|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cyto-kinesis 2|
|Synonyms||CED-5, MBC, Hch|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1110 (G1)|
|Chromosomal Location||34226815-34783892 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 34256535 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 1354 (F1354I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093193]|
|Predicted Effect||possibly damaging
AA Change: F1354I
PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: F1354I
|Meta Mutation Damage Score||0.452|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. [provided by RefSeq, Oct 2016]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock2||
(F):5'- TGGGCAGTAGCAGTCCTTGGATAG -3'
(R):5'- GCACACACCTCTTGGAGTGTACAAC -3'
(F):5'- TGGATAGCAGAACTCCATTCCTG -3'
(R):5'- ACCCAGCAGGCCAAATTCTA -3'