Rrm2 MGI Mouse Gene Detail - MGI:98181 - ribonucleotide reductase M2

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Rrm2 Gene Detail

Symbol

Rrm2
Name

ribonucleotide reductase M2
Synonyms

R2

Feature Type

protein coding gene
IDs

MGI:98181
NCBI Gene: 20135
Alliance

genome feature page
Transcription Start Sites

7 TSS
Candidate for QTL

2 QTL

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Sequence Map

Chr12:24758253-24764145 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 8.50 cM
Mapping Data

22 experiments

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SNPs within 2kb

319 from dbSNP Build 142
Strain Annotations

19
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_98181	protein coding gene	Chr12:24758240-24764145 (+)
129S1/SvImJ	ENSMUSG00200022990	protein coding gene	Chr12:16507514-16513422 (+)
A/J	ENSMUSG00195017591	protein coding gene	Chr12:19233162-19239056 (+)
AKR/J	ENSMUSG00220026768	protein coding gene	Chr12:17182986-17188894 (+)
BALB/cJ	ENSMUSG00180008798	protein coding gene	Chr12:18175814-18181708 (+)
C3H/HeJ	ENSMUSG00175021414	protein coding gene	Chr12:21232728-21238636 (+)
C57BL/6NJ	ENSMUSG00215004807	protein coding gene	Chr12:17653415-17659320 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017648	protein coding gene	Chr12:21259337-21264846 (+)
CAST/EiJ	ENSTCUG00005005392	protein coding gene	Chr12:18038049-18043953 (+)
CBA/J	ENSMUSG00210007331	protein coding gene	Chr12:17718946-17724854 (+)
DBA/2J	ENSMUSG00185003531	protein coding gene	Chr12:19749483-19755395 (+)
FVB/NJ	ENSMUSG00205001363	protein coding gene	Chr12:17818419-17824328 (+)
JF1/MsJ	ENSUMUG00000004938	protein coding gene	Chr12:23961598-23967525 (+)
LP/J	ENSMUSG00230006071	protein coding gene	Chr12:26716167-26722075 (+)
NOD/ShiLtJ	ENSMUSG00190012279	protein coding gene	Chr12:16682810-16688704 (+)
NZO/HlLtJ	ENSMUSG00225033954	protein coding gene	Chr12:28899271-28905179 (+)
PWK/PhJ	ENSLUMG00010004068	protein coding gene	Chr12:18234849-18240873 (+)
SPRET/EiJ	ENSMSPG00010002402	protein coding gene	Chr12:18494719-18500601 (+)
WSB/EiJ	ENSIUOG00005001563	protein coding gene	Chr12:17377983-17383895 (+)

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Human Ortholog

RRM2, ribonucleotide reductase regulatory subunit M2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RRM2, ribonucleotide reductase regulatory subunit M2
Synonyms

C2orf48, R2, RR2, RR2M
Links

HGNC:10452

NCBI Gene ID: 6241

UniProt: P31350, Q96LS8
Chr Location

2p25.1; chr2:10120698-10211725 (+) GRCh38

MGI Vertebrate Homology

Rrm2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RRM2
Gene Tree

Rrm2

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Diseases

1 with human RRM2 associations

				Human Disease	Mouse Models
				pancreatic cancer IDs pancreatic cancer DOID:1793 DOID:14356 DOID:1797 DOID:3588 DOID:9859 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MESH:D010190 NCI:C194089 NCI:C194090 NCI:C194091 NCI:C3305 ORDO:1333 ORDO:217074 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463

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

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
1 phenotype from multigenic genotypes
15 phenotype references

Phenotype Overview

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

6
Endonuclease-mediated

1
Gene trapped

1
Targeted

3
Transgenic

1
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

69
GO References

21

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

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

889
Tissues

121
cDNA Data

22
Literature Summary

15

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rrm2, rrm2.2

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All Sequences

61
RefSeq

2
UniProt

4
CCDS

CCDS25844.1

Ensembl

ENSMUSG00000020649 (Evidence)
NCBI Gene

20135

Representative Sequences				Length	Strain/Species	Flank
	genomic	20135	NCBI Gene Model \| MGI Sequence Detail	5893	C57BL/6J	± kb
	transcript	NM_009104	RefSeq \| MGI Sequence Detail	2199	ZRU/MplStud
	polypeptide	P11157	UniProt \| EBI \| MGI Sequence Detail	390	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014306 ribonucleoside-diphosphate reductase subunit M2

