Egfr MGI Mouse Gene Detail - MGI:95294 - epidermal growth factor receptor

Symbol

Egfr
Name

epidermal growth factor receptor
Synonyms

9030024J15Rik, avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, Erbb, Errb1, Wa5

Feature Type

protein coding gene
IDs

MGI:95294
NCBI Gene: 13649
Alliance

gene page
Transcription Start Sites

35 TSS

Sequence Map

Chr11:16702203-16868158 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 9.41 cM, cytoband A1-A4
Mapping Data

58 experiments

SNPs within 2kb

4618 from dbSNP Build 142
Strain Annotations

18
RFLP

15

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95294	protein coding gene	Chr11:16700153-16868158 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018052	protein coding gene	Chr11:14133047-14307089 (+)
A/J	MGP_AJ_G0018025	protein coding gene	Chr11:13651067-13817934 (+)
AKR/J	MGP_AKRJ_G0017989	protein coding gene	Chr11:14153588-14317748 (+)
BALB/cJ	MGP_BALBcJ_G0017993	protein coding gene	Chr11:13762458-13937418 (+)
C3H/HeJ	MGP_C3HHeJ_G0017806	protein coding gene	Chr11:14067422-14236517 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018445	protein coding gene	Chr11:14736166-14912795 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016103	protein coding gene	Chr11:12833148-12997977 (+)
CAST/EiJ	MGP_CASTEiJ_G0017368	protein coding gene	Chr11:14057045-14229410 (+)
CBA/J	MGP_CBAJ_G0017781	protein coding gene	Chr11:15550076-15729951 (+)
DBA/2J	MGP_DBA2J_G0017891	protein coding gene	Chr11:13640989-13806810 (+)
FVB/NJ	MGP_FVBNJ_G0017883	protein coding gene	Chr11:13432771-13597890 (+)
LP/J	MGP_LPJ_G0017962	protein coding gene	Chr11:14301039-14469186 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017909	protein coding gene	Chr11:16001758-16171272 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018486	protein coding gene	Chr11:14216978-14392836 (+)
PWK/PhJ	MGP_PWKPhJ_G0017148	protein coding gene	Chr11:13617472-13785201 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016945	protein coding gene	Chr11:13987448-14153247 (+)
WSB/EiJ	MGP_WSBEiJ_G0017422	protein coding gene	Chr11:13918750-14092073 (+)

Human Ortholog

EGFR, epidermal growth factor receptor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EGFR, epidermal growth factor receptor
Synonyms

ERBB, ERBB1, ERRP, HER1, mENA, NISBD2, NNCIS, PIG61
Links

HGNC:3236

NCBI Gene ID: 1956

neXtProt AC: NX_P00533

UniProt: P00533
Chr Location

7p11.2; chr7:55019017-55211628 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: EGFR
Protein SuperFamily

TyrPK_EGF-R
Gene Tree

Egfr

Diseases

2 with Egfr mouse models; 10 with human EGFR associations

Human Disease

Mouse Models

aortic valve disease

IDs

View 2 models

Coronavirus infectious disease

IDs

View 1 model

breast carcinoma

IDs

bronchiolo-alveolar adenocarcinoma

IDs

colorectal cancer

IDs

inflammatory bowel disease

IDs

lung adenocarcinoma

IDs

lung cancer

IDs

lung non-small cell carcinoma

IDs

pancreatic cancer

IDs

prostate cancer

IDs

pulmonary tuberculosis

IDs

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

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

196 phenotypes from 15 alleles in 30 genetic backgrounds
87 phenotypes from multigenic genotypes
6 images
260 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

35
Chemically induced (ENU)

4
Chemically induced (other)

1
Endonuclease-mediated

8
Spontaneous

2
Targeted

18
Transgenic

2
Genomic Mutations

1 involving Egfr
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

87 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.

