Incidental Mutation 'R4948:Dock3'
ID 383589
Institutional Source Beutler Lab
Gene Symbol Dock3
Ensembl Gene ENSMUSG00000039716
Gene Name dedicator of cyto-kinesis 3
Synonyms Moca, PBP
MMRRC Submission 042545-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R4948 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106770024-107109108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106868354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 643 (D643E)
Ref Sequence ENSEMBL: ENSMUSP00000047652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044532]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044532
AA Change: D643E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: D643E

DomainStartEndE-ValueType
SH3 9 66 3.85e-9 SMART
Pfam:DOCK_N 69 412 1.4e-120 PFAM
Pfam:DOCK-C2 417 608 7.7e-56 PFAM
low complexity region 854 867 N/A INTRINSIC
low complexity region 892 916 N/A INTRINSIC
Pfam:DHR-2 1121 1628 9e-133 PFAM
low complexity region 1679 1690 N/A INTRINSIC
low complexity region 1693 1704 N/A INTRINSIC
low complexity region 1730 1754 N/A INTRINSIC
low complexity region 1880 1902 N/A INTRINSIC
low complexity region 1963 1977 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 94% (103/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,154 (GRCm39) probably null Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Alas1 A T 9: 106,124,077 (GRCm39) L27* probably null Het
Aldh1a7 A G 19: 20,704,374 (GRCm39) V40A possibly damaging Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
B3gnt5 A C 16: 19,587,894 (GRCm39) M38L probably benign Het
Brd8 A G 18: 34,747,585 (GRCm39) V92A probably damaging Het
Btla A T 16: 45,063,091 (GRCm39) E151D probably benign Het
Cd79b T A 11: 106,203,687 (GRCm39) T67S probably benign Het
Cep192 A G 18: 67,949,875 (GRCm39) R320G probably benign Het
Chad A C 11: 94,456,528 (GRCm39) D202A probably damaging Het
Chil6 A G 3: 106,295,988 (GRCm39) probably benign Het
Cpz T C 5: 35,674,748 (GRCm39) E167G possibly damaging Het
Crisp2 T G 17: 41,076,159 (GRCm39) H225P probably damaging Het
Cyp2c23 T C 19: 44,010,138 (GRCm39) Y69C possibly damaging Het
Dcp1a T A 14: 30,201,724 (GRCm39) L49H probably damaging Het
Dnah6 T A 6: 73,030,672 (GRCm39) H3380L probably benign Het
Dnai3 T A 3: 145,788,820 (GRCm39) K254* probably null Het
Dnm2 A G 9: 21,415,829 (GRCm39) D721G possibly damaging Het
Dnpep G T 1: 75,293,404 (GRCm39) T15K probably benign Het
Ear6 C T 14: 52,091,573 (GRCm39) T40I possibly damaging Het
Fancm A G 12: 65,137,748 (GRCm39) D313G probably damaging Het
Fbxw16 T A 9: 109,267,415 (GRCm39) E272V probably damaging Het
Frmd4b T A 6: 97,283,691 (GRCm39) E393D probably benign Het
Fryl T A 5: 73,246,473 (GRCm39) M1100L probably benign Het
Gjd3 T C 11: 102,691,247 (GRCm39) H252R probably damaging Het
Gm10518 T C 1: 179,631,477 (GRCm39) probably benign Het
Gna14 A G 19: 16,580,656 (GRCm39) M165V probably benign Het
Hells C A 19: 38,923,966 (GRCm39) Q72K probably damaging Het
Herc1 A G 9: 66,392,184 (GRCm39) I4031V probably benign Het
Hspa2 C T 12: 76,452,761 (GRCm39) A485V probably damaging Het
Ighv1-54 T A 12: 115,157,438 (GRCm39) I70F probably benign Het
Il20rb A T 9: 100,343,592 (GRCm39) probably benign Het
Irag1 A G 7: 110,487,236 (GRCm39) V498A probably damaging Het
Krt1 C A 15: 101,754,376 (GRCm39) V625L unknown Het
Lamc3 T C 2: 31,830,748 (GRCm39) I1495T probably benign Het
Larp6 A G 9: 60,645,063 (GRCm39) E401G possibly damaging Het
Ldha A T 7: 46,496,805 (GRCm39) H19L probably benign Het
Lrba A G 3: 86,192,335 (GRCm39) N83S probably damaging Het
Lrp4 G T 2: 91,316,231 (GRCm39) R783L probably benign Het
Lrrk2 T G 15: 91,687,592 (GRCm39) I2227S probably benign Het
Lvrn T C 18: 47,013,803 (GRCm39) L495P probably damaging Het
Macf1 T C 4: 123,391,548 (GRCm39) N1077S probably damaging Het
Mboat1 A G 13: 30,425,213 (GRCm39) T425A probably damaging Het
Mcam A G 9: 44,047,863 (GRCm39) E36G probably damaging Het
Meis1 T A 11: 18,966,308 (GRCm39) T22S probably benign Het
Micu1 A G 10: 59,699,076 (GRCm39) K451R possibly damaging Het
Nat8 A T 6: 85,807,505 (GRCm39) D209E probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nmral1 G A 16: 4,534,274 (GRCm39) R56* probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or5b99 A T 19: 12,977,195 (GRCm39) T282S probably benign Het
Or5g25 T C 2: 85,477,916 (GRCm39) I250V probably benign Het
Or5h24 G A 16: 58,919,340 (GRCm39) T5I probably damaging Het
Palm3 A T 8: 84,753,708 (GRCm39) R132* probably null Het
Pax2 A G 19: 44,804,479 (GRCm39) Y272C probably damaging Het
Phc2 G A 4: 128,616,908 (GRCm39) A394T probably benign Het
Phf2 C A 13: 48,961,198 (GRCm39) G831C unknown Het
Pik3c2b G A 1: 133,027,453 (GRCm39) probably null Het
Plin2 T A 4: 86,580,228 (GRCm39) I178F probably benign Het
Pramel32 A T 4: 88,547,185 (GRCm39) L162H probably damaging Het
Prdm14 T A 1: 13,192,855 (GRCm39) I295F probably damaging Het
Psmd5 C T 2: 34,760,795 (GRCm39) R47H probably benign Het
Ptchd3 T A 11: 121,733,342 (GRCm39) I744K probably damaging Het
Ptrh1 T A 2: 32,666,557 (GRCm39) probably benign Het
Rab6a A G 7: 100,277,627 (GRCm39) D49G probably damaging Het
Radil A T 5: 142,470,994 (GRCm39) D1062E probably benign Het
Robo2 A G 16: 74,149,726 (GRCm39) V34A possibly damaging Het
Sall3 G A 18: 81,014,626 (GRCm39) P1029S probably benign Het
Sec14l3 A G 11: 4,018,101 (GRCm39) D127G possibly damaging Het
Sel1l2 A G 2: 140,086,086 (GRCm39) Y502H probably damaging Het
Serpina1f A G 12: 103,656,010 (GRCm39) V406A probably damaging Het
Sf3b3 T C 8: 111,540,301 (GRCm39) D1040G probably damaging Het
Sgcd A G 11: 46,870,262 (GRCm39) I233T possibly damaging Het
Slc15a3 A G 19: 10,820,410 (GRCm39) Q9R probably benign Het
Slc25a46 A G 18: 31,716,336 (GRCm39) F389L probably damaging Het
Slc26a2 G T 18: 61,331,330 (GRCm39) C700* probably null Het
Slc4a7 A G 14: 14,771,283 (GRCm38) Y671C possibly damaging Het
Slc5a10 A T 11: 61,610,708 (GRCm39) I22N probably damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slc6a12 A G 6: 121,332,281 (GRCm39) D205G probably benign Het
Tas2r115 G A 6: 132,714,124 (GRCm39) H276Y probably damaging Het
Tdpoz4 T A 3: 93,704,318 (GRCm39) I205N probably damaging Het
Tfeb C T 17: 48,096,904 (GRCm39) T33I probably benign Het
Tgm3 A G 2: 129,890,240 (GRCm39) T668A probably benign Het
Tnpo3 A G 6: 29,582,259 (GRCm39) V201A probably benign Het
Tpcn1 T A 5: 120,694,596 (GRCm39) M158L probably benign Het
Trim47 A C 11: 115,996,918 (GRCm39) L612R probably damaging Het
Trmt10c A T 16: 55,854,438 (GRCm39) L399* probably null Het
