|Institutional Source||Beutler Lab|
|Gene Name||docking protein 5|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8246 (G1)|
|Chromosomal Location||170731807-170879769 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 170800893 bp (GRCm38)|
|Amino Acid Change||Lysine to Arginine at position 37 (K37R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029075 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029075]|
AA Change: K37R
PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: K37R
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dok5||
(F):5'- GCGCATGAATATTCCACAGG -3'
(R):5'- GCTGCAAGCACAAAATTCTCG -3'
(F):5'- TAATCCTAGCACTTGGGAGGC -3'
(R):5'- CAGCTTTAAAAACCGAGTATCGAG -3'