Incidental Mutation 'R7359:Dock5'
ID 571226
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 045445-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R7359 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68003337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1586 (V1586A)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: V1586A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: V1586A

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 0.3740 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (87/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,348 (GRCm39) V1233A possibly damaging Het
Abcc9 G A 6: 142,617,408 (GRCm39) T552I probably damaging Het
Adgrf4 T C 17: 42,978,003 (GRCm39) I447V possibly damaging Het
Akirin2 T A 4: 34,565,944 (GRCm39) D178E probably damaging Het
Arhgap12 T C 18: 6,065,709 (GRCm39) E359G possibly damaging Het
Arhgef5 A C 6: 43,257,216 (GRCm39) T1256P probably damaging Het
Avpr1a A C 10: 122,285,283 (GRCm39) I192L possibly damaging Het
B4galnt4 A G 7: 140,651,197 (GRCm39) H926R probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc68 C T 18: 70,089,123 (GRCm39) A222V probably benign Het
Cdc23 T C 18: 34,774,394 (GRCm39) Y295C probably benign Het
Ceacam10 T C 7: 24,480,432 (GRCm39) Y188H unknown Het
Cfap57 T A 4: 118,456,162 (GRCm39) T511S probably benign Het
Cftr T C 6: 18,221,623 (GRCm39) V245A probably benign Het
Cit A G 5: 116,064,633 (GRCm39) D505G probably damaging Het
Cmah T G 13: 24,652,539 (GRCm39) N556K probably benign Het
Cspg4b T C 13: 113,478,964 (GRCm39) S1503P Het
D430041D05Rik C A 2: 104,044,482 (GRCm39) D839Y probably damaging Het
Dek T C 13: 47,259,065 (GRCm39) D47G unknown Het
Des C T 1: 75,337,596 (GRCm39) R179C probably damaging Het
Desi2 A G 1: 178,015,509 (GRCm39) N10D probably benign Het
Dlg5 T C 14: 24,214,615 (GRCm39) N679S probably damaging Het
Dnajc24 T C 2: 105,832,293 (GRCm39) Y30C probably damaging Het
Dock10 T A 1: 80,687,065 (GRCm39) H34L probably benign Het
Dpy19l4 A G 4: 11,273,125 (GRCm39) V576A probably benign Het
Dusp6 A G 10: 99,099,927 (GRCm39) E125G probably benign Het
Dync1h1 T C 12: 110,591,036 (GRCm39) Y1035H probably benign Het
Dysf G A 6: 84,172,306 (GRCm39) probably null Het
En1 A G 1: 120,534,817 (GRCm39) K369E unknown Het
F2r A G 13: 95,741,194 (GRCm39) Y114H probably damaging Het
Fam184a T C 10: 53,575,318 (GRCm39) Y97C probably damaging Het
Fggy T C 4: 95,657,717 (GRCm39) V286A probably benign Het
Flot2 T C 11: 77,949,383 (GRCm39) I322T probably benign Het
Fndc1 A T 17: 8,032,318 (GRCm39) probably null Het
Frs3 A G 17: 48,010,450 (GRCm39) D28G probably damaging Het
Gimap3 C T 6: 48,742,280 (GRCm39) D217N probably benign Het
Gm128 A G 3: 95,147,934 (GRCm39) V120A probably benign Het
Gm17190 T C 13: 96,218,970 (GRCm39) V102A probably damaging Het
Gm17268 A G 11: 81,919,057 (GRCm39) V20A unknown Het
Grsf1 A T 5: 88,813,423 (GRCm39) probably null Het
Hmcn2 A T 2: 31,278,395 (GRCm39) Y1699F probably benign Het
Hnmt T A 2: 23,938,731 (GRCm39) M36L probably benign Het