Trpm2 A T 10: 77,753,626 (GRCm39) S1293T probably benign Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Tubgcp5 A G 7: 55,455,871 (GRCm39) I300V probably benign Het
Uty T A Y: 1,136,883 (GRCm39) Q844L probably damaging Het
Vmn2r85 C T 10: 130,254,990 (GRCm39) E565K probably damaging Het
Vmn2r97 T C 17: 19,167,561 (GRCm39) V605A possibly damaging Het
Vwa3a T C 7: 120,375,487 (GRCm39) V399A probably damaging Het
Wnk4 G A 11: 101,159,107 (GRCm39) R508Q probably damaging Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp616 T A 11: 73,974,830 (GRCm39) N457K possibly damaging Het
Other mutations in Dock3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Dock3 APN 9 106,788,576 (GRCm39) splice site probably benign
IGL01067:Dock3 APN 9 106,959,572 (GRCm39) critical splice donor site probably null
IGL01160:Dock3 APN 9 106,783,887 (GRCm39) missense probably damaging 1.00
IGL01290:Dock3 APN 9 106,835,599 (GRCm39) splice site probably benign
IGL01291:Dock3 APN 9 106,835,599 (GRCm39) splice site probably benign
IGL01391:Dock3 APN 9 106,784,433 (GRCm39) missense possibly damaging 0.55
IGL01399:Dock3 APN 9 106,870,670 (GRCm39) missense probably benign 0.06
IGL01660:Dock3 APN 9 106,909,563 (GRCm39) splice site probably benign
IGL01752:Dock3 APN 9 106,902,512 (GRCm39) splice site probably benign
IGL01820:Dock3 APN 9 106,773,092 (GRCm39) missense probably damaging 1.00
IGL01908:Dock3 APN 9 106,783,861 (GRCm39) missense possibly damaging 0.81
IGL02191:Dock3 APN 9 106,815,340 (GRCm39) missense probably benign
IGL02227:Dock3 APN 9 106,939,254 (GRCm39) missense probably damaging 0.98
IGL02309:Dock3 APN 9 106,790,351 (GRCm39) missense probably damaging 1.00
IGL02408:Dock3 APN 9 106,790,298 (GRCm39) splice site probably benign
IGL02469:Dock3 APN 9 106,863,215 (GRCm39) missense probably damaging 0.98
IGL02545:Dock3 APN 9 106,939,271 (GRCm39) missense probably damaging 1.00
IGL02894:Dock3 APN 9 106,807,298 (GRCm39) missense probably benign 0.00
IGL02934:Dock3 APN 9 106,900,944 (GRCm39) missense probably benign 0.01
IGL03027:Dock3 APN 9 106,870,677 (GRCm39) missense probably damaging 0.98
IGL03068:Dock3 APN 9 106,841,958 (GRCm39) missense possibly damaging 0.82
IGL03128:Dock3 APN 9 106,909,491 (GRCm39) missense probably benign 0.05
IGL03161:Dock3 APN 9 106,900,987 (GRCm39) missense probably damaging 0.99
IGL03263:Dock3 APN 9 106,807,330 (GRCm39) splice site probably benign
IGL03279:Dock3 APN 9 106,788,447 (GRCm39) splice site probably benign
IGL03366:Dock3 APN 9 106,882,632 (GRCm39) missense probably benign 0.01
Implosion UTSW 9 106,815,125 (GRCm39) missense probably benign 0.00
Squeeze UTSW 9 106,807,242 (GRCm39) missense probably damaging 1.00
Tight UTSW 9 106,872,080 (GRCm39) missense probably damaging 1.00
ANU05:Dock3 UTSW 9 106,772,862 (GRCm39) missense probably benign
R0025:Dock3 UTSW 9 106,790,467 (GRCm39) missense possibly damaging 0.90
R0025:Dock3 UTSW 9 106,790,467 (GRCm39) missense possibly damaging 0.90
R0030:Dock3 UTSW 9 106,789,512 (GRCm39) missense possibly damaging 0.64
R0076:Dock3 UTSW 9 106,788,685 (GRCm39) splice site probably benign
R0076:Dock3 UTSW 9 106,788,685 (GRCm39) splice site probably benign
R0206:Dock3 UTSW 9 106,874,195 (GRCm39) nonsense probably null
R0208:Dock3 UTSW 9 106,874,195 (GRCm39) nonsense probably null
