Incidental Mutation 'R1539:Dock3'
ID 171567
Institutional Source Beutler Lab
Gene Symbol Dock3
Ensembl Gene ENSMUSG00000039716
Gene Name dedicator of cyto-kinesis 3
Synonyms Moca, PBP
MMRRC Submission 039578-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R1539 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106770024-107109108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106874112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 453 (A453V)
Ref Sequence ENSEMBL: ENSMUSP00000047652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044532]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044532
AA Change: A453V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: A453V

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.0%
Validation Efficiency
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,652,097 (GRCm39) probably null Het
Adh7 A C 3: 137,929,716 (GRCm39) T131P possibly damaging Het
Agxt G A 1: 93,065,701 (GRCm39) G190D probably damaging Het
AI182371 A G 2: 34,978,815 (GRCm39) I193T probably damaging Het
Akna T A 4: 63,297,547 (GRCm39) T836S probably benign Het
Alox12 T C 11: 70,144,069 (GRCm39) probably null Het
Anapc2 C A 2: 25,163,075 (GRCm39) T104K probably benign Het
Ank1 T C 8: 23,583,935 (GRCm39) L346P probably damaging Het
Ankfn1 A T 11: 89,332,217 (GRCm39) I443N probably damaging Het
Arhgef17 G A 7: 100,539,680 (GRCm39) T1066I probably damaging Het
Atg2a C A 19: 6,296,801 (GRCm39) probably null Het
Bpifb5 T A 2: 154,065,776 (GRCm39) H24Q probably benign Het
Brd9 A G 13: 74,092,862 (GRCm39) E283G probably damaging Het
Cadm2 C A 16: 66,581,727 (GRCm39) V184F probably damaging Het
Casr A G 16: 36,315,499 (GRCm39) V857A probably benign Het
Ccdc18 A T 5: 108,339,843 (GRCm39) Q796L probably damaging Het
Cep290 T C 10: 100,332,690 (GRCm39) V263A probably benign Het
Clec10a A T 11: 70,060,645 (GRCm39) N167Y probably damaging Het
Cog1 A G 11: 113,543,058 (GRCm39) I189V possibly damaging Het
Commd2 A G 3: 57,554,269 (GRCm39) I144T probably benign Het
Cse1l A G 2: 166,768,292 (GRCm39) T197A probably benign Het
Csmd3 A T 15: 47,683,794 (GRCm39) S1783R probably benign Het
Cxxc1 T C 18: 74,352,278 (GRCm39) V334A possibly damaging Het
Dennd2d A G 3: 106,394,236 (GRCm39) I39V probably benign Het
Dgkz G A 2: 91,768,405 (GRCm39) P734S probably damaging Het
Diaph3 T C 14: 86,893,916 (GRCm39) D31G probably damaging Het
Dlec1 T C 9: 118,956,518 (GRCm39) S731P probably benign Het
Dmac2l G A 12: 69,787,845 (GRCm39) D94N probably benign Het
Dnah11 T C 12: 117,894,991 (GRCm39) R3619G probably benign Het
Doc2b A G 11: 75,662,783 (GRCm39) L405P probably damaging Het
Ece2 T A 16: 20,461,263 (GRCm39) I474N probably damaging Het
Etv4 A T 11: 101,662,513 (GRCm39) probably null Het
Fam171b A T 2: 83,710,442 (GRCm39) M705L probably benign Het
Frem2 T C 3: 53,561,631 (GRCm39) K959E probably benign Het
Fyn T C 10: 39,408,066 (GRCm39) M251T possibly damaging Het
Galnt13 G A 2: 54,747,869 (GRCm39) G250E probably damaging Het
Ggh T C 4: 20,054,204 (GRCm39) probably null Het
Glcci1 A G 6: 8,591,620 (GRCm39) E222G probably damaging Het
Gm1968 G A 16: 29,777,659 (GRCm39) noncoding transcript Het
Gm3604 T A 13: 62,519,414 (GRCm39) I52F possibly damaging Het
Gm43302 T C 5: 105,422,635 (GRCm39) I466V probably benign Het
Gm9789 T C 16: 88,955,034 (GRCm39) S48P unknown Het
Gpat3 A T 5: 101,031,254 (GRCm39) Y136F probably benign Het
Gpr171 T C 3: 59,005,142 (GRCm39) D211G possibly damaging Het
Grep1 T A 17: 23,936,118 (GRCm39) probably benign Het