Hoxd1 C A 2: 74,594,447 (GRCm39) T234K probably damaging Het
Hydin C G 8: 111,232,733 (GRCm39) S1679R probably damaging Het
Jag1 T C 2: 136,926,226 (GRCm39) R1059G probably benign Het
Kbtbd11 T C 8: 15,078,858 (GRCm39) W486R probably damaging Het
Kcnh6 A G 11: 105,909,789 (GRCm39) D438G possibly damaging Het
Lgals4 T G 7: 28,540,724 (GRCm39) F276V probably benign Het
Lrp6 G T 6: 134,427,923 (GRCm39) Y1556* probably null Het
Mpdz G A 4: 81,274,632 (GRCm39) L855F probably benign Het
Muc16 A T 9: 18,554,316 (GRCm39) D3992E unknown Het
Npc1 T C 18: 12,328,237 (GRCm39) N1024S probably benign Het
Nsfl1c A G 2: 151,336,279 (GRCm39) T18A probably benign Het
Or12e8 T A 2: 87,188,555 (GRCm39) L256I possibly damaging Het
Or12k5 A T 2: 36,895,449 (GRCm39) M59K probably damaging Het
Or2g7 G A 17: 38,378,506 (GRCm39) W148* probably null Het
Or8g31-ps1 T C 9: 39,276,775 (GRCm39) *307R probably null Het
Pcdh15 A T 10: 74,420,048 (GRCm39) K1235N probably damaging Het
Pcif1 A G 2: 164,726,251 (GRCm39) K51E probably damaging Het
Pde1b G A 15: 103,429,752 (GRCm39) D82N probably damaging Het
Phf23 T A 11: 69,889,467 (GRCm39) V167E possibly damaging Het
Pik3c2g T C 6: 139,913,620 (GRCm39) V1006A unknown Het
Pira12 T A 7: 3,901,103 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,452,882 (GRCm39) V3936F probably damaging Het
Pnpla1 T C 17: 29,100,159 (GRCm39) V342A probably benign Het
Ppip5k1 T C 2: 121,171,329 (GRCm39) D620G possibly damaging Het
Ppl A G 16: 4,907,205 (GRCm39) L1030P possibly damaging Het
Prelid1 A T 13: 55,469,088 (GRCm39) probably benign Het
Racgap1 C T 15: 99,529,081 (GRCm39) S264N probably benign Het
Rdh13 T C 7: 4,430,696 (GRCm39) D289G probably benign Het
Rtp3 T C 9: 110,815,364 (GRCm39) I334V probably benign Het
Setd2 A T 9: 110,392,012 (GRCm39) D200V Het
Simc1 A G 13: 54,651,731 (GRCm39) S15G unknown Het
Sirpb1c A T 3: 15,887,389 (GRCm39) M150K probably benign Het
Smoc1 T A 12: 81,197,475 (GRCm39) D202E probably damaging Het
Spata31d1b A G 13: 59,860,304 (GRCm39) Y59C probably damaging Het
Stard9 A G 2: 120,528,761 (GRCm39) T1673A probably damaging Het
Tbc1d31 T A 15: 57,779,504 (GRCm39) H72Q probably benign Het
Tgfbrap1 C A 1: 43,114,693 (GRCm39) V136L probably damaging Het
Top2b A G 14: 16,407,376 (GRCm38) N720S probably null Het
Vmn1r11 T C 6: 57,115,184 (GRCm39) S283P probably damaging Het
Vmn1r19 A G 6: 57,382,080 (GRCm39) H211R probably damaging Het
Vmn2r44 A T 7: 8,370,538 (GRCm39) M836K probably benign Het
Vmn2r61 A C 7: 41,915,407 (GRCm39) H118P probably benign Het
Vps33a A G 5: 123,696,696 (GRCm39) I319T probably benign Het
Vwf T A 6: 125,543,220 (GRCm39) S151T Het
Zfp423 T C 8: 88,508,871 (GRCm39) N491S possibly damaging Het
Zfp626 T C 7: 27,507,660 (GRCm39) F23S probably 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
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
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'- AAGGGTCTCTCACTGACTGG -3'
(R):5'- TGCAGTAAAGGAGGTTCTGG -3'

Sequencing Primer
(F):5'- GTCAGTAATTCCATGAAATCTTGCCC -3'
(R):5'- TGGGAAAAGGATGGATTTTCAGTTAC -3'
Posted On 2019-09-13