|Institutional Source||Beutler Lab|
|Gene Name||erb-b2 receptor tyrosine kinase 3|
|Synonyms||Erbb-3, Erbb3r, HER3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1676 (G1)|
|Chromosomal Location||128567523-128589652 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 128583248 bp|
|Amino Acid Change||Histidine to Arginine at position 248 (H248R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080716 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082059]|
|Predicted Effect||probably benign
AA Change: H248R
PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: H248R
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||Strain: 3513098; 1929072; 1928828; 1929598
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 receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erbb3||
(F):5'- CTTTGTTGTGACCCCTCCCAGAAG -3'
(R):5'- TAGTGACCAAGACCATCTGTGCCC -3'
(F):5'- CCATcacacacacacacacac -3'
(R):5'- TGTGCCCCTCAGTGTAACG -3'