Hs3st1 T C 5: 39,771,791 (GRCm39) K284R probably benign Het
Htr2a C T 14: 74,882,608 (GRCm39) A198V possibly damaging Het
Ice1 C A 13: 70,754,023 (GRCm39) D688Y probably damaging Het
Jade1 T C 3: 41,559,431 (GRCm39) M504T probably benign Het
Lrp1 T C 10: 127,420,250 (GRCm39) probably null Het
Lsr A T 7: 30,671,517 (GRCm39) I72N possibly damaging Het
Magel2 G A 7: 62,028,557 (GRCm39) R487H possibly damaging Het
Mertk A G 2: 128,624,446 (GRCm39) D619G probably benign Het
Myo1b A T 1: 51,838,722 (GRCm39) V245E probably damaging Het
Myrip T A 9: 120,253,689 (GRCm39) L254Q probably benign Het
Nav3 A G 10: 109,603,031 (GRCm39) S1173P probably damaging Het
Ncoa7 T C 10: 30,647,725 (GRCm39) Y17C probably damaging Het
Ncor2 T C 5: 125,187,003 (GRCm39) E7G probably benign Het
Ninl A G 2: 150,817,867 (GRCm39) V99A probably damaging Het
Noct G T 3: 51,155,333 (GRCm39) E34* probably null Het
Notch1 A T 2: 26,362,125 (GRCm39) Y1043* probably null Het
Or10v1 T C 19: 11,873,855 (GRCm39) S157P possibly damaging Het
Or13a21 T A 7: 139,999,326 (GRCm39) Y120F probably benign Het
Or2d3 A G 7: 106,490,483 (GRCm39) Y278H probably damaging Het
Or6c88 G A 10: 129,406,640 (GRCm39) G39R probably damaging Het
Pde7b C A 10: 20,355,432 (GRCm39) R104L possibly damaging Het
Pkn1 C A 8: 84,396,966 (GRCm39) R890L possibly damaging Het
Podn A T 4: 107,878,764 (GRCm39) Y368N probably damaging Het
Polr1b G A 2: 128,960,019 (GRCm39) probably null Het
Ppp1r3c A T 19: 36,711,361 (GRCm39) F136L probably benign Het
Ppp2ca T A 11: 52,011,800 (GRCm39) F260Y probably damaging Het
Prss39 A G 1: 34,537,616 (GRCm39) S27G possibly damaging Het
Ptch1 A G 13: 63,689,101 (GRCm39) V340A probably benign Het
Ranbp17 T C 11: 33,247,394 (GRCm39) I246V probably damaging Het
Rilpl1 T A 5: 124,653,618 (GRCm39) D181V probably damaging Het
Sdk1 T A 5: 142,080,354 (GRCm39) V1282D probably damaging Het
Sh3rf2 T C 18: 42,282,887 (GRCm39) S514P probably damaging Het
Slc35f2 A T 9: 53,716,992 (GRCm39) I252F possibly damaging Het
Slc7a1 A G 5: 148,272,403 (GRCm39) Y425H possibly damaging Het
Spaca4 G T 7: 45,374,984 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,863,733 (GRCm39) S294P possibly damaging Het
Ssh1 T G 5: 114,090,064 (GRCm39) T342P probably damaging Het
Stk10 T A 11: 32,483,440 (GRCm39) S13T possibly damaging Het
Tbx1 G T 16: 18,402,843 (GRCm39) D214E probably benign Het
Tdp1 A G 12: 99,878,571 (GRCm39) E453G probably damaging Het
Tlr1 T C 5: 65,084,319 (GRCm39) Y86C probably damaging Het
Tmem241 A T 18: 12,176,297 (GRCm39) C124S possibly damaging Het
Trp63 A G 16: 25,703,599 (GRCm39) M516V probably benign Het
Ttc28 T C 5: 111,248,677 (GRCm39) V210A possibly damaging Het
Tut1 C T 19: 8,942,850 (GRCm39) R646W probably benign Het
Ubald1 C T 16: 4,694,261 (GRCm39) E49K possibly damaging Het
Usp28 T C 9: 48,949,096 (GRCm39) Y897H probably benign Het
Vmn2r27 A C 6: 124,168,730 (GRCm39) F800C probably damaging Het
Vmn2r83 T A 10: 79,327,759 (GRCm39) M789K probably damaging Het
Vwa8 A G 14: 79,300,002 (GRCm39) D945G probably benign Het
Wdhd1 T A 14: 47,482,507 (GRCm39) K947N possibly damaging Het
Wdr12 A T 1: 60,123,007 (GRCm39) probably null Het
Xrra1 A T 7: 99,520,564 (GRCm39) E57V probably 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 9 106,829,563 (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
R4948:Dock3 UTSW 9 106,868,354 (GRCm39) missense probably damaging 0.96
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'- TTCTGTTCTAAACCCGGCACCAAG -3'
(R):5'- ACTAACCTGAGTACTGCCGCACTG -3'

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