Erbb3 - SNV Details



 Human Rare Diseases 
Lethal congenital contracture syndrome type 2

 Gene Information 
Gene Name Erbb3
Old Gene Names for Erbb3 Erbb3r , C76256 , Erbb-3
Gene Description v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) [Source:MGI Symbol;Acc:MGI:95411]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
growth factor binding; endocardial cushion development; protein kinase activity; peripheral nervous system development; positive regulation of protein tyrosine kinase activity; postsynaptic membrane; membrane; lateral plasma membrane; integral to membrane; protein tyrosine kinase activator activity; apical plasma membrane; signal transduction; odontogenesis; axonogenesis; phosphatidylinositol 3-kinase cascade; negative regulation of secretion; transferase activity
transferring phosphorus-containing groups; receptor signaling protein tyrosine kinase activity; protein binding; transmembrane receptor protein tyrosine kinase signaling pathway; Schwann cell differentiation; cranial nerve development; neuron apoptotic process; nucleus; positive regulation of glucose import; regulation of cell proliferation; mammary gland involution; response to drug; response to wounding; skeletal muscle tissue development; protein phosphorylation; negative regulation of cell adhesion; protein tyrosine kinase activity; ATP binding; negative regulation of neuron apoptotic process; negative regulation of signal transduction; basolateral plasma membrane; transmembrane receptor protein tyrosine kinase activity; circadian rhythm; extracellular space; cellular response to insulin stimulus; protein heterodimerization activity; tongue development
Homolog in other species ERBB3
Omim http://omim.org/entry/190151
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000018166
Chromosome 10
Coordinate 128,571,010     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 54
Allele Frequency
A:R0.39
T:V0.61
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02190
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability