Ntrk2 - SNV Details



 Gene Information 
Gene Name Ntrk2
Old Gene Names for Ntrk2 C030027l06rik , Ai848316 , Tkrb
Gene Description neurotrophic tyrosine kinase, receptor, type 2 [Source:MGI Symbol;Acc:MGI:97384]
MGI phenotype Different lines of homozygous mice show varied abnormalities including innervation and neural defects, rod defects, impaired ovarian folliculogenesis, and reduced postnatal survival. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; endosome membrane; positive regulation of synaptic transmission
glutamatergic; axon terminus; feeding behavior; regulation of neurotransmitter secretion; protein autophosphorylation; brain-derived neurotrophic factor-activated receptor activity; terminal button; Golgi membrane; brain-derived neurotrophic factor binding; negative regulation of anoikis; excitatory synapse; positive regulation of neuron projection development; calcium-mediated signaling using intracellular calcium source; central nervous system neuron development; glutamate secretion; ephrin receptor binding; retinal rod cell development; vasculogenesis; brain-derived neurotrophic factor receptor signaling pathway; mechanoreceptor differentiation; positive regulation of MAPK cascade; transferase activity
transferring phosphorus-containing groups; neurotrophin receptor activity; protein homodimerization activity; integral to plasma membrane; positive regulation of phosphatidylinositol 3-kinase cascade; protein binding; cell surface; neuronal cell body; long-term memory; neuron migration; response to auditory stimulus; peripheral nervous system neuron development; positive regulation of axonogenesis; axon; cytosol; oligodendrocyte differentiation; long-term synaptic potentiation; aging; cerebral cortex development; regulation of metabolic process; dendritic spine; regulation of protein kinase B signaling cascade; protein phosphorylation; presynaptic active zone; regulation of Rac GTPase activity; growth cone; regulation of dendrite development; protein tyrosine kinase activity; ATP binding; neuron differentiation; plasma membrane; dendrite; neurotrophin binding; negative regulation of neuron apoptotic process; regulation of MAPK cascade; learning; transmembrane receptor protein tyrosine kinase activity; positive regulation of cell proliferation; positive regulation of gene expression; postsynaptic density
Homolog in other species NTRK2
Omim http://omim.org/entry/600456
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
HIGH
MEDIAN
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055254
Chromosome 13
Coordinate 58,846,851     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Agt
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.36
A:V0.64
Amino Acid Position 194
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL01928
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000105464:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cysteine-rich flanking region, C-terminal Cys-rich_flank_reg_C IPR000483 ENSMUSP00000105464 Smart 148
195 Description available Search pathways

 Availability Details 
Availability Cryopreserved