Pmm2 MGI Mouse Gene Detail - MGI:1859214

Symbol

Pmm2
Name

phosphomannomutase 2

Feature Type

protein coding gene
IDs

MGI:1859214
NCBI Gene: 54128
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr16:8455467-8475472 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 4.24 cM
Mapping Data

3 experiments

SNPs within 2kb

587 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1859214	protein coding gene	Chr16:8455467-8480331 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022496	protein coding gene	Chr16:5303400-5325982 (+)
A/J	MGP_AJ_G0022458	protein coding gene	Chr16:4992311-5012137 (+)
AKR/J	MGP_AKRJ_G0022434	protein coding gene	Chr16:5269486-5289312 (+)
BALB/cJ	MGP_BALBcJ_G0022462	protein coding gene	Chr16:5163287-5183141 (+)
C3H/HeJ	MGP_C3HHeJ_G0022229	protein coding gene	Chr16:5306500-5326340 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022911	protein coding gene	Chr16:5452249-5475231 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020432	protein coding gene	Chr16:5191908-5211384 (+)
CAST/EiJ	MGP_CASTEiJ_G0021756	protein coding gene	Chr16:5325555-5346620 (+)
CBA/J	MGP_CBAJ_G0022198	protein coding gene	Chr16:5661947-5681810 (+)
DBA/2J	MGP_DBA2J_G0022329	protein coding gene	Chr16:5039572-5059418 (+)
FVB/NJ	MGP_FVBNJ_G0022305	protein coding gene	Chr16:5020351-5040761 (+)
LP/J	MGP_LPJ_G0022397	protein coding gene	Chr16:5278965-5299858 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022327	protein coding gene	Chr16:5451811-5472800 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022924	protein coding gene	Chr16:5218352-5239247 (+)
PWK/PhJ	MGP_PWKPhJ_G0021496	protein coding gene	Chr16:5210025-5231305 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021326	protein coding gene	Chr16:5273662-5295687 (+)
WSB/EiJ	MGP_WSBEiJ_G0021804	protein coding gene	Chr16:5253582-5274214 (+)

Human Ortholog

PMM2, phosphomannomutase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMM2, phosphomannomutase 2
Synonyms

CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
Links

HGNC:9115

NCBI Gene ID: 5373

neXtProt AC: NX_O15305

UniProt: O15305
Chr Location

16p13.2; chr16:8788823-8862534 (+) GRCh38

MGI Vertebrate Homology

Pmm2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PMM2
Gene Tree

Pmm2

Diseases

1 with Pmm2 mouse models; 2 with human PMM2 associations

Human Disease

Mouse Models

congenital disorder of glycosylation type I

IDs

View 1 model

congenital disorder of glycosylation

IDs

congenital disorder of glycosylation Ia

IDs

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

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

43 phenotypes from 6 alleles in 4 genetic backgrounds
17 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

15
Endonuclease-mediated

2
Gene trapped

1
Targeted

12
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired.

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All GO Annotations

17
GO References

6

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

842
Tissues

134
cDNA Data

100
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 pmm2

ZFIN pmm2

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All Sequences

56
RefSeq

6
UniProt

5
CCDS

CCDS27941.1

Ensembl

ENSMUSG00000022711 (Evidence)
NCBI Gene

54128

			Length	Strain/Species	Flank
genomic	54128	NCBI Gene Model \| MGI Sequence Detail	20006	C57BL/6J	± kb
transcript	NM_016881	RefSeq \| MGI Sequence Detail	1886	C57BL/6
polypeptide	Q9Z2M7	UniProt \| EBI \| MGI Sequence Detail	242	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012908 phosphomannomutase 2

(term hierarchy)
EC

5.4.2.8
InterPro Domains

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR006379 HAD-superfamily hydrolase, subfamily IIB

IPR005002 Phosphomannomutase

IPR043169 Phosphomannomutase, cap domain

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All nucleic 104

Genomic 1

cDNA 102

Other 1

Microarray probesets 6

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MGI:2146459, MGI:2146724

Summaries

All 49

Developmental Gene Expression 5

Diseases 1

Gene Ontology 6

Phenotypes 17
Earliest

J:10119 Siu G, et al., Isolation of the murine intercellular adhesion molecule 1 (ICAM-1) gene. ICAM-1 enhances antigen-specific T cell activation. J Immunol. 1989 Dec 1;143(11):3813-20
Latest

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

TSS for Pmm2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr136999	Chr16:8455576-8455640 (+)	141 bp
Tssr137000	Chr16:8455873-8455893 (+)	416 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