Incidental Mutation 'R1580:Dok2'
ID 171367
Institutional Source Beutler Lab
Gene Symbol Dok2
Ensembl Gene ENSMUSG00000022102
Gene Name docking protein 2
Synonyms Frip, Frip, DokR
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 71003476-71015935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71014397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 195 (D195G)
Ref Sequence ENSEMBL: ENSMUSP00000022698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022698]
AlphaFold O70469
Predicted Effect probably benign
Transcript: ENSMUST00000022698
AA Change: D195G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022698
Gene: ENSMUSG00000022102
AA Change: D195G

DomainStartEndE-ValueType
PH 8 119 2.32e-9 SMART
PTBI 150 249 3.65e-42 SMART
IRS 153 249 5.18e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171864
Meta Mutation Damage Score 0.1874 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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 constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal granulocyte physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Dok2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Dok2 APN 14 71,015,301 (GRCm39) missense possibly damaging 0.89
R1631:Dok2 UTSW 14 71,014,393 (GRCm39) missense probably damaging 1.00
R4783:Dok2 UTSW 14 71,015,314 (GRCm39) missense probably benign 0.27
R4784:Dok2 UTSW 14 71,015,314 (GRCm39) missense probably benign 0.27
R4860:Dok2 UTSW 14 71,014,956 (GRCm39) missense probably damaging 1.00
R4860:Dok2 UTSW 14 71,014,956 (GRCm39) missense probably damaging 1.00
R6339:Dok2 UTSW 14 71,013,158 (GRCm39) missense probably benign 0.00
R6939:Dok2 UTSW 14 71,013,045 (GRCm39) missense probably benign 0.38
R7304:Dok2 UTSW 14 71,013,468 (GRCm39) missense probably benign
R8046:Dok2 UTSW 14 71,015,482 (GRCm39) missense probably damaging 1.00
R8559:Dok2 UTSW 14 71,014,968 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCCACTGTTTCCTGAAGCTG -3'
(R):5'- CCACATGGAAAAGTGCTGACCCTG -3'

Sequencing Primer
(F):5'- GTTTCCTGAAGCTGCCTCTC -3'
(R):5'- cttcaactctgtctcctgcc -3'
Posted On 2014-04-13