Incidental Mutation 'R5504:Dock5'
ID 430850
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 043065-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R5504 (G1)
Quality Score 215
Status Validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68040535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 884 (D884G)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: D884G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: D884G

DomainStartEndE-ValueType
SH3 11 68 1.45e-13 SMART
Pfam:DOCK_N 71 434 9e-110 PFAM
Pfam:DOCK-C2 439 636 1.1e-57 PFAM
low complexity region 752 764 N/A INTRINSIC
Pfam:DHR-2 1133 1635 6.4e-99 PFAM
low complexity region 1663 1692 N/A INTRINSIC
low complexity region 1815 1824 N/A INTRINSIC
Meta Mutation Damage Score 0.1203 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Asphd1 T C 7: 126,545,350 (GRCm39) I336V possibly damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Bsx A T 9: 40,785,460 (GRCm39) probably benign Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Capza3 A T 6: 139,988,165 (GRCm39) I255L probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Lgals3bp G T 11: 118,284,811 (GRCm39) T256N probably benign Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign Het
Other mutations in Dock5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Dock5 APN 14 68,024,338 (GRCm39) splice site probably benign
IGL00930:Dock5 APN 14 68,008,526 (GRCm39) missense probably damaging 1.00
IGL01525:Dock5 APN 14 68,043,169 (GRCm39) splice site probably benign
IGL01759:Dock5 APN 14 68,118,708 (GRCm39) nonsense probably null
IGL01941:Dock5 APN 14 68,049,681 (GRCm39) missense probably damaging 1.00
IGL02025:Dock5 APN 14 68,000,736 (GRCm39) missense probably damaging 1.00
IGL02093:Dock5 APN 14 68,076,992 (GRCm39) splice site probably benign
IGL02179:Dock5 APN 14 68,043,945 (GRCm39) splice site probably benign
IGL02208:Dock5 APN 14 68,065,899 (GRCm39) missense probably benign 0.06
IGL02605:Dock5 APN 14 68,065,887 (GRCm39) missense probably benign 0.18
IGL02608:Dock5 APN 14 68,065,888 (GRCm39) missense probably benign 0.01
IGL02938:Dock5 APN 14 67,994,667 (GRCm39) splice site probably benign
IGL02971:Dock5 APN 14 67,994,558 (GRCm39) missense probably null 1.00
IGL02983:Dock5 APN 14 68,002,119 (GRCm39) missense probably damaging 1.00
IGL03151:Dock5 APN 14 68,103,516 (GRCm39) missense probably damaging 1.00
IGL03410:Dock5 APN 14 68,083,535 (GRCm39) missense probably benign 0.04
PIT4366001:Dock5 UTSW 14 68,062,123 (GRCm39) missense possibly damaging 0.83
R0026:Dock5 UTSW 14 68,083,530 (GRCm39) missense probably benign 0.00
R0058:Dock5 UTSW 14 68,018,485 (GRCm39) missense probably benign 0.00
R0058:Dock5 UTSW 14 68,018,485 (GRCm39) missense probably benign 0.00
R0112:Dock5 UTSW 14 68,057,090 (GRCm39) missense probably benign
R0127:Dock5 UTSW 14 68,083,491 (GRCm39) missense probably benign 0.13
R0144:Dock5 UTSW 14 68,023,735 (GRCm39) missense probably benign 0.18
R0312:Dock5 UTSW 14 68,033,440 (GRCm39) missense possibly damaging 0.82
R0360:Dock5 UTSW 14 68,060,129 (GRCm39) splice site probably benign
R0364:Dock5 UTSW 14 68,060,129 (GRCm39) splice site probably benign
R0496:Dock5 UTSW 14 68,054,967 (GRCm39) missense probably damaging 1.00
R0506:Dock5 UTSW 14 68,022,241 (GRCm39) splice site probably benign
R0586:Dock5 UTSW 14 68,046,481 (GRCm39) missense probably damaging 1.00
R0597:Dock5 UTSW 14 68,022,383 (GRCm39) splice site probably null
R0625:Dock5 UTSW 14 68,078,612 (GRCm39) missense probably benign
R1109:Dock5 UTSW 14 68,043,927 (GRCm39) missense possibly damaging 0.80
R1221:Dock5 UTSW 14 67,996,610 (GRCm39) missense probably benign 0.00
R1278:Dock5 UTSW 14 68,077,015 (GRCm39) missense possibly damaging 0.80
R1927:Dock5 UTSW 14 68,083,511 (GRCm39) missense possibly damaging 0.60
R1944:Dock5 UTSW 14 67,994,584 (GRCm39) nonsense probably null
R1946:Dock5 UTSW 14 68,023,765 (GRCm39) missense probably damaging 1.00
R2046:Dock5 UTSW 14 68,049,591 (GRCm39) missense probably benign
R2101:Dock5 UTSW 14 68,031,459 (GRCm39) missense probably benign 0.02
R2252:Dock5 UTSW 14 68,022,261 (GRCm39) missense probably damaging 0.98
