Incidental Mutation 'R6022:Dok5'
ID 478980
Institutional Source Beutler Lab
Gene Symbol Dok5
Ensembl Gene ENSMUSG00000027560
Gene Name docking protein 5
Synonyms 2700055C10Rik
MMRRC Submission 043256-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6022 (G1)
Quality Score 152.008
Status Not validated
Chromosome 2
Chromosomal Location 170573727-170721689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170721142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 302 (Y302C)
Ref Sequence ENSEMBL: ENSMUSP00000029075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029075]
AlphaFold Q91ZM9
Predicted Effect probably damaging
Transcript: ENSMUST00000029075
AA Change: Y302C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560
AA Change: Y302C

DomainStartEndE-ValueType
PH 8 114 2.37e-6 SMART
PTBI 130 232 2.36e-36 SMART
IRS 135 232 2.86e-38 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency
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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,240,759 (GRCm39) F874C probably damaging Het
Adam9 T C 8: 25,493,321 (GRCm39) T96A possibly damaging Het
Arhgef26 C T 3: 62,336,360 (GRCm39) T633M probably damaging Het
Atxn2l A G 7: 126,095,607 (GRCm39) probably null Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Caskin1 T A 17: 24,715,709 (GRCm39) F158I probably benign Het
Ces1g T A 8: 94,055,085 (GRCm39) N204I probably damaging Het
Chd1 A G 17: 17,598,035 (GRCm39) I41V probably benign Het
Crybg2 A T 4: 133,801,584 (GRCm39) K915* probably null Het
Dock4 T C 12: 40,798,109 (GRCm39) V911A probably benign Het
Dpysl4 A T 7: 138,666,000 (GRCm39) probably benign Het
Dsc3 A C 18: 20,099,395 (GRCm39) V707G probably damaging Het
Endog A G 2: 30,062,921 (GRCm39) Y187C possibly damaging Het
Fcrl5 A G 3: 87,363,070 (GRCm39) T526A probably benign Het
Gcat T C 15: 78,926,478 (GRCm39) V116A probably damaging Het
Herc1 A G 9: 66,390,967 (GRCm39) D3975G probably damaging Het
Jmy G T 13: 93,590,086 (GRCm39) probably null Het
Kif1b T C 4: 149,282,989 (GRCm39) I1273V probably benign Het
Lrriq1 G T 10: 103,051,395 (GRCm39) N452K possibly damaging Het
Lrrn3 T C 12: 41,503,429 (GRCm39) E296G probably damaging Het
Marco G A 1: 120,416,294 (GRCm39) L208F probably benign Het
Mme T A 3: 63,272,218 (GRCm39) W606R probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Phc3 A G 3: 30,984,174 (GRCm39) S647P probably damaging Het
Prx A G 7: 27,216,998 (GRCm39) K500E probably damaging Het
Ptpn22 T A 3: 103,793,421 (GRCm39) V524E probably benign Het
Ptprj A T 2: 90,301,667 (GRCm39) I155K probably benign Het
Rad51ap2 A G 12: 11,508,523 (GRCm39) E815G probably damaging Het
Rnf150 T C 8: 83,769,358 (GRCm39) V381A probably benign Het
Rnf213 A G 11: 119,376,836 (GRCm39) K5103R probably benign Het
Speer4a2 T G 5: 26,289,677 (GRCm39) E250A probably benign Het
Tecpr1 A T 5: 144,136,009 (GRCm39) W961R possibly damaging Het
Tnn A T 1: 159,937,928 (GRCm39) D932E probably benign Het
Tram2 G A 1: 21,149,361 (GRCm39) probably benign Het
Trbv26 T A 6: 41,204,509 (GRCm39) probably benign Het
Trmt11 A G 10: 30,463,497 (GRCm39) I206T possibly damaging Het
Ttk T C 9: 83,721,375 (GRCm39) Y87H probably damaging Het
Uri1 A T 7: 37,660,902 (GRCm39) probably benign Het
Vmn1r173 A G 7: 23,402,260 (GRCm39) D165G probably benign Het
Xpc A G 6: 91,476,618 (GRCm39) S494P probably damaging Het
Zfp438 T A 18: 5,213,419 (GRCm39) N513I probably damaging Het
Other mutations in Dok5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Dok5 APN 2 170,671,876 (GRCm39) critical splice donor site probably null
IGL03224:Dok5 APN 2 170,674,807 (GRCm39) missense possibly damaging 0.90
R0413:Dok5 UTSW 2 170,671,880 (GRCm39) splice site probably benign
R1522:Dok5 UTSW 2 170,574,052 (GRCm39) missense probably benign 0.13
R1748:Dok5 UTSW 2 170,683,373 (GRCm39) missense probably damaging 1.00
R2151:Dok5 UTSW 2 170,642,816 (GRCm39) missense probably damaging 1.00
R2152:Dok5 UTSW 2 170,642,816 (GRCm39) missense probably damaging 1.00
R2154:Dok5 UTSW 2 170,642,816 (GRCm39) missense probably damaging 1.00
R4797:Dok5 UTSW 2 170,672,042 (GRCm39) nonsense probably null
R6189:Dok5 UTSW 2 170,642,771 (GRCm39) missense probably damaging 0.99
R6403:Dok5 UTSW 2 170,671,820 (GRCm39) missense probably damaging 0.98
R7457:Dok5 UTSW 2 170,712,735 (GRCm39) missense probably benign
R7684:Dok5 UTSW 2 170,683,344 (GRCm39) missense probably damaging 1.00
R7954:Dok5 UTSW 2 170,674,993 (GRCm39) critical splice donor site probably null
R8246:Dok5 UTSW 2 170,642,813 (GRCm39) missense probably benign 0.28
R9286:Dok5 UTSW 2 170,672,099 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TATGTTAATCACGCACTCCCTAG -3'
(R):5'- ATACATATGTTGTTCTGCAGCG -3'

Sequencing Primer
(F):5'- GAGTGACCTTAGGAATACAGTCTCC -3'
(R):5'- ACATATGTTGTTCTGCAGCGTTTCC -3'
Posted On 2017-06-26