Dock2 - SNV Details



 Gene Information 
Gene Name Dock2
Old Gene Names for Dock2 Ai662014 , Aw122239
Gene Description dedicator of cyto-kinesis 2 [Source:MGI Symbol;Acc:MGI:2149010]
MGI phenotype Homozygous mutants are defective in the migration of T and B lympohcytes in response to chemokines, and thus display immune defects such as lymphocytopenia, atrophy of lymphoid follicles and loss of marginal-zone B cells.
Uniprot Name
CCDS Name
Gene GO
chemotaxis; cytoskeleton organization; endomembrane system; cytoplasm; macropinocytosis; positive regulation of Rac protein signal transduction; Rac guanyl-nucleotide exchange factor activity; negative thymic T cell selection; alpha-beta T cell proliferation; protein binding; binding; alpha-beta T cell activation; nucleus; heme binding; cytoskeleton; membrane raft polarization; establishment of T cell polarity; GTP binding; Rac GTPase activator activity; T cell proliferation; positive thymic T cell selection; immunological synapse formation; plasma membrane; positive regulation of Rac GTPase activity; T cell activation; T cell receptor binding; positive regulation of phagocytosis; electron carrier activity; GTPase binding; myeloid dendritic cell activation involved in immune response
Homolog in other species DOCK2
Omim http://omim.org/entry/603122
Immgen Expression
HIGH
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020143
Chromosome 11
Coordinate 34,254,355     (Assembly: GRCm38)    
Ref Base C
Codon Change Gat/Aat
Var Base T
Zygosity Heterozygous
Read Depth 40
Allele Frequency
C:R0.50
T:V0.50
Amino Acid Position 1396
Amino Acid Change D->N (Aspartic acid -> Asparagine)
Sample ID IGL02081
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved