Prrx1 MGI Mouse Gene Detail - MGI:97712 - paired related homeobox 1

Symbol

Prrx1
Name

paired related homeobox 1
Synonyms

A230024N07Rik, K-2, mHox, mHox, MHox1, Pmx1, Prx1

Feature Type

protein coding gene
IDs

MGI:97712
NCBI Gene: 18933
Alliance

gene page
Transcription Start Sites

23 TSS

Sequence Map

Chr1:163072688-163141279 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 70.53 cM
Mapping Data

10 experiments

SNPs within 2kb

1612 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97712	protein coding gene	Chr1:163072688-163142714 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016670	protein coding gene	Chr1:168639417-168706743 (-)
A/J	MGP_AJ_G0016651	protein coding gene	Chr1:161756980-161824083 (-)
AKR/J	MGP_AKRJ_G0016617	protein coding gene	Chr1:166674576-166745358 (-)
BALB/cJ	MGP_BALBcJ_G0016612	protein coding gene	Chr1:162260541-162327754 (-)
C3H/HeJ	MGP_C3HHeJ_G0016436	protein coding gene	Chr1:166849768-166917566 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017073	protein coding gene	Chr1:174294278-174363526 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014782	protein coding gene	Chr1:153772934-153840427 (-)
CAST/EiJ	MGP_CASTEiJ_G0016016	protein coding gene	Chr1:166507523-166575698 (-)
CBA/J	MGP_CBAJ_G0016411	protein coding gene	Chr1:180517418-180586586 (-)
DBA/2J	MGP_DBA2J_G0016517	protein coding gene	Chr1:160672110-160738891 (-)
FVB/NJ	MGP_FVBNJ_G0016515	protein coding gene	Chr1:159110236-159177767 (-)
LP/J	MGP_LPJ_G0016588	protein coding gene	Chr1:169723600-169790313 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016540	protein coding gene	Chr1:188023902-188093563 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017109	protein coding gene	Chr1:166483307-166551301 (-)
PWK/PhJ	MGP_PWKPhJ_G0015802	protein coding gene	Chr1:159865253-159931969 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015589	protein coding gene	Chr1:165385912-165454600 (-)
WSB/EiJ	MGP_WSBEiJ_G0016078	protein coding gene	Chr1:166651826-166723398 (-)

Human Ortholog

PRRX1, paired related homeobox 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PRRX1, paired related homeobox 1
Synonyms

AGOTC, PHOX1, PMX1, PRX-1, PRX1
Links

HGNC:9142

NCBI Gene ID: 5396

neXtProt AC: NX_P54821

UniProt: P54821
Chr Location

1q24.2; chr1:170662728-170739421 (+) GRCh38

MGI Vertebrate Homology

Prrx1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PRRX1
Gene Tree

Prrx1

Diseases

1 with human PRRX1 associations

				Human Disease	Mouse Models
				agnathia-otocephaly complex IDs agnathia-otocephaly complex DOID:0060341 ICD10CM:Q18.2 MESH:C562503 OMIM:202650 ORDO:990

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

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Phenotype Summary

69 phenotypes from 4 alleles in 5 genetic backgrounds
92 phenotypes from multigenic genotypes
22 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

15
Chemically induced (other)

2
Endonuclease-mediated

5
Gene trapped

2
Targeted

6
Genomic Mutations

2 involving Prrx1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality.

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All GO Annotations

45
GO References

17

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

1552
Tissues

514
cDNA Data

111
Literature Summary

90

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PRRX1

Xenbase prrx1

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All Sequences

68
RefSeq

8
UniProt

6
CCDS

CCDS15427.1, CCDS15428.1, CCDS56651.1

Ensembl

ENSMUSG00000026586 (Evidence)
NCBI Gene

18933

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026586	Ensembl Gene Model \| MGI Sequence Detail	68592	C57BL/6J	± kb
transcript	ENSMUST00000027878	Ensembl \| MGI Sequence Detail	4952	Not Applicable
polypeptide	ENSMUSP00000027878	Ensembl \| MGI Sequence Detail	245	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000013316 paired mesoderm homeobox protein 1

(term hierarchy)
InterPro Domains

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR009057 Homeobox-like domain superfamily

IPR003654 OAR domain

IPR043378 Paired mesoderm homeobox protein 1/2
GlyGen

P63013 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 142

Genomic 6

cDNA 115

Primer pair 9

Other 12

Microarray probesets 9

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MGD-MRK-13532, MGI:2138130, MGI:2138219, MGI:2138338, MGI:2441785

Summaries

All 156

Developmental Gene Expression 90

Gene Ontology 17

Phenotypes 22
Earliest

J:3255 Kern MJ, et al., A novel murine homeobox gene isolated by a tissue specific PCR cloning strategy. Nucleic Acids Res. 1992 Oct 11;20(19):5189-95
Latest

J:354194 Oikonomakos I, et al., In vitro differentiation of mouse pluripotent stem cells into corticosteroid-producing adrenocortical cells. Stem Cell Reports. 2024 Sep 10;19(9):1289-1303

TSS for Prrx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr14715	Chr1:163142007-163142033 (-)	-741 bp
Tssr14714	Chr1:163141682-163141692 (-)	-408 bp
Tssr14713	Chr1:163141416-163141430 (-)	-144 bp
Tssr263	Chr1:163141278-163141281 (-)	-1 bp
Tssr14712	Chr1:163141262-163141265 (-)	15 bp
Tssr14711	Chr1:163141230-163141246 (-)	41 bp
Tssr14710	Chr1:163141091-163141102 (-)	182 bp
Tssr14709	Chr1:163141076-163141087 (-)	197 bp
Tssr14708	Chr1:163141029-163141063 (-)	233 bp
Tssr14707	Chr1:163140817-163140840 (-)	450 bp
Tssr14706	Chr1:163140710-163140721 (-)	563 bp
Tssr14705	Chr1:163140635-163140645 (-)	639 bp
Tssr262	Chr1:163140587-163140592 (-)	689 bp
Tssr14704	Chr1:163140574-163140575 (-)	704 bp
Tssr14703	Chr1:163140518-163140522 (-)	759 bp
Tssr14702	Chr1:163140276-163140301 (-)	990 bp
Tssr14701	Chr1:163140164-163140214 (-)	1,090 bp
Tssr14700	Chr1:163140139-163140154 (-)	1,132 bp
Tssr14699	Chr1:163140090-163140112 (-)	1,178 bp
Tssr14698	Chr1:163139989-163139992 (-)	1,288 bp
Tssr14697	Chr1:163132086-163132089 (-)	9,191 bp
Tssr14696	Chr1:163116891-163116907 (-)	24,380 bp
Tssr14695	Chr1:163116783-163116804 (-)	24,485 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)
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