Incidental Mutation 'R0144:Dock5'
ID 22530
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 038429-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R0144 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68023735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1142 (G1142D)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: G1142D

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: G1142D

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 0.0827 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.0%
Validation Efficiency 100% (90/90)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,652,739 (GRCm39) probably null Het
Acp6 T A 3: 97,073,145 (GRCm39) probably benign Het
AI661453 A T 17: 47,780,224 (GRCm39) probably benign Het
Aox1 A G 1: 58,109,233 (GRCm39) I674V probably benign Het
Armc2 A T 10: 41,823,883 (GRCm39) probably benign Het
Atp8b1 G C 18: 64,704,445 (GRCm39) probably benign Het
Baz2b A T 2: 59,737,839 (GRCm39) N1823K probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Brca1 A T 11: 101,416,947 (GRCm39) S396T probably damaging Het
Btnl6 G T 17: 34,732,994 (GRCm39) R290S probably benign Het
Casp8ap2 A G 4: 32,643,797 (GRCm39) R957G possibly damaging Het
Ccdc13 A G 9: 121,656,417 (GRCm39) L132P probably damaging Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Ceacam15 G T 7: 16,407,116 (GRCm39) H134N probably benign Het
Cep170 T C 1: 176,620,161 (GRCm39) I46V probably benign Het
Cfap57 T C 4: 118,441,902 (GRCm39) D722G probably damaging Het
Col11a1 A T 3: 113,907,243 (GRCm39) D628V unknown Het
Csmd1 A T 8: 16,441,838 (GRCm39) V342E probably benign Het
Dennd1a A G 2: 38,016,652 (GRCm39) V64A probably damaging Het
Dlec1 G T 9: 118,971,934 (GRCm39) G1345V probably benign Het
Dnah1 G A 14: 30,989,831 (GRCm39) probably benign Het
Etv2 C A 7: 30,334,308 (GRCm39) A142S probably benign Het
Fam110c C A 12: 31,124,500 (GRCm39) T154K unknown Het
Fbxo17 C G 7: 28,434,765 (GRCm39) D183E probably damaging Het
Fbxo30 T A 10: 11,170,964 (GRCm39) W681R probably damaging Het
Fig4 A G 10: 41,134,045 (GRCm39) Y413H probably damaging Het
Gab1 A G 8: 81,511,830 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,510,411 (GRCm39) M1T probably null Het
H2-M10.6 G A 17: 37,123,133 (GRCm39) C22Y probably damaging Het
Igfn1 T C 1: 135,889,751 (GRCm39) D2432G probably damaging Het
Il13 T C 11: 53,524,003 (GRCm39) D60G possibly damaging Het
Iqgap1 A G 7: 80,401,668 (GRCm39) L479P probably damaging Het
Itpr2 T A 6: 146,228,653 (GRCm39) Q1314L probably damaging Het
Jrk C T 15: 74,578,005 (GRCm39) G427S probably benign Het
Kcnb1 T G 2: 166,946,467 (GRCm39) N794H probably damaging Het
Klhl8 A T 5: 104,015,804 (GRCm39) S361R probably benign Het
Krt87 T C 15: 101,336,542 (GRCm39) Y37C probably benign Het
Lbp A T 2: 158,161,630 (GRCm39) S231C probably damaging Het
Lpin2 A G 17: 71,532,071 (GRCm39) E142G probably damaging Het
Lrch4 G A 5: 137,636,805 (GRCm39) probably null Het
Lypd11 A G 7: 24,423,015 (GRCm39) V101A possibly damaging Het
Manea A G 4: 26,340,719 (GRCm39) M81T probably benign Het
Mcm3ap A G 10: 76,316,849 (GRCm39) T618A probably benign Het
Me3 A G 7: 89,389,080 (GRCm39) D128G probably damaging Het
Mix23 A T 16: 35,905,484 (GRCm39) N92I possibly damaging Het
Mug2 A G 6: 122,047,970 (GRCm39) probably benign Het
Myo9b A T 8: 71,798,687 (GRCm39) Q901L probably damaging Het
Nalcn T C 14: 123,608,948 (GRCm39) R640G probably damaging Het
Nalcn C T 14: 123,647,251 (GRCm39) probably benign Het
Ncor1 T C 11: 62,283,421 (GRCm39) N422S probably damaging Het
Nf1 T A 11: 79,437,953 (GRCm39) Y88N probably damaging Het
Nrxn3 G A 12: 89,315,162 (GRCm39) A358T probably damaging Het
Or52s1 A T 7: 102,861,747 (GRCm39) I216F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p62 T C 7: 107,771,178 (GRCm39) I258V probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pld5 T C 1: 175,798,107 (GRCm39) N431D probably benign Het
Prss28 G A 17: 25,528,424 (GRCm39) V16M probably damaging Het
Psmd2 T A 16: 20,480,975 (GRCm39) probably null Het
Ptpn21 A T 12: 98,654,868 (GRCm39) S700T probably benign Het
Rasa2 A T 9: 96,474,072 (GRCm39) V152D probably damaging Het
Reln G T 5: 22,153,447 (GRCm39) R2286S probably damaging Het
Rflnb G T 11: 75,915,789 (GRCm39) P102Q probably damaging Het
Rin2 G A 2: 145,718,559 (GRCm39) V680I probably damaging Het
Rnf213 A T 11: 119,370,426 (GRCm39) K4742* probably null Het
Rpp40 A T 13: 36,085,352 (GRCm39) S143T probably benign Het
Rps12 A G 10: 23,662,689 (GRCm39) I51T probably benign Het
Rsf1 T A 7: 97,285,614 (GRCm39) W109R probably damaging Het
Sipa1l2 C T 8: 126,176,615 (GRCm39) probably null Het
Tspan5 G T 3: 138,604,109 (GRCm39) V165L probably damaging Het
Uts2r T A 11: 121,052,291 (GRCm39) V385E probably benign Het
Vma21-ps T A 4: 52,497,231 (GRCm39) D5V possibly damaging Het
Vmn2r62 T A 7: 42,438,440 (GRCm39) N132I probably damaging Het
Zfp622 T C 15: 25,991,665 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,655,671 (GRCm39) K766R 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
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
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'- ACACAGGTGCCACCATCAGTTC -3'
(R):5'- ATTTGCTTTCATTTCAGGGCCACAC -3'

Sequencing Primer
(F):5'- ATCTTCCTGAGACAGTGCTAAC -3'
(R):5'- TTCATTTCAGGGCCACACAAAATC -3'
Posted On 2013-04-16