Incidental Mutation 'R8246:Dok5'
ID 640747
Institutional Source Beutler Lab
Gene Symbol Dok5
Ensembl Gene ENSMUSG00000027560
Gene Name docking protein 5
Synonyms 2700055C10Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8246 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 170731807-170879769 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170800893 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 37 (K37R)
Ref Sequence ENSEMBL: ENSMUSP00000029075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029075]
AlphaFold Q91ZM9
Predicted Effect probably benign
Transcript: ENSMUST00000029075
AA Change: K37R

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560
AA Change: K37R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,446,966 V810A probably benign Het
Alpk3 C A 7: 81,092,776 D780E probably benign Het
Anln A C 9: 22,350,955 S947A probably benign Het
Borcs6 C T 11: 69,060,551 P252S probably benign Het
Ccdc109b C A 3: 129,915,165 V328L probably benign Het
Ccdc42 C A 11: 68,587,296 Q28K probably benign Het
Cp A G 3: 19,975,022 I554M probably damaging Het
Dnm3 T G 1: 162,307,917 D429A probably damaging Het
Dtwd2 A T 18: 49,698,425 Y268N probably benign Het
Eif3a T C 19: 60,779,368 E244G probably damaging Het
Fam149a T C 8: 45,381,618 E48G probably benign Het
Fam160a2 T C 7: 105,389,660 E124G probably damaging Het
Fam186a T A 15: 99,940,547 E2605D unknown Het
Fyn T A 10: 39,529,529 W264R probably damaging Het
Gm10024 T A 10: 77,711,535 S27T unknown Het
Gm156 A G 6: 129,775,376 probably benign Het
Gpr157 C T 4: 150,102,296 L294F possibly damaging Het
Kif6 C T 17: 49,758,514 Q506* probably null Het
Loxhd1 A G 18: 77,363,546 K707R possibly damaging Het
Mdn1 C T 4: 32,657,284 P12S probably benign Het
Mrgprb3 T G 7: 48,643,520 L94F probably benign Het
Mycbp2 G T 14: 103,155,204 P3307Q probably damaging Het
Nol8 T G 13: 49,655,248 probably benign Het
Olfr1308 T C 2: 111,960,138 I312V probably benign Het
Olfr744 A G 14: 50,618,384 Y54C probably benign Het
Pax5 T C 4: 44,570,027 H286R probably benign Het
Rmdn2 T A 17: 79,672,537 C381* probably null Het
Rpusd4 A G 9: 35,272,580 I202V probably benign Het
Shank3 A T 15: 89,533,346 R49W possibly damaging Het
Smurf2 T C 11: 106,831,044 T542A probably benign Het
Sorcs2 G A 5: 36,062,588 R371C probably damaging Het
Sqstm1 T C 11: 50,210,561 H66R probably damaging Het
Stard8 C T X: 99,065,964 S155L probably benign Het
Svep1 A T 4: 58,091,889 V1582D probably damaging Het
Tecrl T C 5: 83,279,309 M331V probably damaging Het
Tinf2 T C 14: 55,679,585 S368G probably damaging Het
Tmem184c A T 8: 77,610,185 I14N probably damaging Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Ulk4 T C 9: 121,156,875 *911W probably null Het
Unc13b T C 4: 43,175,954 F2261L unknown Het
Vps16 G C 2: 130,438,873 G241R probably damaging Het
Ythdc1 C T 5: 86,817,322 T292I possibly damaging Het
Other mutations in Dok5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Dok5 APN 2 170829956 critical splice donor site probably null
IGL03224:Dok5 APN 2 170832887 missense possibly damaging 0.90
R0413:Dok5 UTSW 2 170829960 splice site probably benign
R1522:Dok5 UTSW 2 170732132 missense probably benign 0.13
R1748:Dok5 UTSW 2 170841453 missense probably damaging 1.00
R2151:Dok5 UTSW 2 170800896 missense probably damaging 1.00
R2152:Dok5 UTSW 2 170800896 missense probably damaging 1.00
R2154:Dok5 UTSW 2 170800896 missense probably damaging 1.00
R4797:Dok5 UTSW 2 170830122 nonsense probably null
R6022:Dok5 UTSW 2 170879222 missense probably damaging 1.00
R6189:Dok5 UTSW 2 170800851 missense probably damaging 0.99
R6403:Dok5 UTSW 2 170829900 missense probably damaging 0.98
R7457:Dok5 UTSW 2 170870815 missense probably benign
R7684:Dok5 UTSW 2 170841424 missense probably damaging 1.00
R7954:Dok5 UTSW 2 170833073 critical splice donor site probably null
R9286:Dok5 UTSW 2 170830179 missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- GCGCATGAATATTCCACAGG -3'
(R):5'- GCTGCAAGCACAAAATTCTCG -3'

Sequencing Primer
(F):5'- TAATCCTAGCACTTGGGAGGC -3'
(R):5'- CAGCTTTAAAAACCGAGTATCGAG -3'
Posted On 2020-07-28