R0384:Dock3 UTSW 9 106,779,094 (GRCm39) splice site probably benign
R0610:Dock3 UTSW 9 106,900,987 (GRCm39) missense probably damaging 0.99
R0731:Dock3 UTSW 9 106,847,055 (GRCm39) missense probably damaging 1.00
R1184:Dock3 UTSW 9 106,846,999 (GRCm39) missense probably damaging 1.00
R1350:Dock3 UTSW 9 106,791,831 (GRCm39) missense possibly damaging 0.52
R1393:Dock3 UTSW 9 106,788,548 (GRCm39) missense probably damaging 1.00
R1424:Dock3 UTSW 9 106,790,392 (GRCm39) missense probably damaging 1.00
R1469:Dock3 UTSW 9 106,832,908 (GRCm39) missense probably benign 0.37
R1469:Dock3 UTSW 9 106,832,908 (GRCm39) missense probably benign 0.37
R1539:Dock3 UTSW 9 106,874,112 (GRCm39) missense probably benign 0.23
R1539:Dock3 UTSW 9 106,829,563 (GRCm39) missense probably damaging 1.00
R1571:Dock3 UTSW 9 106,815,158 (GRCm39) missense possibly damaging 0.92
R1682:Dock3 UTSW 9 106,851,040 (GRCm39) missense probably damaging 0.98
R1795:Dock3 UTSW 9 106,902,534 (GRCm39) missense probably damaging 0.99
R1987:Dock3 UTSW 9 106,985,620 (GRCm39) missense probably benign 0.01
R2000:Dock3 UTSW 9 106,870,160 (GRCm39) splice site probably benign
R2074:Dock3 UTSW 9 106,870,662 (GRCm39) missense possibly damaging 0.46
R2114:Dock3 UTSW 9 106,870,743 (GRCm39) missense probably benign 0.00
R2265:Dock3 UTSW 9 106,818,525 (GRCm39) missense probably damaging 1.00
R2269:Dock3 UTSW 9 106,818,525 (GRCm39) missense probably damaging 1.00
R2370:Dock3 UTSW 9 106,829,554 (GRCm39) missense probably damaging 1.00
R2377:Dock3 UTSW 9 106,773,090 (GRCm39) missense probably damaging 0.98
R2385:Dock3 UTSW 9 106,868,324 (GRCm39) missense probably damaging 1.00
R2426:Dock3 UTSW 9 106,791,740 (GRCm39) missense possibly damaging 0.76
R3076:Dock3 UTSW 9 106,818,725 (GRCm39) critical splice acceptor site probably null
R3122:Dock3 UTSW 9 106,788,542 (GRCm39) missense probably damaging 0.99
R4052:Dock3 UTSW 9 106,850,995 (GRCm39) missense probably damaging 0.99
R4294:Dock3 UTSW 9 106,807,242 (GRCm39) missense probably damaging 1.00
R4623:Dock3 UTSW 9 106,939,244 (GRCm39) missense possibly damaging 0.61
R4664:Dock3 UTSW 9 106,870,743 (GRCm39) missense possibly damaging 0.71
R4705:Dock3 UTSW 9 106,902,535 (GRCm39) missense probably damaging 1.00
R4771:Dock3 UTSW 9 106,829,557 (GRCm39) missense possibly damaging 0.89
R4898:Dock3 UTSW 9 106,870,171 (GRCm39) missense possibly damaging 0.75
R4898:Dock3 UTSW 9 106,807,266 (GRCm39) missense probably damaging 1.00
R4961:Dock3 UTSW 9 106,818,515 (GRCm39) missense probably damaging 1.00
R4986:Dock3 UTSW 9 106,809,182 (GRCm39) missense probably damaging 1.00
R5054:Dock3 UTSW 9 106,815,105 (GRCm39) missense probably damaging 1.00
R5065:Dock3 UTSW 9 106,832,883 (GRCm39) missense probably damaging 1.00
R5081:Dock3 UTSW 9 106,868,292 (GRCm39) missense probably damaging 1.00
R5101:Dock3 UTSW 9 106,846,980 (GRCm39) missense probably damaging 1.00
R5135:Dock3 UTSW 9 106,810,196 (GRCm39) missense probably damaging 1.00
R5227:Dock3 UTSW 9 106,863,269 (GRCm39) missense probably damaging 1.00
R5257:Dock3 UTSW 9 106,874,124 (GRCm39) missense probably damaging 1.00
R5258:Dock3 UTSW 9 106,874,124 (GRCm39) missense probably damaging 1.00
R5273:Dock3 UTSW 9 106,777,904 (GRCm39) critical splice donor site probably null
