|Institutional Source||Beutler Lab|
|Gene Name||erb-b2 receptor tyrosine kinase 2|
|Synonyms||c-erbB2, c-neu, HER-2, HER2, Neu, ErbB-2, Neu oncogene|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0388 (G1)|
|Chromosomal Location||98412470-98437716 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 98427351 bp (GRCm38)|
|Amino Acid Change||Arginine to Proline at position 471 (R471P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053897 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058295]|
AA Change: R471P
PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: R471P
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erbb2||
(F):5'- ATTCGGGGACGGATTCTCCATGAG -3'
(R):5'- AGCCATCCATAGGCAAGTGAAGAAC -3'
(F):5'- ACGGATTCTCCATGAGTAAGTG -3'
(R):5'- acgcctttaatcccagcac -3'