Incidental Mutation 'R0610:Dock3'
ID 54632
Institutional Source Beutler Lab
Gene Symbol Dock3
Ensembl Gene ENSMUSG00000039716
Gene Name dedicator of cyto-kinesis 3
Synonyms Moca, PBP
MMRRC Submission 038799-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R0610 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106770024-107109108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106900987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 326 (D326G)
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: D326G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: D326G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170193
Meta Mutation Damage Score 0.4109 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 99% (97/98)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4930578I06Rik G A 14: 64,223,714 (GRCm39) R21* probably null Het
Abca15 A G 7: 119,965,009 (GRCm39) E757G possibly damaging Het
Abca5 T C 11: 110,192,353 (GRCm39) T720A probably benign Het
Actr5 T A 2: 158,474,376 (GRCm39) probably null Het
Adgrl3 T C 5: 81,841,563 (GRCm39) probably benign Het
Adra1a A G 14: 66,875,241 (GRCm39) D72G probably damaging Het
Ahcyl T C 16: 45,974,264 (GRCm39) E371G probably damaging Het
Ahnak G T 19: 8,985,242 (GRCm39) L2175F probably benign Het
AK157302 A G 13: 21,679,833 (GRCm39) T120A possibly damaging Het
Apol7a G A 15: 77,273,454 (GRCm39) A336V probably benign Het
Asic1 C A 15: 99,596,780 (GRCm39) H525Q probably benign Het
Atxn7l2 T C 3: 108,112,090 (GRCm39) D335G possibly damaging Het
Bpgm G T 6: 34,481,284 (GRCm39) R227L possibly damaging Het
Calm4 T A 13: 3,888,320 (GRCm39) V142E possibly damaging Het
Catsperg1 A T 7: 28,890,044 (GRCm39) L721Q probably damaging Het
Cdh26 A G 2: 178,091,691 (GRCm39) I83M probably damaging Het
Cep295 A C 9: 15,234,050 (GRCm39) S2249A possibly damaging Het
Cfhr4 G A 1: 139,629,584 (GRCm39) T799I probably benign Het
Cln3 A G 7: 126,179,361 (GRCm39) F139L probably damaging Het
Cmpk2 T A 12: 26,528,055 (GRCm39) L424Q possibly damaging Het
Col12a1 A T 9: 79,615,130 (GRCm39) V53E probably benign Het
Csmd1 G A 8: 15,968,208 (GRCm39) R3140C possibly damaging Het
Dagla A G 19: 10,248,922 (GRCm39) W11R probably damaging Het
Dbx2 C T 15: 95,522,778 (GRCm39) V310M probably benign Het
Disp2 T A 2: 118,622,717 (GRCm39) C1150S probably benign Het
Dph1 G T 11: 75,076,783 (GRCm39) probably benign Het
Dyrk1b C A 7: 27,886,059 (GRCm39) T594K probably damaging Het
Evx2 C A 2: 74,486,331 (GRCm39) A353S probably benign Het
Garin1b T A 6: 29,326,576 (GRCm39) V231E probably benign Het
Greb1 A C 12: 16,746,443 (GRCm39) S1276A probably benign Het
Hhipl1 T A 12: 108,285,661 (GRCm39) C490* probably null Het
Hmmr G T 11: 40,606,729 (GRCm39) T231K probably damaging Het
Hspa4l A C 3: 40,733,832 (GRCm39) E526D probably benign Het
Ibsp A G 5: 104,458,000 (GRCm39) E179G probably benign Het
Ift140 C T 17: 25,254,777 (GRCm39) A150V probably benign Het
Igf2bp2 A G 16: 21,889,059 (GRCm39) S416P probably benign Het
Ighe T C 12: 113,235,363 (GRCm39) K294E unknown Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kng2 T A 16: 22,819,344 (GRCm39) N231Y possibly damaging Het
Lca5 A T 9: 83,281,792 (GRCm39) C331S probably benign Het
Lrrc1 A G 9: 77,379,488 (GRCm39) I101T possibly damaging Het