R5322:Dock3 UTSW 9 106,779,028 (GRCm39) missense probably benign 0.14
R5482:Dock3 UTSW 9 106,855,937 (GRCm39) nonsense probably null
R5553:Dock3 UTSW 9 106,868,309 (GRCm39) missense possibly damaging 0.81
R5631:Dock3 UTSW 9 106,832,898 (GRCm39) missense probably benign 0.01
R5739:Dock3 UTSW 9 106,850,995 (GRCm39) missense possibly damaging 0.92
R5838:Dock3 UTSW 9 106,772,687 (GRCm39) missense possibly damaging 0.51
R5888:Dock3 UTSW 9 106,901,002 (GRCm39) missense probably benign 0.12
R5960:Dock3 UTSW 9 106,788,554 (GRCm39) nonsense probably null
R5974:Dock3 UTSW 9 106,871,261 (GRCm39) missense probably damaging 1.00
R6116:Dock3 UTSW 9 106,809,161 (GRCm39) missense probably damaging 1.00
R6162:Dock3 UTSW 9 106,841,998 (GRCm39) missense possibly damaging 0.88
R6176:Dock3 UTSW 9 106,790,147 (GRCm39) missense probably benign 0.05
R6219:Dock3 UTSW 9 106,872,080 (GRCm39) missense probably damaging 1.00
R6238:Dock3 UTSW 9 106,790,147 (GRCm39) missense probably benign 0.05
R6266:Dock3 UTSW 9 106,841,952 (GRCm39) missense probably damaging 0.99
R6291:Dock3 UTSW 9 106,785,631 (GRCm39) missense probably benign
R6531:Dock3 UTSW 9 106,844,415 (GRCm39) missense probably benign
R6567:Dock3 UTSW 9 106,773,946 (GRCm39) missense probably benign 0.13
R6572:Dock3 UTSW 9 106,866,674 (GRCm39) missense probably damaging 0.99
R6620:Dock3 UTSW 9 106,815,125 (GRCm39) missense probably benign 0.00
R6726:Dock3 UTSW 9 107,036,651 (GRCm39) nonsense probably null
R7085:Dock3 UTSW 9 106,779,086 (GRCm39) missense probably damaging 1.00
R7151:Dock3 UTSW 9 106,841,916 (GRCm39) missense possibly damaging 0.68
R7320:Dock3 UTSW 9 106,772,723 (GRCm39) missense probably benign 0.20
R7357:Dock3 UTSW 9 106,882,568 (GRCm39) missense probably benign 0.34
R7423:Dock3 UTSW 9 106,844,370 (GRCm39) missense probably damaging 0.98
R7426:Dock3 UTSW 9 106,772,782 (GRCm39) missense probably benign
R7439:Dock3 UTSW 9 106,900,931 (GRCm39) missense probably damaging 1.00
R7452:Dock3 UTSW 9 106,866,664 (GRCm39) missense probably damaging 1.00
R7470:Dock3 UTSW 9 106,882,644 (GRCm39) missense probably damaging 1.00
R7879:Dock3 UTSW 9 106,785,700 (GRCm39) missense probably benign 0.05
R8047:Dock3 UTSW 9 106,870,208 (GRCm39) missense possibly damaging 0.93
R8308:Dock3 UTSW 9 106,790,371 (GRCm39) missense probably benign 0.00
R8837:Dock3 UTSW 9 106,774,539 (GRCm39) missense probably benign
R8862:Dock3 UTSW 9 106,855,927 (GRCm39) missense probably damaging 1.00
R8952:Dock3 UTSW 9 106,850,958 (GRCm39) missense probably benign 0.03
R9230:Dock3 UTSW 9 106,807,223 (GRCm39) missense probably damaging 1.00
R9269:Dock3 UTSW 9 106,818,522 (GRCm39) missense probably benign 0.01
R9272:Dock3 UTSW 9 106,774,569 (GRCm39) missense probably benign 0.00
R9344:Dock3 UTSW 9 106,870,763 (GRCm39) missense probably damaging 1.00
R9757:Dock3 UTSW 9 106,901,035 (GRCm39) missense possibly damaging 0.48
R9764:Dock3 UTSW 9 106,959,713 (GRCm39) missense probably benign 0.00
R9766:Dock3 UTSW 9 106,788,483 (GRCm39) missense probably benign 0.01
X0023:Dock3 UTSW 9 106,863,197 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGGAAGCCTGGCTCTTTTCTAAG -3'
(R):5'- CTTAGCTAGGCAGAGACAGATAC -3'

Sequencing Primer
(F):5'- CCTGGCTCTTTTCTAAGGCTAGAAG -3'
(R):5'- GCAGAGACAGATACTAGATGTTTTTG -3'
Posted On 2016-04-27