Primpol MGI Mouse Gene Detail - MGI:3603756 - primase and polymerase (DNA-directed)

Symbol

Primpol
Name

primase and polymerase (DNA-directed)
Synonyms

Ccdc111

Feature Type

protein coding gene
IDs

MGI:3603756
NCBI Gene: 408022
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr8:47028629-47070247 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 26.39 cM
Mapping Data

1 experiment

SNPs within 2kb

1256 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3603756	protein coding gene	Chr8:47028614-47070282 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0033590	protein coding gene	Chr8:45679622-45724953 (-)
A/J	MGP_AJ_G0033572	protein coding gene	Chr8:43929732-43977997 (-)
AKR/J	MGP_AKRJ_G0033497	protein coding gene	Chr8:45214566-45257274 (-)
BALB/cJ	MGP_BALBcJ_G0033569	protein coding gene	Chr8:44099469-44141442 (-)
C3H/HeJ	MGP_C3HHeJ_G0033278	protein coding gene	Chr8:45742741-45784252 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034085	protein coding gene	Chr8:47413871-47457762 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031034	protein coding gene	Chr8:40167179-40210008 (-)
CAST/EiJ	MGP_CASTEiJ_G0032604	protein coding gene	Chr8:45174894-45223952 (-)
CBA/J	MGP_CBAJ_G0033257	protein coding gene	Chr8:49302474-49345456 (-)
DBA/2J	MGP_DBA2J_G0033410	protein coding gene	Chr8:43724236-43767587 (-)
FVB/NJ	MGP_FVBNJ_G0033351	protein coding gene	Chr8:43200014-43245665 (-)
LP/J	MGP_LPJ_G0033498	protein coding gene	Chr8:45698728-45740619 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033396	protein coding gene	Chr8:49398636-49442027 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034103	protein coding gene	Chr8:45368236-45409718 (-)
PWK/PhJ	MGP_PWKPhJ_G0032312	protein coding gene	Chr8:43248083-43295133 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032148	protein coding gene	Chr8:44533110-44578785 (-)
WSB/EiJ	MGP_WSBEiJ_G0032720	protein coding gene	Chr8:45630183-45675271 (-)

Human Ortholog

PRIMPOL, primase and DNA directed polymerase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PRIMPOL, primase and DNA directed polymerase
Synonyms

CCDC111, MYP22, Primpol1
Links

HGNC:26575

NCBI Gene ID: 201973

neXtProt AC: NX_Q96LW4

UniProt: Q96LW4
Chr Location

4q35.1; chr4:184649667-184694963 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PRIMPOL
Gene Tree

Primpol

Diseases

1 with human PRIMPOL associations

				Human Disease	Mouse Models
				myopia IDs myopia DOID:11830 ICD10CM:H52.1 ICD9CM:367.1 MESH:D009216 NCI:C102533 OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946 UMLS_CUI:C0027092

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

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Phenotype Summary

7 phenotypes from 4 alleles in 4 genetic backgrounds
18 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

17
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

4
Targeted

8
Genomic Mutations

1 involving Primpol
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells.

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All GO Annotations

41
GO References

7

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

734
Tissues

23
cDNA Data

5
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase primpol

ZFIN primpol

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All Sequences

57
RefSeq

14
UniProt

5
CCDS

CCDS40334.1

Ensembl

ENSMUSG00000038225 (Evidence)
NCBI Gene

408022

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038225	Ensembl Gene Model \| MGI Sequence Detail	41619	C57BL/6J	± kb
transcript	ENSMUST00000211400	Ensembl \| MGI Sequence Detail	3797	Not Applicable
polypeptide	ENSMUSP00000147574	Ensembl \| MGI Sequence Detail	537	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000031579 DNA-directed primase/polymerase protein

(term hierarchy)
EC

2.7.7.102, 2.7.7.7
InterPro Domains

IPR044917 DNA-directed primase/polymerase protein

IPR002755 DNA primase, small subunit

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All nucleic 7

cDNA 7

Microarray probesets 2

Summaries

All 39

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 18
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

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

TSS for Primpol:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81210	Chr8:47070202-47070260 (-)	16 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 11/19/2024 MGI 6.24