Cad MGI Mouse Gene Detail - MGI:1916969 - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Symbol

Cad
Name

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Synonyms

2410008J01Rik

Feature Type

protein coding gene
IDs

MGI:1916969
NCBI Gene: 69719
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr5:31212124-31235823 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 16.95 cM, cytoband B1
Mapping Data

4 experiments

SNPs within 2kb

560 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916969	protein coding gene	Chr5:31211964-31235823 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029407	protein coding gene	Chr5:29024215-29051280 (+)
A/J	MGP_AJ_G0029373	protein coding gene	Chr5:28080069-28104824 (+)
AKR/J	MGP_AKRJ_G0029324	protein coding gene	Chr5:29231354-29255384 (+)
BALB/cJ	MGP_BALBcJ_G0029384	protein coding gene	Chr5:28597472-28622096 (+)
C3H/HeJ	MGP_C3HHeJ_G0029105	protein coding gene	Chr5:29244266-29268256 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029837	protein coding gene	Chr5:30817218-30841818 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027075	protein coding gene	Chr5:25549970-25573008 (+)
CAST/EiJ	MGP_CASTEiJ_G0028515	protein coding gene	Chr5:28329386-28353126 (+)
CBA/J	MGP_CBAJ_G0029073	protein coding gene	Chr5:31391957-31419182 (+)
DBA/2J	MGP_DBA2J_G0029222	protein coding gene	Chr5:28258170-28281930 (+)
FVB/NJ	MGP_FVBNJ_G0029180	protein coding gene	Chr5:27675906-27699954 (+)
LP/J	MGP_LPJ_G0029307	protein coding gene	Chr5:29485247-29510490 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029209	protein coding gene	Chr5:32270250-32295865 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029871	protein coding gene	Chr5:28738587-28762116 (+)
PWK/PhJ	MGP_PWKPhJ_G0028240	protein coding gene	Chr5:27380320-27405322 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028070	protein coding gene	Chr5:28111500-28139546 (+)
WSB/EiJ	MGP_WSBEiJ_G0028596	protein coding gene	Chr5:28803801-28829416 (+)

Human Ortholog

CAD, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CAD, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Synonyms

CDG1Z, DEE50, EIEE50, GATD4
Links

HGNC:1424

NCBI Gene ID: 790

neXtProt AC: NX_P27708

UniProt: P27708
Chr Location

2p23.3; chr2:27217369-27243943 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: CAD
Gene Tree

Cad

Diseases

1 with human CAD associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 50 IDs developmental and epileptic encephalopathy 50 DOID:0080419 OMIM:616457 ORDO:448010

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

References

1 with disease annotations

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
33 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

20
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

7
Radiation induced

2
Spontaneous

2
Targeted

3
Genomic Mutations

5 involving Cad
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

75 strains or lines available

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All GO Annotations

78
GO References

12

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

812
Tissues

102
cDNA Data

232
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cad

ZFIN cad

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All Sequences

78
RefSeq

11
UniProt

10
CCDS

CCDS19171.1, CCDS80245.1, CCDS80246.1

Ensembl

ENSMUSG00000013629 (Evidence)
NCBI Gene

69719

			Length	Strain/Species	Flank
genomic	ENSMUSG00000013629	Ensembl Gene Model \| MGI Sequence Detail	23700	C57BL/6J	± kb
transcript	ENSMUST00000013773	Ensembl \| MGI Sequence Detail	7137	Not Applicable
polypeptide	ENSMUSP00000013773	Ensembl \| MGI Sequence Detail	2225	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000004959 multifunctional protein CAD

(term hierarchy)
EC

2.1.3.2, 3.5.1.2, 3.5.2.3, 6.3.4.16, 6.3.5.5
InterPro Domains

IPR006680 Amidohydrolase-related

IPR002082 Aspartate carbamoyltransferase

IPR006130 Aspartate/ornithine carbamoyltransferase

IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain

IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding

IPR036901 Aspartate/ornithine carbamoyltransferase superfamily

IPR011761 ATP-grasp fold

IPR013815 ATP-grasp fold, subdomain 1

IPR006275 Carbamoyl-phosphate synthase, large subunit

IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain

IPR006274 Carbamoyl-phosphate synthase, small subunit

IPR035686 Carbamoyl-phosphate synthase small subunit, GATase1 domain

IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domain

IPR036480 Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily

IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain

IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain

IPR036897 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily

IPR029062 Class I glutamine amidotransferase-like

IPR002195 Dihydroorotase, conserved site

IPR017926 Glutamine amidotransferase

IPR032466 Metal-dependent hydrolase

IPR011059 Metal-dependent hydrolase, composite domain superfamily

IPR011607 Methylglyoxal synthase-like domain

IPR036914 Methylglyoxal synthase-like domain superfamily

IPR016185 Pre-ATP-grasp domain superfamily
GlyGen

B2RQC6 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 235

Genomic 1

cDNA 232

Primer pair 2

Microarray probesets 7

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MGI:2141042

Summaries

All 71

Developmental Gene Expression 2

Diseases 1

Gene Ontology 12

Phenotypes 33
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

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

TSS for Cad:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45660	Chr5:31212110-31212153 (+)	8 bp
Tssr45661	Chr5:31212165-31212209 (+)	63 bp
Tssr45662	Chr5:31213870-31213886 (+)	1,754 bp
Tssr45663	Chr5:31232148-31232155 (+)	20,028 bp
Tssr45664	Chr5:31232166-31232177 (+)	20,048 bp
Tssr45665	Chr5:31232189-31232227 (+)	20,084 bp
Tssr45666	Chr5:31234348-31234355 (+)	22,228 bp
Tssr45667	Chr5:31234384-31234391 (+)	22,264 bp
Tssr45668	Chr5:31234408-31234419 (+)	22,290 bp
Tssr45669	Chr5:31234425-31234437 (+)	22,307 bp
Tssr45670	Chr5:31234448-31234452 (+)	22,326 bp
Tssr45671	Chr5:31234457-31234472 (+)	22,341 bp
Tssr45672	Chr5:31234521-31234530 (+)	22,402 bp
Tssr45673	Chr5:31234816-31234826 (+)	22,697 bp
Tssr45674	Chr5:31234849-31234854 (+)	22,728 bp
Tssr45675	Chr5:31234943-31234952 (+)	22,824 bp
Tssr45676	Chr5:31235116-31235154 (+)	23,011 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