3HHeJ_G0017829	protein coding gene	Chr11:19031432-19375120 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018467	protein coding gene	Chr11:20048225-20402877 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016125	protein coding gene	Chr11:17444434-17778564 (+)
CAST/EiJ	MGP_CASTEiJ_G0017390	protein coding gene	Chr11:19040422-19400572 (+)
CBA/J	MGP_CBAJ_G0017803	protein coding gene	Chr11:20907718-21284612 (+)
DBA/2J	MGP_DBA2J_G0017913	protein coding gene	Chr11:18445823-18770521 (+)
FVB/NJ	MGP_FVBNJ_G0017905	protein coding gene	Chr11:18209303-18536076 (+)
LP/J	MGP_LPJ_G0017984	protein coding gene	Chr11:19362094-19702874 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017931	protein coding gene	Chr11:21341263-21732451 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018508	protein coding gene	Chr11:19260817-19598827 (+)
PWK/PhJ	MGP_PWKPhJ_G0017171	protein coding gene	Chr11:18472943-18796084 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016968	protein coding gene	Chr11:18992335-19347767 (+)
WSB/EiJ	MGP_WSBEiJ_G0017444	protein coding gene	Chr11:18890945-19228553 (+)

Human Ortholog

WDPCP, WD repeat containing planar cell polarity effector

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

WDPCP, WD repeat containing planar cell polarity effector
Synonyms

BBS15, C2orf86, CHDTHP, CPLANE5, FRITZ, FRTZ
Links

HGNC:28027

NCBI Gene ID: 51057

neXtProt AC: NX_O95876

UniProt: O95876
Chr Location

2p15; chr2:63119559-63840826 (-) GRCh38

MGI Vertebrate Homology

Wdpcp stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: WDPCP
Gene Tree

Wdpcp

Diseases

2 with human WDPCP associations

				Human Disease	Mouse Models
				Bardet-Biedl syndrome 15 IDs Bardet-Biedl syndrome 15 DOID:0110137 ICD10CM:Q87.89 OMIM:615992
				congenital heart defects, hamartomas of tongue, and polysyndactyly IDs congenital heart defects, hamartomas of tongue, and polysyndactyly DOID:0111591 MESH:C535849 OMIM:217085 ORDO:1338 UMLS_CUI:C2931046

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

27 phenotypes from 2 alleles in 2 genetic backgrounds
1 phenotype from multigenic genotypes
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

3
Genomic Mutations

1 involving Wdpcp
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + 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.

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All GO Annotations

47
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

833
Tissues

35
cDNA Data

22
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase wdpcp

ZFIN wdpcp

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All Sequences

85
RefSeq

44
UniProt

4
CCDS

CCDS24467.1

Ensembl

ENSMUSG00000020319 (Evidence)
NCBI Gene

216560

			Length	Strain/Species	Flank
genomic	216560	NCBI Gene Model \| MGI Sequence Detail	326718	C57BL/6J	± kb
transcript	NM_145425	RefSeq \| MGI Sequence Detail	2443	ZRU/MplStud
polypeptide	Q8C456	UniProt \| EBI \| MGI Sequence Detail	722	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000030333 WD repeat-containing and planar cell polarity effector protein fritz homolog

(term hierarchy)
PDB

7Q3E
InterPro Domains

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

IPR024511 WD repeat-containing and planar cell polarity effector protein Fritz

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All nucleic 24

cDNA 22

Primer pair 2

Microarray probesets 3

Summaries

All 36

Developmental Gene Expression 5

Gene Ontology 5

Phenotypes 12
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:352395 Langousis G, et al., Structure of the ciliogenesis-associated CPLANE complex. Sci Adv. 2022 Apr 15;8(15):eabn0832

TSS for Wdpcp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100574	Chr11:21522221-21522232 (+)	258 bp
Tssr100575	Chr11:21522273-21522334 (+)	335 bp
Tssr100576	Chr11:21551141-21551144 (+)	29,174 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24