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All GO Annotations

286
GO References

70

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

1453
Tissues

247
cDNA Data

26
Literature Summary

163

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN egfra

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All Sequences

71
RefSeq

6
UniProt

6
CCDS

CCDS24443.1, CCDS24444.1

Ensembl

ENSMUSG00000020122 (Evidence)
NCBI Gene

13649

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020122	Ensembl Gene Model \| MGI Sequence Detail	165956	C57BL/6J	± kb
transcript	ENSMUST00000020329	Ensembl \| MGI Sequence Detail	10208	Not Applicable
polypeptide	ENSMUSP00000020329	Ensembl \| MGI Sequence Detail	1210	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000006933 epidermal growth factor receptor

(term hierarchy)
EC

2.7.10.1
InterPro Domains

IPR044912 Epidermal growth factor receptor, juxtamembrane domain

IPR049328 Epidermal growth factor receptor-like, transmembrane-juxtamembrane segment

IPR006211 Furin-like cysteine-rich domain

IPR006212 Furin-like repeat

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR032778 Growth factor receptor domain 4

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR000494 Receptor L-domain

IPR036941 Receptor L-domain superfamily

IPR050122 Receptor Tyrosine Kinase

IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain

IPR008266 Tyrosine-protein kinase, active site

IPR020635 Tyrosine-protein kinase, catalytic domain

IPR016245 Tyrosine protein kinase, EGF/ERB/XmrK receptor
GlyGen

Q01279 10 sites, 7 N-linked glycans (7 sites)

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All nucleic 53

Genomic 6

cDNA 31

Primer pair 10

Other 6

Microarray probesets 12

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MGD-MRK-15422, MGD-MRK-15424, MGD-MRK-9322, MGD-MRK-9570, MGI:1890525, MGI:2144221

Summaries

All 777

Developmental Gene Expression 163

Diseases 3

Gene Ontology 70

Phenotypes 260
Earliest

J:13052 Keeler CE, A second rexoid coat character in the house mouse. J Hered. 1935;26(5):189-191
Latest

J:358645 Bano S, et al., Hepatocyte-specific Epidermal Growth Factor Receptor Deletion Promotes Fibrosis but has no Effect on Steatosis in Fast-food Diet Model of Metabolic Dysfunction-associated Steatotic Liver Disease. Cell Mol Gastroenterol Hepatol. 2024;18(4):101380

TSS for Egfr:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr3432	Chr11:16702197-16702202 (+)	-3 bp
Tssr100407	Chr11:16702203-16702215 (+)	6 bp
Tssr100408	Chr11:16702220-16702236 (+)	25 bp
Tssr100409	Chr11:16702245-16702265 (+)	52 bp
Tssr100410	Chr11:16703320-16703333 (+)	1,124 bp
Tssr100411	Chr11:16708911-16708916 (+)	6,711 bp
Tssr100412	Chr11:16709513-16709524 (+)	7,316 bp
Tssr100413	Chr11:16709586-16709610 (+)	7,395 bp
Tssr100414	Chr11:16709613-16709639 (+)	7,423 bp
Tssr100415	Chr11:16728000-16728033 (+)	25,814 bp
Tssr100416	Chr11:16728146-16728148 (+)	25,944 bp
Tssr100417	Chr11:16728600-16728612 (+)	26,403 bp
Tssr100418	Chr11:16728653-16728692 (+)	26,470 bp
Tssr100419	Chr11:16736077-16736086 (+)	33,879 bp
Tssr100420	Chr11:16754413-16754424 (+)	52,216 bp
Tssr100421	Chr11:16755637-16755647 (+)	53,439 bp
Tssr100422	Chr11:16760904-16760915 (+)	58,707 bp
Tssr100423	Chr11:16765403-16765407 (+)	63,202 bp
Tssr100424	Chr11:16772827-16772834 (+)	70,628 bp
Tssr100425	Chr11:16792410-16792421 (+)	90,213 bp
Tssr100426	Chr11:16796324-16796327 (+)	94,123 bp
Tssr100427	Chr11:16796354-16796389 (+)	94,169 bp
Tssr100428	Chr11:16820455-16820463 (+)	118,256 bp
Tssr100429	Chr11:16821017-16821024 (+)	118,818 bp
Tssr100430	Chr11:16821800-16821816 (+)	119,605 bp
Tssr100431	Chr11:16851830-16851835 (+)	149,630 bp
Tssr100432	Chr11:16855341-16855349 (+)	153,142 bp
Tssr100433	Chr11:16862447-16862462 (+)	160,252 bp
Tssr100434	Chr11:16864240-16864250 (+)	162,042 bp
Tssr100435	Chr11:16864597-16864620 (+)	162,406 bp
Tssr100436	Chr11:16864739-16864743 (+)	162,538 bp
Tssr100437	Chr11:16865225-16865300 (+)	163,060 bp
Tssr100438	Chr11:16865356-16865359 (+)	163,155 bp
Tssr100439	Chr11:16866065-16866109 (+)	163,884 bp
Tssr100440	Chr11:16867215-16867235 (+)	165,022 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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