Akap2,Palm2Akap2 - SNV Details



 Gene Information 
Gene Name Akap2 , Palm2akap2
Old Gene Names for Akap2 Aa959716 , Ai649048 , B230340m18rik
Gene Description A kinase (PRKA) anchor protein 2 [Source:MGI Symbol;Acc:MGI:1306795],Palm2-Akap2 readthrough transcript [Source:MGI Symbol;Acc:MGI:5141924]
Uniprot Name
CCDS Name
Gene GO
membrane; regulation of cell shape; protein binding
protein binding
Homolog in other species AKAP2,NO_HOMOLOG
Omim http://omim.org/entry/604582,NO_OMIM
Immgen Expression
NO_IMMGEN,LOW
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
MEDIAN(HIGH IN LUNG),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000089945
Chromosome 4
Coordinate 57,854,663     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 45
Allele Frequency
T:R0.49
A:V0.51
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Splice Position 10
Sample ID IGL02696
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved