Col1a2 MGI Mouse Gene Detail - MGI:88468 - collagen, type I, alpha 2

Symbol

Col1a2
Name

collagen, type I, alpha 2
Synonyms

Col1a-2, Cola-2, Cola2

Feature Type

protein coding gene
IDs

MGI:88468
NCBI Gene: 12843
Alliance

genome feature page
Transcription Start Sites

41 TSS
Regulated by

Rr1254 (1 regulatory region)

Sequence Map

Chr6:4505618-4541543 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 1.81 cM
Mapping Data

21 experiments

SNPs within 2kb

770 from dbSNP Build 142
Strain Annotations

19
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88468	protein coding gene	Chr6:4504814-4541544 (+)
129S1/SvImJ	ENSMUSG00200001329	protein coding gene	Chr6:1577809-1614550 (+)
A/J	ENSMUSG00195001934	protein coding gene	Chr6:1459679-1495753 (+)
AKR/J	ENSMUSG00220020490	protein coding gene	Chr6:1365825-1401890 (+)
BALB/cJ	ENSMUSG00180001357	protein coding gene	Chr6:1595290-1631350 (+)
C3H/HeJ	ENSMUSG00175006807	protein coding gene	Chr6:1423842-1459904 (+)
C57BL/6NJ	ENSMUSG00215011489	protein coding gene	Chr6:1556056-1592103 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028075	protein coding gene	Chr6:983823-1020458 (+)
CAST/EiJ	ENSTCUG00005025474	protein coding gene	Chr6:1450623-1487015 (+)
CBA/J	ENSMUSG00210021227	protein coding gene	Chr6:1360932-1396996 (+)
DBA/2J	ENSMUSG00185024266	protein coding gene	Chr6:1555720-1591784 (+)
FVB/NJ	ENSMUSG00205012152	protein coding gene	Chr6:1551033-1587096 (+)
JF1/MsJ	ENSUMUG00000007622	protein coding gene	Chr6:1564838-1600979 (+)
LP/J	ENSMUSG00230014613	protein coding gene	Chr6:2555391-2591446 (+)
NOD/ShiLtJ	ENSMUSG00190015241	protein coding gene	Chr6:1280861-1316934 (+)
NZO/HlLtJ	ENSMUSG00225018091	protein coding gene	Chr6:4385677-4422390 (+)
PWK/PhJ	ENSLUMG00010022872	protein coding gene	Chr6:1355002-1391118 (+)
SPRET/EiJ	ENSMSPG00010002386	protein coding gene	Chr6:1237309-1273559 (+)
WSB/EiJ	ENSIUOG00005004100	protein coding gene	Chr6:1536845-1572871 (+)

Human Ortholog

COL1A2, collagen type I alpha 2 chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL1A2, collagen type I alpha 2 chain
Synonyms

EDSARTH2, EDSCV, OI4
Links

HGNC:2198

NCBI Gene ID: 1278

UniProt: P08123
Chr Location

7q21.3; chr7:94394820-94431227 (+) GRCh38

MGI Vertebrate Homology

Col1a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COL1A2
Gene Tree

Col1a2

Diseases

2 with Col1a2 mouse models; 10 with human COL1A2 associations

Human Disease

Mouse Models

osteogenesis imperfecta

IDs

View 5 models

osteogenesis imperfecta type 3

IDs

View 2 models

Ehlers-Danlos syndrome

IDs

Ehlers-Danlos syndrome arthrochalasia type 2

IDs

Ehlers-Danlos syndrome cardiac valvular type

IDs

heart valve disease

IDs

intracranial aneurysm

IDs

osteogenesis imperfecta type 2

IDs

osteogenesis imperfecta type 4

IDs

osteoporosis

IDs

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

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

less

Phenotype Summary

54 phenotypes from 4 alleles in 10 genetic backgrounds
2 images
105 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

22
Chemically induced (ENU)

1
Endonuclease-mediated

13
Gene trapped

1
Spontaneous

1
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

125 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery.

less

All GO Annotations

56
GO References

23

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.

less

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

1197
Tissues

280
cDNA Data

1268
Literature Summary

229

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA COL1A2

Xenbase col1a2

ZFIN col1a2

less

All Sequences

76
RefSeq

2
UniProt

7
CCDS

CCDS39420.1

Ensembl

ENSMUSG00000029661 (Evidence)
NCBI Gene

12843

			Length	Strain/Species	Flank
genomic	12843	NCBI Gene Model \| MGI Sequence Detail	35926	C57BL/6J	± kb
transcript	NM_007743	RefSeq \| MGI Sequence Detail	5222	ZRU/MplStud
polypeptide	Q01149	UniProt \| EBI \| MGI Sequence Detail	1372	Not Applicable

less

UniProt

7 Sequences
Protein Ontology

PR:000003265 collagen alpha-2(I) chain

(term hierarchy)
InterPro Domains

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR000885 Fibrillar collagen, C-terminal
GlyGen

