|Institutional Source||Beutler Lab|
|Gene Name||epidermal growth factor receptor|
|Synonyms||avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, Wa5, 9030024J15Rik, Erbb, Errb1|
|Is this an essential gene?||Probably essential (E-score: 0.909)|
|Stock #||R4964 (G1)|
|Chromosomal Location||16752203-16918158 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 16908949 bp|
|Amino Acid Change||Aspartic acid to Valine at position 976 (D976V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020329 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020329]|
|Predicted Effect||probably damaging
AA Change: D976V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D976V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3195|
|Coding Region Coverage||
|Validation Efficiency||98% (100/102)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Egfr||
(F):5'- CTCCCAAAGATTATGTGCCTTC -3'
(R):5'- TGAGAGTCACCACTTATCCCC -3'
(F):5'- CCAAAGATTATGTGCCTTCATTATCC -3'
(R):5'- GAGAGTCACCACTTATCCCCATGTAG -3'