Incidental Mutation 'R6393:Dock5'
ID 515896
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 044542-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R6393 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68060051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 463 (P463S)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: P463S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: P463S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224823
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 99% (70/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,690 (GRCm39) Q14R possibly damaging Het
Adamts12 A G 15: 11,255,721 (GRCm39) D430G probably damaging Het
Agxt2 T C 15: 10,393,894 (GRCm39) probably null Het
Akirin1 T G 4: 123,637,324 (GRCm39) Q87P possibly damaging Het
Ank2 G A 3: 126,723,406 (GRCm39) R974C probably damaging Het
Arhgap23 A G 11: 97,354,498 (GRCm39) I804V probably damaging Het
Arhgef28 A T 13: 98,130,527 (GRCm39) L437Q possibly damaging Het
Atp8a2 G T 14: 60,011,204 (GRCm39) Y967* probably null Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Ccdc80 T A 16: 44,916,828 (GRCm39) V528D possibly damaging Het
Chd6 A G 2: 160,821,407 (GRCm39) Y1296H probably damaging Het
Chst13 G A 6: 90,302,063 (GRCm39) R28C possibly damaging Het
Clrn1 A G 3: 58,753,741 (GRCm39) F207L probably damaging Het
Col12a1 T C 9: 79,562,767 (GRCm39) T1772A probably damaging Het
Cubn T C 2: 13,360,491 (GRCm39) T1744A probably benign Het
Dchs2 A G 3: 83,037,218 (GRCm39) E655G probably damaging Het
Dnajb3 T A 1: 88,133,384 (GRCm39) E6V possibly damaging Het
Eif4a3l1 A G 6: 136,305,596 (GRCm39) K19R probably benign Het
Fancd2 T A 6: 113,555,374 (GRCm39) C1128S probably benign Het
Fcrl5 G A 3: 87,355,634 (GRCm39) G449E probably damaging Het
Frem2 G T 3: 53,493,061 (GRCm39) N1818K possibly damaging Het
Gm21149 C A 5: 15,678,037 (GRCm39) V187L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gstm7 A G 3: 107,838,142 (GRCm39) probably null Het
Htr1b T A 9: 81,513,810 (GRCm39) I266F probably benign Het
Jakmip3 T C 7: 138,620,900 (GRCm39) I305T probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kifc5b T C 17: 27,140,816 (GRCm39) C97R probably benign Het
Klhl30 A T 1: 91,288,912 (GRCm39) H557L probably damaging Het
Lama3 T C 18: 12,612,813 (GRCm39) V1199A probably benign Het
Lmbr1 A G 5: 29,459,292 (GRCm39) L246P probably damaging Het
M6pr T C 6: 122,292,339 (GRCm39) L178P possibly damaging Het
Med17 A G 9: 15,185,879 (GRCm39) S212P probably damaging Het
Med23 T A 10: 24,749,374 (GRCm39) S31T possibly damaging Het
Morc2b T G 17: 33,356,750 (GRCm39) T341P probably damaging Het
Mre11a A G 9: 14,696,805 (GRCm39) M1V probably null Het
Mrpl17 T C 7: 105,459,122 (GRCm39) H158R probably benign Het
Mstn A G 1: 53,105,648 (GRCm39) Q330R probably benign Het
Muc16 T A 9: 18,558,695 (GRCm39) K2533* probably null Het
N4bp2 T C 5: 65,948,344 (GRCm39) S325P possibly damaging Het
Nadk A G 4: 155,673,808 (GRCm39) Y399C possibly damaging Het
Nbea A C 3: 55,998,540 (GRCm39) L89R probably damaging Het
Ncoa1 A G 12: 4,328,181 (GRCm39) F775L probably benign Het
Ndufa11 C A 17: 57,028,331 (GRCm39) A70E probably damaging Het
Nfx1 A G 4: 40,976,851 (GRCm39) Y175C possibly damaging Het
Or10q3 A T 19: 11,848,091 (GRCm39) L163Q probably damaging Het
Or12e9 A G 2: 87,201,909 (GRCm39) N11S probably damaging Het
Pcsk6 T C 7: 65,618,762 (GRCm39) S443P probably damaging Het
Pcsk9 T C 4: 106,304,793 (GRCm39) D425G probably benign Het
Pdcd1lg2 T A 19: 29,414,698 (GRCm39) C42S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Rbm46 G A 3: 82,771,262 (GRCm39) T451M probably benign Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Rpl7l1 T C 17: 47,093,548 (GRCm39) E4G probably benign Het
Rptn A G 3: 93,304,506 (GRCm39) E613G probably benign Het
Sbk2 T C 7: 4,960,621 (GRCm39) D183G probably damaging Het
Slc15a4 C T 5: 127,693,950 (GRCm39) A162T probably benign Het
Slc30a4 A G 2: 122,527,966 (GRCm39) W315R probably damaging Het
Slc39a14 G C 14: 70,547,262 (GRCm39) F361L probably benign Het
Slc6a13 T C 6: 121,313,801 (GRCm39) Y515H possibly damaging Het
Slitrk3 C A 3: 72,957,247 (GRCm39) K508N possibly damaging Het
Stard4 T C 18: 33,338,278 (GRCm39) D144G probably benign Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tshz1 A T 18: 84,031,345 (GRCm39) V1021D probably damaging Het
Vmn1r54 A T 6: 90,246,304 (GRCm39) I73F probably benign Het
Vmn2r19 A C 6: 123,293,112 (GRCm39) S385R possibly damaging Het
Xkr5 A G 8: 18,998,716 (GRCm39) L34P probably damaging Het
Xpo4 A G 14: 57,875,770 (GRCm39) V121A probably damaging Het
Zbtb40 T A 4: 136,712,177 (GRCm39) H268L probably null Het
Zfp865 T C 7: 5,033,065 (GRCm39) F350S probably damaging Het
Zscan4b T C 7: 10,634,828 (GRCm39) I472V possibly damaging 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
R5504:Dock5 UTSW 14 68,040,535 (GRCm39) missense probably benign 0.01
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
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'- TGATGCATACCTGTGATCCC -3'
(R):5'- CTGTGGAATAAGCAGGCCATTAC -3'

Sequencing Primer
(F):5'- TGCATACCTGTGATCCCAAAGTAAG -3'
(R):5'- GGCCATTACCAGCAGACTG -3'
Posted On 2018-05-04