|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 5|
|Synonyms||lr2, 1110060D06Rik, rlc|
|Is this an essential gene?||Possibly non essential (E-score: 0.373)|
|Stock #||R1109 (G1)|
|Chromosomal Location||67752135-67933442 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 67806478 bp|
|Amino Acid Change||Tyrosine to Histidine at position 819 (Y819H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036674 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039135]|
|Predicted Effect||possibly damaging
AA Change: Y819H
PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: Y819H
|Meta Mutation Damage Score||0.1955|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock5||
(F):5'- GCTGCTTCAGCTTCTGCAAAATGTC -3'
(R):5'- TCATGAAAACCAAGGCTTGGACCTC -3'
(F):5'- CGCGGAATTGAGTACACAC -3'
(R):5'- CTCCATTTTCAGAAGGAAGGC -3'