Lrrk2 A T 15: 91,699,619 (GRCm39) I2489L probably benign Het
Lyz3 A G 10: 117,073,635 (GRCm39) F66S probably benign Het
Mapk9 A C 11: 49,754,400 (GRCm39) N51T probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nek2 T A 1: 191,554,627 (GRCm39) V113D probably damaging Het
Nr4a3 C A 4: 48,051,903 (GRCm39) A248E probably benign Het
Nrp1 T C 8: 129,229,099 (GRCm39) I859T probably damaging Het
Olfm5 A T 7: 103,803,652 (GRCm39) Y195* probably null Het
Or13j1 T A 4: 43,706,400 (GRCm39) H56L possibly damaging Het
Or1n2 T A 2: 36,797,671 (GRCm39) W238R probably damaging Het
Or8g35 A G 9: 39,381,119 (GRCm39) L301P probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcnx2 A G 8: 126,566,426 (GRCm39) W1006R probably damaging Het
Pdpk1 T C 17: 24,317,145 (GRCm39) probably null Het
Ryr2 T A 13: 11,637,838 (GRCm39) H3731L probably damaging Het
Sdr16c5 T G 4: 4,016,116 (GRCm39) E103D possibly damaging Het
Setdb2 A C 14: 59,654,919 (GRCm39) S324A possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc17a8 A T 10: 89,412,488 (GRCm39) I499K probably damaging Het
Slc2a9 T A 5: 38,537,285 (GRCm39) I389F probably damaging Het
Slc30a1 T C 1: 191,641,536 (GRCm39) V394A probably damaging Het
Slc41a2 A G 10: 83,119,592 (GRCm39) I390T possibly damaging Het
Slco1a1 A G 6: 141,864,187 (GRCm39) probably null Het
Slit2 A G 5: 48,433,016 (GRCm39) K1053E possibly damaging Het
Smarca2 T A 19: 26,668,791 (GRCm39) L930Q probably damaging Het
Snx6 T C 12: 54,798,574 (GRCm39) H387R probably damaging Het
Sox5 A T 6: 143,779,165 (GRCm39) M622K possibly damaging Het
Ston1 C A 17: 88,942,709 (GRCm39) N38K possibly damaging Het
Strbp C T 2: 37,474,089 (GRCm39) V658I probably damaging Het
Strn3 T C 12: 51,657,231 (GRCm39) probably null Het
Suco T G 1: 161,687,072 (GRCm39) D96A probably benign Het
Suco A G 1: 161,691,601 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,061 (GRCm39) probably benign Het
Tmem41b T A 7: 109,580,290 (GRCm39) M25L probably benign Het
Tmem41b T A 7: 109,580,292 (GRCm39) D91V probably damaging Het
Tmem50b C T 16: 91,380,174 (GRCm39) A68T probably damaging Het
Tmprss11e G A 5: 86,855,206 (GRCm39) Q400* probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trappc8 A G 18: 20,970,245 (GRCm39) V916A probably damaging Het
Trdn G T 10: 33,350,449 (GRCm39) V673F probably damaging Het
Trim28 G T 7: 12,759,711 (GRCm39) probably benign Het
Txnrd2 T C 16: 18,291,632 (GRCm39) V427A probably damaging Het
Uggt1 T C 1: 36,204,587 (GRCm39) probably benign Het
Vmn1r36 A G 6: 66,693,404 (GRCm39) L51P probably damaging Het
Vmn1r63 T A 7: 5,806,063 (GRCm39) M190L possibly damaging Het
Vmn2r116 T A 17: 23,606,286 (GRCm39) N399K probably damaging Het
Vmn2r117 T C 17: 23,694,488 (GRCm39) N453S probably benign Het
Wbp1l T A 19: 46,643,109 (GRCm39) I370N probably damaging Het
Zfp445 T C 9: 122,682,046 (GRCm39) K632E probably benign Het
Zfp850 C T 7: 27,688,819 (GRCm39) R463H probably damaging Het
Zyg11a A G 4: 108,062,054 (GRCm39) L249P 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
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
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'- AGCTTGGACCAAAATAGCTTTCCCAC -3'
(R):5'- AGCTCCTTGCTCTTCTTAGAGGATCTG -3'

Sequencing Primer
(F):5'- ACTAACCTCCCTATACTACATATGC -3'
(R):5'- GTACCTATAGCTCTGGTGGCAC -3'
Posted On 2013-07-11