Incidental Mutation 'R2101:Dock5'
ID 230527
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 040105-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R2101 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68031459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 990 (F990L)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: F990L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: F990L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G A 2: 103,397,207 (GRCm39) A46T probably benign Het
Agap3 T A 5: 24,692,797 (GRCm39) L47Q probably damaging Het
Apaf1 T G 10: 90,895,942 (GRCm39) I377L probably benign Het
Astn2 G A 4: 65,499,923 (GRCm39) R937* probably null Het
Cacnb1 A C 11: 97,896,554 (GRCm39) V369G probably damaging Het
Cdc42bpa G T 1: 179,974,533 (GRCm39) V1464L probably benign Het
Cdkn2aip A T 8: 48,166,036 (GRCm39) M90K probably damaging Het
Chd3 A T 11: 69,239,877 (GRCm39) D1650E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a2 T C 3: 144,783,699 (GRCm39) T639A probably damaging Het
Cluh G T 11: 74,551,328 (GRCm39) probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Col11a2 A T 17: 34,271,143 (GRCm39) D528V probably damaging Het
Cyfip2 A G 11: 46,133,270 (GRCm39) L810P probably damaging Het
D430041D05Rik A G 2: 103,979,175 (GRCm39) V2084A probably damaging Het
Dcc G A 18: 71,943,941 (GRCm39) H237Y possibly damaging Het
Ddx60 T A 8: 62,393,679 (GRCm39) F38L probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dpy19l1 A T 9: 24,393,331 (GRCm39) V146E probably damaging Het
Dscam T C 16: 96,411,549 (GRCm39) T1776A probably benign Het
Enpep C T 3: 129,092,587 (GRCm39) S532N probably benign Het
Gdf6 A G 4: 9,860,025 (GRCm39) D369G probably damaging Het
Gtf2b T C 3: 142,477,144 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,066,028 (GRCm39) probably benign Het
Hps3 C A 3: 20,066,947 (GRCm39) V540F possibly damaging Het
Hsd3b6 T A 3: 98,713,553 (GRCm39) I249F possibly damaging Het
Hunk T A 16: 90,229,388 (GRCm39) probably null Het
Kidins220 T A 12: 25,107,422 (GRCm39) L1625Q probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Myo10 T A 15: 25,722,345 (GRCm39) L186Q probably benign Het
N4bp2 T A 5: 65,948,224 (GRCm39) W285R probably damaging Het
Nat8l T C 5: 34,155,716 (GRCm39) L124P probably damaging Het
Nemp2 T C 1: 52,680,225 (GRCm39) probably null Het
Nkain2 G A 10: 32,205,813 (GRCm39) T74I possibly damaging Het
Nol4 A G 18: 22,956,466 (GRCm39) S239P probably damaging Het
Or4c118 T A 2: 88,975,301 (GRCm39) E22V probably benign Het
Pcbp3 T C 10: 76,625,589 (GRCm39) I152V possibly damaging Het
Pcp4l1 G T 1: 171,003,174 (GRCm39) P10Q probably damaging Het
Pla1a T C 16: 38,235,730 (GRCm39) N135D probably damaging Het
Plb1 T A 5: 32,507,004 (GRCm39) M1193K probably damaging Het
Prc1 T C 7: 79,962,032 (GRCm39) V73A probably benign Het
Prkd2 T A 7: 16,603,490 (GRCm39) W807R probably damaging Het
Prp2rt G T 13: 97,235,730 (GRCm39) R6S probably damaging Het
Ptprb C T 10: 116,150,943 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,559 (GRCm39) I993V probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rev3l T C 10: 39,704,092 (GRCm39) V2046A probably benign Het
Rnpep G T 1: 135,199,355 (GRCm39) N334K probably damaging Het
Sarm1 G A 11: 78,366,115 (GRCm39) P695S probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Slc38a10 A T 11: 120,023,567 (GRCm39) V283E probably damaging Het
Slco6c1 A T 1: 97,000,595 (GRCm39) L552* probably null Het
Tas2r136 T C 6: 132,754,495 (GRCm39) M211V probably benign Het
Tax1bp3 G A 11: 73,071,947 (GRCm39) D65N probably damaging Het
Tdrd5 A G 1: 156,129,209 (GRCm39) F167S probably damaging Het
Tfeb G A 17: 48,100,590 (GRCm39) V269M probably damaging Het
Tspan12 A T 6: 21,799,887 (GRCm39) F153L probably benign Het
Txnrd1 T G 10: 82,717,573 (GRCm39) L186V probably damaging Het
Upk1b A T 16: 38,600,499 (GRCm39) C160* probably null Het
Uty T C Y: 1,176,541 (GRCm39) Q172R probably damaging Het
Vmn1r23 T C 6: 57,903,437 (GRCm39) K114E possibly damaging Het
Vmn2r99 T G 17: 19,598,253 (GRCm39) N92K probably damaging Het
Vstm2a T A 11: 16,213,191 (GRCm39) M192K probably benign Het
Zc3h12c A G 9: 52,027,721 (GRCm39) V547A probably benign Het
Zfp944 T A 17: 22,558,809 (GRCm39) N146I 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
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
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'- ACCCAGTTTATGAGTGCCAGG -3'
(R):5'- GGCCAAGCTTAGATTACATCATGTC -3'

Sequencing Primer
(F):5'- CCAGTTTATGAGTGCCAGGTATGAG -3'
(R):5'- CAGTTATATAGAAGAATGCGCTGTCC -3'
Posted On 2014-09-18