R2882:Dock5 UTSW 14 68,077,069 (GRCm39) missense probably damaging 0.99
R3110:Dock5 UTSW 14 68,095,371 (GRCm39) missense possibly damaging 0.72
R3112:Dock5 UTSW 14 68,095,371 (GRCm39) missense possibly damaging 0.72
R4236:Dock5 UTSW 14 67,993,941 (GRCm39) missense probably benign 0.02
R4242:Dock5 UTSW 14 68,065,939 (GRCm39) missense probably benign 0.19
R4244:Dock5 UTSW 14 68,012,031 (GRCm39) missense probably benign 0.41
R4646:Dock5 UTSW 14 68,080,228 (GRCm39) missense probably benign 0.01
R4793:Dock5 UTSW 14 68,037,803 (GRCm39) missense probably benign 0.26
R4841:Dock5 UTSW 14 68,055,012 (GRCm39) missense probably damaging 0.98
R4842:Dock5 UTSW 14 68,055,012 (GRCm39) missense probably damaging 0.98
R5159:Dock5 UTSW 14 68,029,738 (GRCm39) missense probably benign 0.04
R5164:Dock5 UTSW 14 68,055,110 (GRCm39) nonsense probably null
R5206:Dock5 UTSW 14 68,000,633 (GRCm39) missense probably benign 0.35
R5207:Dock5 UTSW 14 68,013,733 (GRCm39) missense probably benign 0.06
R5322:Dock5 UTSW 14 68,007,715 (GRCm39) missense probably benign 0.41
R5374:Dock5 UTSW 14 68,043,205 (GRCm39) missense possibly damaging 0.81
R5413:Dock5 UTSW 14 68,002,104 (GRCm39) missense probably damaging 1.00
R5476:Dock5 UTSW 14 68,051,456 (GRCm39) missense possibly damaging 0.92
R5677:Dock5 UTSW 14 68,015,052 (GRCm39) missense probably benign 0.00
R5773:Dock5 UTSW 14 68,033,507 (GRCm39) missense possibly damaging 0.95
R5845:Dock5 UTSW 14 68,078,550 (GRCm39) missense possibly damaging 0.82
R5957:Dock5 UTSW 14 68,095,443 (GRCm39) missense probably benign
R6154:Dock5 UTSW 14 68,097,361 (GRCm39) missense probably benign 0.03
R6268:Dock5 UTSW 14 68,027,724 (GRCm39) nonsense probably null
R6393:Dock5 UTSW 14 68,060,051 (GRCm39) missense probably benign 0.32
R6512:Dock5 UTSW 14 68,062,097 (GRCm39) missense possibly damaging 0.93
R6759:Dock5 UTSW 14 68,033,445 (GRCm39) missense probably benign 0.00
R7012:Dock5 UTSW 14 68,060,035 (GRCm39) missense probably damaging 1.00
R7061:Dock5 UTSW 14 68,007,703 (GRCm39) missense probably damaging 0.96
R7196:Dock5 UTSW 14 67,993,919 (GRCm39) missense probably damaging 1.00
R7200:Dock5 UTSW 14 68,009,151 (GRCm39) nonsense probably null
R7311:Dock5 UTSW 14 68,065,951 (GRCm39) missense probably benign 0.25
R7359:Dock5 UTSW 14 68,003,337 (GRCm39) missense probably benign 0.10
R7422:Dock5 UTSW 14 68,046,479 (GRCm39) missense probably benign 0.01
R7588:Dock5 UTSW 14 68,000,607 (GRCm39) critical splice donor site probably null
R7637:Dock5 UTSW 14 68,023,789 (GRCm39) missense possibly damaging 0.95
R7709:Dock5 UTSW 14 68,033,454 (GRCm39) missense probably benign 0.44
R7763:Dock5 UTSW 14 68,058,776 (GRCm39) missense probably damaging 0.97
R8044:Dock5 UTSW 14 68,062,141 (GRCm39) missense probably damaging 1.00
R8076:Dock5 UTSW 14 68,040,426 (GRCm39) splice site probably null
R8168:Dock5 UTSW 14 68,007,646 (GRCm39) splice site probably null
R8353:Dock5 UTSW 14 68,054,957 (GRCm39) splice site probably null
R8480:Dock5 UTSW 14 68,073,859 (GRCm39) missense probably benign 0.32
R8535:Dock5 UTSW 14 68,031,425 (GRCm39) missense probably benign 0.19
R8708:Dock5 UTSW 14 68,004,820 (GRCm39) missense probably benign 0.02
R8732:Dock5 UTSW 14 68,083,449 (GRCm39) missense possibly damaging 0.85
R8888:Dock5 UTSW 14 68,055,112 (GRCm39) missense possibly damaging 0.95
R8895:Dock5 UTSW 14 68,055,112 (GRCm39) missense possibly damaging 0.95
R8936:Dock5 UTSW 14 68,083,439 (GRCm39) nonsense probably null
R8962:Dock5 UTSW 14 67,994,640 (GRCm39) missense probably benign
R8972:Dock5 UTSW 14 68,013,749 (GRCm39) missense probably damaging 1.00
R9244:Dock5 UTSW 14 67,996,563 (GRCm39) missense probably damaging 0.99
R9345:Dock5 UTSW 14 68,060,071 (GRCm39) missense possibly damaging 0.74
R9679:Dock5 UTSW 14 68,018,450 (GRCm39) missense probably damaging 1.00
X0023:Dock5 UTSW 14 68,008,537 (GRCm39) missense probably benign 0.15
Z1177:Dock5 UTSW 14 68,051,382 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GGAAGACCACAGTTTCCTGC -3'
(R):5'- ACTGTAGTCTGTGCTCACATC -3'

Sequencing Primer
(F):5'- CACAGTTTCCTGCTGGGG -3'
(R):5'- ATCCGCCTGTAAGTTCATAGG -3'
Posted On 2016-10-05