Mab21l2 MGI Mouse Gene Detail - MGI:1346022

Symbol

Mab21l2
Name

mab-21-like 2

Feature Type

protein coding gene
IDs

MGI:1346022
NCBI Gene: 23937
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr3:86453357-86455590 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 37.86 cM
Mapping Data

2 experiments

SNPs within 2kb

72 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346022	protein coding gene	Chr3:86452888-86455590 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027355	protein coding gene	Chr3:86601678-86604910 (-)
A/J	MGP_AJ_G0027319	protein coding gene	Chr3:83653822-83656873 (-)
AKR/J	MGP_AKRJ_G0027285	protein coding gene	Chr3:85670864-85673912 (-)
BALB/cJ	MGP_BALBcJ_G0027328	protein coding gene	Chr3:83746726-83749774 (-)
C3H/HeJ	MGP_C3HHeJ_G0027072	protein coding gene	Chr3:85960859-85964822 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027774	protein coding gene	Chr3:89801451-89805449 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025127	protein coding gene	Chr3:79295623-79298672 (-)
CAST/EiJ	MGP_CASTEiJ_G0026519	protein coding gene	Chr3:86183194-86186158 (-)
CBA/J	MGP_CBAJ_G0027047	protein coding gene	Chr3:92808050-92810881 (-)
DBA/2J	MGP_DBA2J_G0027183	protein coding gene	Chr3:83160647-83163736 (-)
FVB/NJ	MGP_FVBNJ_G0027151	protein coding gene	Chr3:81465670-81468707 (-)
LP/J	MGP_LPJ_G0027291	protein coding gene	Chr3:87529812-87532610 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027170	protein coding gene	Chr3:99111315-99114185 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027832	protein coding gene	Chr3:85443466-85446514 (-)
PWK/PhJ	MGP_PWKPhJ_G0026253	protein coding gene	Chr3:82953615-82956477 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026069	protein coding gene	Chr3:84629375-84632427 (-)
WSB/EiJ	MGP_WSBEiJ_G0026597	protein coding gene	Chr3:85826261-85829076 (-)

Human Ortholog

MAB21L2, mab-21 like 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MAB21L2, mab-21 like 2
Synonyms

MCOPS14, MCSKS14
Links

HGNC:6758

NCBI Gene ID: 10586

neXtProt AC: NX_Q9Y586

UniProt: Q9Y586
Chr Location

4q31.3; chr4:150582151-150584693 (+) GRCh38

MGI Vertebrate Homology

Mab21l2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MAB21L2
Gene Tree

Mab21l2

Diseases

2 with human MAB21L2 associations

				Human Disease	Mouse Models
				coloboma IDs coloboma DOID:12270 ICD10CM:Q13.0 MESH:D003103 NCI:C98877 OMIM:120200 OMIM:120300 OMIM:216820 ORDO:194 ORDO:98945 UMLS_CUI:C0009363
				syndromic microphthalmia 14 IDs syndromic microphthalmia 14 DOID:0111802 OMIM:615877 ORDO:424099

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

References

1 with disease annotations

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Phenotype Summary

22 phenotypes from 2 alleles in 2 genetic backgrounds
13 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

6
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Mab21l2
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

20 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in omphalocele and defects in ventral body wall formation resulting in death at mid-gestation. Mutants have impaired development of the retina and lens.

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All GO Annotations

10
GO References

4

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

941
Tissues

171
cDNA Data

43
Literature Summary

18

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mab21l2

ZFIN mab21l2

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All Sequences

36
RefSeq

2
UniProt

1
CCDS

CCDS17447.1

Ensembl

ENSMUSG00000057777 (Evidence)
NCBI Gene

23937

			Length	Strain/Species	Flank
genomic	23937	NCBI Gene Model \| MGI Sequence Detail	2234	C57BL/6J	± kb
transcript	NM_011839	RefSeq \| MGI Sequence Detail	2252	C57BL/6
polypeptide	Q8BPP1	UniProt \| EBI \| MGI Sequence Detail	359	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000010035 protein mab-21-like 2

(term hierarchy)
InterPro Domains

IPR024810 MAB21L/Cyclic GMP-AMP synthase-like receptor

IPR046906 Mab-21-like, HhH/H2TH-like domain

IPR046903 Mab-21-like, nucleotidyltransferase domain

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All nucleic 51

Genomic 1

cDNA 45

Other 5

Microarray probesets 3

Summaries

All 47

Developmental Gene Expression 18

Diseases 1

Gene Ontology 4

Phenotypes 13
Earliest

J:57575 Wong RL, et al., Genomic cloning and chromosomal localization of the mouse Mab21l2 locus. Cytogenet Cell Genet. 1999;86(1):21-4
Latest

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

TSS for Mab21l2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr33905	Chr3:86455914-86455927 (-)	-331 bp
Tssr33904	Chr3:86455889-86455905 (-)	-307 bp
Tssr33903	Chr3:86455834-86455850 (-)	-252 bp
Tssr33902	Chr3:86455784-86455791 (-)	-198 bp
Tssr33901	Chr3:86455744-86455759 (-)	-162 bp
Tssr33900	Chr3:86455639-86455645 (-)	-52 bp
Tssr33899	Chr3:86455625-86455635 (-)	-40 bp
Tssr33898	Chr3:86455575-86455597 (-)	4 bp
Tssr33897	Chr3:86455359-86455388 (-)	216 bp
Tssr33896	Chr3:86454328-86454339 (-)	1,256 bp
Tssr33895	Chr3:86453950-86453962 (-)	1,634 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 12/10/2024 MGI 6.24