Mpdz MGI Mouse Gene Detail - MGI:1343489 - multiple PDZ domain crumbs cell polarity complex component

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Mpdz Gene Detail

Symbol

Mpdz
Name

multiple PDZ domain crumbs cell polarity complex component
Synonyms

B930003D11Rik, multiple PDZ domain protein, MUPP1

Feature Type

protein coding gene
IDs

MGI:1343489
NCBI Gene: 17475
Alliance

genome feature page
Transcription Start Sites

4 TSS
Candidate for QTL

2 QTL

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Sequence Map

Chr4:81196742-81361052 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 38.00 cM
Mapping Data

10 experiments

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SNPs within 2kb

4354 from dbSNP Build 142
Strain Annotations

19
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1343489	protein coding gene	Chr4:81196736-81361112 (-)
129S1/SvImJ	ENSMUSG00200000543	protein coding gene	Chr4:76128026-76263646 (-)
A/J	ENSMUSG00195005731	protein coding gene	Chr4:76734656-76870260 (-)
AKR/J	ENSMUSG00220007816	protein coding gene	Chr4:76100588-76243360 (-)
BALB/cJ	ENSMUSG00180008189	protein coding gene	Chr4:75694648-75830257 (-)
C3H/HeJ	ENSMUSG00175003963	protein coding gene	Chr4:76601364-76744138 (-)
C57BL/6NJ	ENSMUSG00215002128	protein coding gene	Chr4:76552791-76695573 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026117	protein coding gene	Chr4:74033386-74180599 (-)
CAST/EiJ	ENSTCUG00005000846	protein coding gene	Chr4:76118229-76249872 (-)
CBA/J	ENSMUSG00210001152	protein coding gene	Chr4:76181351-76324126 (-)
DBA/2J	ENSMUSG00185000743	protein coding gene	Chr4:76798313-76933840 (-)
FVB/NJ	ENSMUSG00205001319	protein coding gene	Chr4:75016192-75181802 (-)
JF1/MsJ	ENSUMUG00000027274	protein coding gene	Chr4:77152120-77283755 (-)
LP/J	ENSMUSG00230008627	protein coding gene	Chr4:80214670-80350283 (-)
NOD/ShiLtJ	ENSMUSG00190000850	protein coding gene	Chr4:75631456-75774219 (-)
NZO/HlLtJ	ENSMUSG00225005150	protein coding gene	Chr4:85319133-85454668 (-)
PWK/PhJ	ENSLUMG00010001611	protein coding gene	Chr4:74944235-75080539 (-)
SPRET/EiJ	ENSMSPG00010007497	protein coding gene	Chr4:76544990-76704961 (-)
WSB/EiJ	ENSIUOG00005009457	protein coding gene	Chr4:76013231-76156150 (-)

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Human Ortholog

MPDZ, multiple PDZ domain crumbs cell polarity complex component

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MPDZ, multiple PDZ domain crumbs cell polarity complex component
Synonyms

HYC2, MUPP1
Links

HGNC:7208

NCBI Gene ID: 8777

UniProt: O75970
Chr Location

9p23; chr9:13104620-13279790 (-) GRCh38

MGI Vertebrate Homology

Mpdz stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: MPDZ
Gene Tree

Mpdz

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Diseases

1 with human MPDZ associations

				Human Disease	Mouse Models
				hydrocephalus IDs hydrocephalus DOID:10908 ICD10CM:G91 MESH:D006849 NCI:C3111 OMIM:123155 UMLS_CUI:C0020255

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

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Phenotype Summary

13 phenotypes from 3 alleles in 3 genetic backgrounds
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

12
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

2
Radiation induced

1
Targeted

2
Transgenic

1
Genomic Mutations

3 involving Mpdz
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

81 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls.

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All GO Annotations

42
GO References

16

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

840
Tissues

65
cDNA Data

10
Literature Summary

12

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mpdz

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All Sequences

126
RefSeq

38
UniProt

9
CCDS

CCDS18292.1, CCDS89767.1, CCDS89768.1

Ensembl

ENSMUSG00000028402 (Evidence)
NCBI Gene

17475

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000028402	Ensembl Gene Model \| MGI Sequence Detail	164311	C57BL/6J	± kb
	transcript	ENSMUST00000220807	Ensembl \| MGI Sequence Detail	6295	Not Applicable
	polypeptide	ENSMUSP00000152533	Ensembl \| MGI Sequence Detail	2069	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000010532 multiple PDZ domain protein

(term hierarchy)
PDB

4XH7
InterPro Domains

IPR015132 L27-2

IPR004172 L27 domain

IPR036892 L27 domain superfamily

IPR032078 Multiple PDZ domain protein, unstructured region

IPR001478 PDZ domain

IPR051342 PDZ domain-containing scaffold protein

IPR036034 PDZ superfamily
GlyGen

Q8VBX6 3 sites, 1 N-linked glycan (1 site)

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All nucleic 17

cDNA 14

Primer pair 3

Antibodies 3

Microarray probesets 8

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MGI:2140210

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Summaries

All 93

Developmental Gene Expression 12

Gene Ontology 16

Phenotypes 18
Earliest

J:56256 Simpson EH, et al., Identification, sequence, and mapping of the mouse multiple PDZ domain protein gene, Mpdz. Genomics. 1999 Jul 1;59(1):102-4
Latest

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

TSS for Mpdz:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr42217	Chr4:81360993-81361073 (-)	19 bp
Tssr42216	Chr4:81360980-81360991 (-)	66 bp
Tssr42215	Chr4:81279700-81279737 (-)	81,333 bp
Tssr42214	Chr4:81266959-81266973 (-)	94,086 bp

Mpdz is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Alcw2	Chr4, syntenic	Chr4:75859474-81361052	J:88800	Mpdz, a candidate gene for the alcohol withdrawal QTL Alcw2 on mouse Chromosome 4, was examined in this study. Short term selected lines were generated from a (C57BL/6J x DBA/2J)F2 intercross. Animals were selected for high alcohol withdrawal (HAW) or low alcohol withdrawal (LAW) phenotypes and bred for 4 generations. DBA/2J-derived alleles at Mpdz were enriched in the HAW population whereas C57BL/6J-derived alleles were enriched in the LAW population. This association is significant and exceeds that predicted from genetic drift. The same short term selection strategy was used to generate high pentobarbital withdrawal (HPW) and low pentobarbital withdrawal (LPW) lines. Similarly, DBA/2J-derived alleles at Mpdz were enriched in the HPW population whereasC57BL/6J-derived alleles were enriched in the LPW population. This association is significant and exceeds that predicted from genetic drift.
Alcw2	Chr4, syntenic	Chr4:75859474-81361052	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 4, several candidate genes were identified for Ap3q at 81 cM and Alcw2 at 40 cM. Candidate genes for Ap3q are Clic4, 2610510H01Rik, Park7, and Tnfrsf9 (75.5 cM). Candidate genes for Alcw2 are Mpdz (38.6 cM) and Nfib (38.6 cM).
Ap3q	Chr4, 82.64 cM	Chr4:151654451-151654550	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 4, several candidate genes were identified for Ap3q at 81 cM and Alcw2 at 40 cM. Candidate genes for Ap3q are Clic4, 2610510H01Rik, Park7, and Tnfrsf9 (75.5 cM). Candidate genes for Alcw2 are Mpdz (38.6 cM) and Nfib (38.6 cM).

*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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