Adss2 MGI Mouse Gene Detail - MGI:87948 - adenylosuccinate synthase 2

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Adss2 Gene Detail

Symbol

Adss2
Name

adenylosuccinate synthase 2
Synonyms

Adss, AS

Feature Type

protein coding gene
IDs

MGI:87948
NCBI Gene: 11566
Alliance

gene page
Transcription Start Sites

15 TSS
Candidate for QTL

2 QTL

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Sequence Map

Chr1:177590742-177624064 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 82.81 cM
Mapping Data

3 experiments

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SNPs within 2kb

677 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_87948	protein coding gene	Chr1:177590528-177624077 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016850	protein coding gene	Chr1:183965513-184000762 (-)
A/J	MGP_AJ_G0016829	protein coding gene	Chr1:176530389-176571451 (-)
AKR/J	MGP_AKRJ_G0016795	protein coding gene	Chr1:181822228-181858039 (-)
BALB/cJ	MGP_BALBcJ_G0016786	protein coding gene	Chr1:177071859-177106026 (-)
C3H/HeJ	MGP_C3HHeJ_G0016612	protein coding gene	Chr1:182425335-182462519 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017251	protein coding gene	Chr1:189958024-189991514 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014957	protein coding gene	Chr1:167810041-167844253 (-)
CAST/EiJ	MGP_CASTEiJ_G0016193	protein coding gene	Chr1:181818592-181852993 (-)
CBA/J	MGP_CBAJ_G0016585	protein coding gene	Chr1:196899769-196938696 (-)
DBA/2J	MGP_DBA2J_G0016691	protein coding gene	Chr1:175400675-175435414 (-)
FVB/NJ	MGP_FVBNJ_G0016688	protein coding gene	Chr1:173487057-173520779 (-)
LP/J	MGP_LPJ_G0016766	protein coding gene	Chr1:185152425-185187358 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016719	protein coding gene	Chr1:204144759-204179829 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017287	protein coding gene	Chr1:181558743-181593098 (-)
PWK/PhJ	MGP_PWKPhJ_G0015980	protein coding gene	Chr1:174487520-174521329 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015757	protein coding gene	Chr1:180664436-180697793 (-)
WSB/EiJ	MGP_WSBEiJ_G0016255	protein coding gene	Chr1:181767666-181803217 (-)

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Human Ortholog

ADSS2, adenylosuccinate synthase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ADSS2, adenylosuccinate synthase 2
Synonyms

ADEH, ADSS, ADSS 2
Links

HGNC:292

NCBI Gene ID: 159

neXtProt AC: NX_P30520

UniProt: P30520
Chr Location

1q44; chr1:244408494-244452060 (-) GRCh38

MGI Vertebrate Homology

Adss2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ADSS2
Gene Tree

Adss2

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
18 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

21
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

10
Targeted

7
Genomic Mutations

2 involving Adss2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

29
GO References

13

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

804
Tissues

98
cDNA Data

144
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase adss2

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All Sequences

51
RefSeq

7
UniProt

3
CCDS

CCDS15555.1

Ensembl

ENSMUSG00000015961 (Evidence)
NCBI Gene

11566

Representative Sequences				Length	Strain/Species	Flank
	genomic	11566	NCBI Gene Model \| MGI Sequence Detail	33323	C57BL/6J	± kb
	transcript	NM_007422	RefSeq \| MGI Sequence Detail	2544	C57BL/6
	polypeptide	P46664	UniProt \| EBI \| MGI Sequence Detail	456	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003795 adenylosuccinate synthetase isozyme 2

(term hierarchy)
EC

6.3.4.4
InterPro Domains

IPR033128 Adenylosuccinate synthase, active site

IPR018220 Adenylosuccinate synthase, GTP-binding site

IPR001114 Adenylosuccinate synthetase

IPR042109 Adenylosuccinate synthetase, domain 1

IPR042110 Adenylosuccinate synthetase, domain 2

IPR042111 Adenylosuccinate synthetase, domain 3

IPR027529 Adenylosuccinate synthetase isozyme 2, chordates

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

P46664 1 site, 1 O-linked glycan (1 site)

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All nucleic 146

Genomic 1

cDNA 145

Microarray probesets 5

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MGD-MRK-1165, MGI:2138197, MGI:7482285

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Summaries

All 58

Developmental Gene Expression 3

Gene Ontology 13

Phenotypes 18
Earliest

J:306719 Swain JL, et al., Disruption of the purine nucleotide cycle by inhibition of adenylosuccinate lyase produces skeletal muscle dysfunction. J Clin Invest. 1984 Oct;74(4):1422-7
Latest

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

TSS for Adss2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr15461	Chr1:177624282-177624291 (-)	-223 bp
Tssr15460	Chr1:177624259-177624266 (-)	-199 bp
Tssr315	Chr1:177624253-177624256 (-)	-191 bp
Tssr15459	Chr1:177624240-177624243 (-)	-178 bp
Tssr15458	Chr1:177624229-177624239 (-)	-170 bp
Tssr15457	Chr1:177624203-177624214 (-)	-145 bp
Tssr15456	Chr1:177624176-177624185 (-)	-117 bp
Tssr15455	Chr1:177624101-177624112 (-)	-43 bp
Tssr15454	Chr1:177624017-177624080 (-)	15 bp
Tssr15453	Chr1:177623980-177623999 (-)	74 bp
Tssr15452	Chr1:177623070-177623076 (-)	991 bp
Tssr15451	Chr1:177604158-177604173 (-)	19,898 bp
Tssr15450	Chr1:177600974-177600979 (-)	23,087 bp
Tssr15449	Chr1:177591257-177591268 (-)	32,801 bp
Tssr15448	Chr1:177590978-177591006 (-)	33,072 bp

Adss2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Alcw1	Chr1, 80.33 cM	Chr1:170868354-171966357	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 1, several candidate genes were identified for Ap1q at 60 cM andAlcw1 at 95.8 cM. Candidate genes for Ap1q are Akp3 (51.7 cM), Gbx2 (65 cM), and Pam (57.5 cM). Candidate genes for Alcw1 are Adss, 2810484M10Rik, and Mark1.
Ap1q	Chr1, 63.28 cM	Chr1:146908199-167586222	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 1, several candidate genes were identified for Ap1q at 60 cM andAlcw1 at 95.8 cM. Candidate genes for Ap1q are Akp3 (51.7 cM), Gbx2 (65 cM), and Pam (57.5 cM). Candidate genes for Alcw1 are Adss, 2810484M10Rik, and Mark1.

*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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