Pms1 MGI Mouse Gene Detail - MGI:1202302 - PMS1 homolog 1, mismatch repair system component

Symbol

Pms1
Name

PMS1 homolog 1, mismatch repair system component
Synonyms

MGC:36491

Feature Type

protein coding gene
IDs

MGI:1202302
NCBI Gene: 227099
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr1:53228346-53336177 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 26.99 cM
Mapping Data

1 experiment

SNPs within 2kb

3356 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202302	protein coding gene	Chr1:53225794-53336190 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016016	protein coding gene	Chr1:52720138-52840595 (-)
A/J	MGP_AJ_G0015998	protein coding gene	Chr1:50949308-51059711 (-)
AKR/J	MGP_AKRJ_G0015954	protein coding gene	Chr1:52050980-52169360 (-)
BALB/cJ	MGP_BALBcJ_G0015955	protein coding gene	Chr1:50774943-50877291 (-)
C3H/HeJ	MGP_C3HHeJ_G0015787	protein coding gene	Chr1:52425320-52547674 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016406	protein coding gene	Chr1:54915147-55018129 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014118	protein coding gene	Chr1:40839190-40943592 (+)
CAST/EiJ	MGP_CASTEiJ_G0015368	protein coding gene	Chr1:51932137-52036067 (-)
CBA/J	MGP_CBAJ_G0015758	protein coding gene	Chr1:56395698-56525646 (-)
DBA/2J	MGP_DBA2J_G0015859	protein coding gene	Chr1:50214673-50326368 (-)
FVB/NJ	MGP_FVBNJ_G0015861	protein coding gene	Chr1:49680105-49783417 (-)
LP/J	MGP_LPJ_G0015930	protein coding gene	Chr1:53148405-53263290 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015881	protein coding gene	Chr1:59476405-59595934 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016454	protein coding gene	Chr1:52157462-52276388 (-)
PWK/PhJ	MGP_PWKPhJ_G0015154	protein coding gene	Chr1:50054586-50164097 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0014934	protein coding gene	Chr1:51824590-51944557 (-)
WSB/EiJ	MGP_WSBEiJ_G0015431	protein coding gene	Chr1:51979559-52087452 (-)

Human Ortholog

PMS1, PMS1 homolog 1, mismatch repair system component

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMS1, PMS1 homolog 1, mismatch repair system component
Synonyms

HNPCC3, hPMS1, MLH2, PMSL1
Links

HGNC:9121

NCBI Gene ID: 5378

neXtProt AC: NX_P54277

UniProt: P54277
Chr Location

2q32.2; chr2:189784085-189877629 (+) GRCh38

MGI Vertebrate Homology

Pms1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PMS1
Gene Tree

Pms1

Diseases

4 with human PMS1 associations

				Human Disease	Mouse Models
				dermatomyositis IDs dermatomyositis DOID:10223 ICD10CM:M33 ICD9CM:710.3 MESH:D003882 NCI:C26744 UMLS_CUI:C0011633
				Lynch syndrome IDs Lynch syndrome DOID:3883 DOID:0050586 DOID:3040 MESH:D003123 NCI:C8494 OMIM:PS120435 ORDO:144 UMLS_CUI:C0009405 UMLS_CUI:C4552100
				pancreatic ductal carcinoma IDs pancreatic ductal carcinoma DOID:3587 DOID:10023 ICD10CM:C25.3 ICD9CM:157.3 MESH:D021441 UMLS_CUI:C0153461 UMLS_CUI:C0887833
				polymyositis IDs polymyositis DOID:0080745 MESH:D017285

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
18 phenotype references

All Mutations and Alleles

22
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

13
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Pms1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 strains or lines available

Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.

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All GO Annotations

6
GO References

3

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

844
Tissues

89
cDNA Data

25
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PMS1

Xenbase pms1

ZFIN pms1

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All Sequences

66
RefSeq

20
UniProt

7
CCDS

CCDS14951.1

Ensembl

ENSMUSG00000026098 (Evidence)
NCBI Gene

227099

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026098	Ensembl Gene Model \| MGI Sequence Detail	107832	C57BL/6J	± kb
transcript	ENSMUST00000027267	Ensembl \| MGI Sequence Detail	3054	Not Applicable
polypeptide	ENSMUSP00000027267	Ensembl \| MGI Sequence Detail	917	Not Applicable

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UniProt

7 Sequences
InterPro Domains

IPR014762 DNA mismatch repair, conserved site

IPR002099 DNA mismatch repair protein MutL/Mlh/PMS

IPR038973 DNA mismatch repair protein MutL/Mlh/Pms-like

IPR013507 DNA mismatch repair protein, S5 domain 2-like

IPR009071 High mobility group box domain

IPR036910 High mobility group box domain superfamily

IPR036890 Histidine kinase/HSP90-like ATPase superfamily

IPR020568 Ribosomal protein uS5 domain 2-type superfamily

IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup

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All nucleic 29

Genomic 1

cDNA 27

Primer pair 1

Microarray probesets 2

Summaries

All 46

Developmental Gene Expression 6

Gene Ontology 3

Phenotypes 18
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Pms1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11647	Chr1:53336160-53336182 (-)	6 bp
Tssr11646	Chr1:53336117-53336156 (-)	40 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