Q01149 6 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

less

All nucleic 1301

Genomic 5

cDNA 1276

Primer pair 13

Other 7

Antibodies 30

Microarray probesets 5

less

MGD-MRK-13027, MGD-MRK-2060, MGD-MRK-2088, MGD-MRK-2090, MGI:2141374, MGI:2141395

Summaries

All 465

Developmental Gene Expression 229

Diseases 3

Gene Ontology 23

Phenotypes 105
Earliest

J:7086 Shupp Byrne DE, et al., Assignment of the genes for mouse type I procollagen to chromosome 16 using mouse fibroblast-Chinese hamster somatic cell hybrids. Somatic Cell Genet. 1983 May;9(3):313-31
Latest

J:389316 Sbierski-Kind J, et al., Type 2 lymphocytes restrict type 3 lymphocytes during liver fibrosis and colocalize in fibroblast niches. Sci Adv. 2026 Mar 13;12(11):eaea6805

Col1a2 expression regulated by:

Feature	Feature Type	Location	Reference
Rr1254, regulatory region 1254	enhancer	Chr6:4553540-4555066	J:333416

TSS for Col1a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr54717	Chr6:4505219-4505260 (+)	-378 bp
Tssr54718	Chr6:4505695-4505709 (+)	84 bp
Tssr54719	Chr6:4508571-4508592 (+)	2,964 bp
Tssr54720	Chr6:4510754-4510771 (+)	5,145 bp
Tssr54721	Chr6:4516391-4516413 (+)	10,784 bp
Tssr54722	Chr6:4521387-4521423 (+)	15,787 bp
Tssr54723	Chr6:4528371-4528385 (+)	22,760 bp
Tssr54724	Chr6:4530952-4530966 (+)	25,341 bp
Tssr54725	Chr6:4533737-4533768 (+)	28,135 bp
Tssr54726	Chr6:4537773-4537798 (+)	32,168 bp
Tssr54727	Chr6:4537845-4537879 (+)	32,244 bp
Tssr54728	Chr6:4537944-4537956 (+)	32,332 bp
Tssr1769	Chr6:4537971-4537980 (+)	32,358 bp
Tssr54729	Chr6:4537990-4538010 (+)	32,382 bp
Tssr54730	Chr6:4538616-4538645 (+)	33,013 bp
Tssr1770	Chr6:4538655-4538668 (+)	33,044 bp
Tssr54731	Chr6:4538671-4538690 (+)	33,063 bp
Tssr54732	Chr6:4538691-4538777 (+)	33,116 bp
Tssr54733	Chr6:4539467-4539474 (+)	33,853 bp
Tssr54734	Chr6:4539478-4539491 (+)	33,867 bp
Tssr54735	Chr6:4539492-4539502 (+)	33,879 bp
Tssr54736	Chr6:4539516-4539528 (+)	33,904 bp
Tssr54737	Chr6:4539538-4539545 (+)	33,924 bp
Tssr54738	Chr6:4539576-4539588 (+)	33,964 bp
Tssr54739	Chr6:4539591-4539600 (+)	33,978 bp
Tssr54740	Chr6:4539655-4539677 (+)	34,048 bp
Tssr54741	Chr6:4540006-4540016 (+)	34,393 bp
Tssr54742	Chr6:4540528-4540542 (+)	34,917 bp
Tssr54743	Chr6:4540543-4540573 (+)	34,940 bp
Tssr54744	Chr6:4540574-4540585 (+)	34,962 bp
Tssr54745	Chr6:4540586-4540591 (+)	34,971 bp
Tssr54746	Chr6:4540599-4540620 (+)	34,992 bp
Tssr54747	Chr6:4540630-4540671 (+)	35,033 bp
Tssr54748	Chr6:4540674-4540679 (+)	35,059 bp
Tssr54749	Chr6:4540843-4540852 (+)	35,230 bp
Tssr54750	Chr6:4540856-4540861 (+)	35,241 bp
Tssr54751	Chr6:4540864-4540875 (+)	35,252 bp
Tssr54752	Chr6:4540907-4540922 (+)	35,297 bp
Tssr54753	Chr6:4540929-4540946 (+)	35,320 bp
Tssr54754	Chr6:4541038-4541055 (+)	35,429 bp
Tssr54755	Chr6:4541437-4541448 (+)	35,825 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 09/08/2026 MGI 6.24