Cttnbp2 - SNV Details



 Gene Information 
Gene Name Cttnbp2
Old Gene Names for Cttnbp2 9130022e09rik , 3010022n24rik , 4732477g22rik , Au040881 , Cortbp2 , Orf4
Gene Description cortactin binding protein 2 [Source:MGI Symbol;Acc:MGI:1353467]
Uniprot Name
CCDS Name
Gene GO
SH3 domain binding; protein binding; synaptic vesicle; brain development
Homolog in other species CTTNBP2
Omim http://omim.org/entry/609772
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000416
Chromosome 6
Coordinate 18,382,749     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gCg
Var Base G
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.62
G:V0.38
Amino Acid Position 1340
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02212
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved