Cplane1 MGI Mouse Gene Detail - MGI:1920942 - ciliogenesis and planar polarity effector 1

Symbol

Cplane1
Name

ciliogenesis and planar polarity effector 1
Synonyms

2410089E03Rik, 4732468D17Rik, b2b012Clo, Hug, Jbts17

Feature Type

protein coding gene
IDs

MGI:1920942
NCBI Gene: 73692
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr15:8198590-8300642 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 3.82 cM, cytoband A2
Mapping Data

2 experiments

SNPs within 2kb

2805 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920942	protein coding gene	Chr15:8198509-8300642 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021705	protein coding gene	Chr15:5211835-5330132 (+)
A/J	MGP_AJ_G0021666	protein coding gene	Chr15:5084160-5195263 (+)
AKR/J	MGP_AKRJ_G0021644	protein coding gene	Chr15:5131312-5250885 (+)
BALB/cJ	MGP_BALBcJ_G0021673	protein coding gene	Chr15:4992315-5113293 (+)
C3H/HeJ	MGP_C3HHeJ_G0021449	protein coding gene	Chr15:5166075-5284624 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022112	protein coding gene	Chr15:5404043-5523998 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019649	protein coding gene	Chr15:4673092-4771002 (+)
CAST/EiJ	MGP_CASTEiJ_G0020965	protein coding gene	Chr15:5155377-5281139 (+)
CBA/J	no annotation
DBA/2J	MGP_DBA2J_G0021542	protein coding gene	Chr15:5004194-5111208 (+)
FVB/NJ	MGP_FVBNJ_G0021520	protein coding gene	Chr15:4924915-5033048 (+)
LP/J	MGP_LPJ_G0021610	protein coding gene	Chr15:5138476-5248635 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021545	protein coding gene	Chr15:5743836-5860079 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022135	protein coding gene	Chr15:5163770-5277071 (+)
PWK/PhJ	MGP_PWKPhJ_G0020708	protein coding gene	Chr15:5019495-5125263 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020546	protein coding gene	Chr15:5054922-5166022 (+)
WSB/EiJ	MGP_WSBEiJ_G0021021	protein coding gene	Chr15:5104676-5224833 (+)

Human Ortholog

CPLANE1, ciliogenesis and planar polarity effector complex subunit 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CPLANE1, ciliogenesis and planar polarity effector complex subunit 1
Synonyms

C5orf42, Hug, JBTS17, OFD6
Links

HGNC:25801

NCBI Gene ID: 65250

neXtProt AC: NX_Q9H799

UniProt: Q9H799
Chr Location

5p13.2; chr5:37075669-37249376 (-) GRCh38

MGI Vertebrate Homology

Cplane1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CPLANE1
Gene Tree

Cplane1

Diseases

1 with Cplane1 mouse models; 2 with human CPLANE1 associations

Human Disease

Mouse Models

Joubert syndrome 17

IDs

View 1 model

Joubert syndrome with orofaciodigital defect

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

49 phenotypes from 2 alleles in 2 genetic backgrounds
64 images
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
Endonuclease-mediated

2
Gene trapped

3
Targeted

1
Transposon induced

1
Genomic Mutations

1 involving Cplane1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

129 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs.

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All GO Annotations

18
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

706
cDNA Data

11

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cplane1

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All Sequences

83
RefSeq

40
UniProt

2
CCDS

CCDS49578.1

Ensembl

ENSMUSG00000039801 (Evidence)
NCBI Gene

73692

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039801	Ensembl Gene Model \| MGI Sequence Detail	102053	C57BL/6J	± kb
transcript	ENSMUST00000110617	Ensembl \| MGI Sequence Detail	10469	Not Applicable
polypeptide	ENSMUSP00000106247	Ensembl \| MGI Sequence Detail	3214	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000060087 ciliogenesis and planar polarity effector 1

(term hierarchy)
InterPro Domains

IPR028236 Ciliogenesis and planar polarity effector 1

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All nucleic 11

cDNA 11

Microarray probesets 9

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MGI:2447821, MGI:5300208, MGI:6154843

Summaries

All 35

Diseases 1

Gene Ontology 5

Phenotypes 12
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cplane1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr130588	Chr15:8198515-8198550 (+)	-57 bp
Tssr130589	Chr15:8198551-8198589 (+)	-20 bp
Tssr130590	Chr15:8254744-8254752 (+)	56,158 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 11/05/2024 MGI 6.24