(term hierarchy)
PDB

1AFT, 1H0N, 1H0O, 1W68, 1W69, 1XSM
EC

1.17.4.1
InterPro Domains

IPR009078 Ferritin-like superfamily

IPR012348 Ribonucleotide reductase-like

IPR033909 Ribonucleotide reductase small subunit

IPR030475 Ribonucleotide reductase small subunit, acitve site

IPR000358 Ribonucleotide reductase small subunit family

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All nucleic 28

Genomic 3

cDNA 23

Other 2

Microarray probesets 6

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MGD-MRK-14210, MGI:2145142

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Summaries

All 92

Developmental Gene Expression 15

Gene Ontology 21

Phenotypes 15
Earliest

J:8537 Thelander L, et al., Isolation and characterization of expressible cDNA clones encoding the M1 and M2 subunits of mouse ribonucleotide reductase. Mol Cell Biol. 1986 Oct;6(10):3433-42
Latest

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

TSS for Rrm2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112961	Chr12:24757810-24757823 (+)	-436 bp
Tssr112962	Chr12:24758273-24758291 (+)	29 bp
Tssr112963	Chr12:24758551-24758564 (+)	305 bp
Tssr112964	Chr12:24758724-24758770 (+)	494 bp
Tssr112965	Chr12:24758983-24759003 (+)	740 bp
Tssr112966	Chr12:24763691-24763698 (+)	5,442 bp
Tssr112967	Chr12:24763728-24763734 (+)	5,478 bp

Rrm2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Ath6	Chr12, syntenic	Chr12:15758613-15758756	J:109430	It is believed that the enhanced diabetes susceptibility of C57BLKS/J-Lepr animals (compared to C57BL/6J-Lepr animals) is conferred by contribution of DBA/2J-derived DNA in the genome. It is estimated that 70% of the C57BLKS/J genome is of C57BL/6J origin, 20% is of DBA/2J origin, and 9% contributed by an unknown donor strain. Extensive SNP analysis using 15,300 SNPs at an average spacing of 167,000 bp on the autosomes and 330,000 bp on the X chromosome mapped blocks of C57BLKS/J genome derived from DBA/2J. In addition, expression analysis of genes in these blocks identified potential diabetes susceptibility candidate genes. Previously identified QTL Ath6 at 3 cM on mouse Chromosome 12 mapped to one of these DBA/2J-derived blocks from 10.4 Mb to 19.5 Mb. Over 430 genes are found in this interval. Genes exhibiting significant expression differences between C57BL/6J and DBA/2J and correlating with diabetes-related traits were screened. Rrm2 (8 cM; 19.15 Mb; LOD=13.92), Dock4 (16.5 cM; 35.35 Mb; LOD=8.75), and Cfl2 (36.5 cM; 50.275 Mb; LOD=10.33) were identified as Ath6 candidate genes meeting the above criteria.
Fl1sa	Chr12, 13.69 cM		J:240255	The SMXA-5 mouse is an animal model of high-fat diet-induced fatty liver. The major QTL for fatty liver, Fl1sa on chromosome 12, was previously identified in a SM/J SMXA-5 intercross. The SMXA-5 genome consists of the SM/J and A/J genomes, and the A/J allele of Fl1sa is the fatty liver-susceptibility allele. The existence of the responsible genes for fatty liver within Fl1sa was confirmed in A/J-Chr 12 consomic mice. [J:124974]. The aim of the current study was to identify candidate genes for Fl1sa, and to investigate whether the identified genes affect the lipid metabolism. To identify candidate genes for Fl1sa, DNA microarray analysis was performed using the livers of A/J-Chr 12 and A/J mice that were fed a high-fat diet. The mRNA levels of three genes (Iah1, Rrm2, Prkd1) in the chromosomal region of Fl1sa were significantly different between the strains. Iah1 mRNA levels in the liver, kidney, and lung were significantly higher in A/J-Chr 12 mice than in A/J mice. The hepatic Iah1 mRNA level in A/J-Chr 12 mice was 3.2-fold higher than that in A/J mice. A stable cell line expressing the mouse Iah1 protein in mouse hepatoma Hepa1-6 cells was constructed. Overexpression of Iah1 in Hepa1-6 cells suppressed the mRNA levels of Cd36 and Dgat2, genes which play important roles in triglyceride synthesis and lipid metabolism.

*cM position of peak correlated region/marker

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)
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