Incidental Mutation 'R2252:Dock5'
ID 241774
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68022261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1171 (L1171H)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably damaging
Transcript: ENSMUST00000039135
AA Change: L1171H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: L1171H

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null 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
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
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'- GGACTCCCATTGGGTAAACAC -3'
(R):5'- GAACACTGTCTGCATGGGTG -3'

Sequencing Primer
(F):5'- TTGGGTAAACACTATCCACCGTGAG -3'
(R):5'- TTCTCCACGAACTTTGGAAACAGTC -3'
Posted On 2014-10-16