Mutagenetix > Incidental Mutation

Incidental Mutation 'R2101:Dock5'

230527

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

040105-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67794010 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,566,862 (GRCm38)	A46T	probably benign	Het
Agap3	T	A	5: 24,487,799 (GRCm38)	L47Q	probably damaging	Het
Apaf1	T	G	10: 91,060,080 (GRCm38)	I377L	probably benign	Het
Astn2	G	A	4: 65,581,686 (GRCm38)	R937*	probably null	Het
Cacnb1	A	C	11: 98,005,728 (GRCm38)	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 180,146,968 (GRCm38)	V1464L	probably benign	Het
Cdkn2aip	A	T	8: 47,713,001 (GRCm38)	M90K	probably damaging	Het
Chd3	A	T	11: 69,349,051 (GRCm38)	D1650E	probably benign	Het
Chd9	C	T	8: 91,033,987 (GRCm38)	P2120L	probably benign	Het
Clca3a2	T	C	3: 145,077,938 (GRCm38)	T639A	probably damaging	Het
Cluh	G	T	11: 74,660,502 (GRCm38)		probably benign	Het
Cnga1	C	T	5: 72,619,061 (GRCm38)	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,052,169 (GRCm38)	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,242,443 (GRCm38)	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 104,148,830 (GRCm38)	V2084A	probably damaging	Het
Dcc	G	A	18: 71,810,870 (GRCm38)	H237Y	possibly damaging	Het
Ddx60	T	A	8: 61,940,645 (GRCm38)	F38L	probably damaging	Het
Dio2	T	C	12: 90,729,823 (GRCm38)	*130W	probably null	Het
Dpy19l1	A	T	9: 24,482,035 (GRCm38)	V146E	probably damaging	Het
Dscam	T	C	16: 96,610,349 (GRCm38)	T1776A	probably benign	Het
Enpep	C	T	3: 129,298,938 (GRCm38)	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025 (GRCm38)	D369G	probably damaging	Het
Gtf2b	T	C	3: 142,771,383 (GRCm38)		probably benign	Het
Hmbox1	A	G	14: 64,828,579 (GRCm38)		probably benign	Het
Hps3	C	A	3: 20,012,783 (GRCm38)	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,806,237 (GRCm38)	I249F	possibly damaging	Het
Hunk	T	A	16: 90,432,500 (GRCm38)		probably null	Het
Kidins220	T	A	12: 25,057,423 (GRCm38)	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,846,187 (GRCm38)	G543S	unknown	Het
Myo10	T	A	15: 25,722,259 (GRCm38)	L186Q	probably benign	Het
N4bp2	T	A	5: 65,790,881 (GRCm38)	W285R	probably damaging	Het
Nat8l	T	C	5: 33,998,372 (GRCm38)	L124P	probably damaging	Het
Nemp2	T	C	1: 52,641,066 (GRCm38)		probably null	Het
Nkain2	G	A	10: 32,329,817 (GRCm38)	T74I	possibly damaging	Het
Nol4	A	G	18: 22,823,409 (GRCm38)	S239P	probably damaging	Het
Or4c118	T	A	2: 89,144,957 (GRCm38)	E22V	probably benign	Het
Pcbp3	T	C	10: 76,789,755 (GRCm38)	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,175,605 (GRCm38)	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,415,368 (GRCm38)	N135D	probably damaging	Het
Plb1	T	A	5: 32,349,660 (GRCm38)	M1193K	probably damaging	Het
Prc1	T	C	7: 80,312,284 (GRCm38)	V73A	probably benign	Het
Prkd2	T	A	7: 16,869,565 (GRCm38)	W807R	probably damaging	Het
Prp2rt	G	T	13: 97,099,222 (GRCm38)	R6S	probably damaging	Het
Ptprb	C	T	10: 116,315,038 (GRCm38)		probably benign	Het
Rb1cc1	A	G	1: 6,249,335 (GRCm38)	I993V	probably benign	Het
Rbp3	C	T	14: 33,956,018 (GRCm38)	T641M	probably damaging	Het
Rev3l	T	C	10: 39,828,096 (GRCm38)	V2046A	probably benign	Het
Rnpep	G	T	1: 135,271,617 (GRCm38)	N334K	probably damaging	Het
Sarm1	G	A	11: 78,475,289 (GRCm38)	P695S	probably damaging	Het
Sf3a3	C	T	4: 124,718,343 (GRCm38)	T131I	possibly damaging	Het
Slc38a10	A	T	11: 120,132,741 (GRCm38)	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,072,870 (GRCm38)	L552*	probably null	Het
Tas2r136	T	C	6: 132,777,532 (GRCm38)	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,181,121 (GRCm38)	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,301,639 (GRCm38)	F167S	probably damaging	Het
Tfeb	G	A	17: 47,789,665 (GRCm38)	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,888 (GRCm38)	F153L	probably benign	Het
Txnrd1	T	G	10: 82,881,739 (GRCm38)	L186V	probably damaging	Het
Upk1b	A	T	16: 38,780,137 (GRCm38)	C160*	probably null	Het
Uty	T	C	Y: 1,176,541 (GRCm38)	Q172R	probably damaging	Het
Vmn1r23	T	C	6: 57,926,452 (GRCm38)	K114E	possibly damaging	Het
Vmn2r99	T	G	17: 19,377,991 (GRCm38)	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,263,191 (GRCm38)	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,116,421 (GRCm38)	V547A	probably benign	Het
Zfp944	T	A	17: 22,339,828 (GRCm38)	N146I	probably benign	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	67,786,889 (GRCm38)	splice site	probably benign
IGL00930:Dock5	APN	14	67,771,077 (GRCm38)	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	67,805,720 (GRCm38)	splice site	probably benign
IGL01759:Dock5	APN	14	67,881,259 (GRCm38)	nonsense	probably null
IGL01941:Dock5	APN	14	67,812,232 (GRCm38)	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	67,763,287 (GRCm38)	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	67,839,543 (GRCm38)	splice site	probably benign
IGL02179:Dock5	APN	14	67,806,496 (GRCm38)	splice site	probably benign
IGL02208:Dock5	APN	14	67,828,450 (GRCm38)	missense	probably benign	0.06
IGL02605:Dock5	APN	14	67,828,438 (GRCm38)	missense	probably benign	0.18
IGL02608:Dock5	APN	14	67,828,439 (GRCm38)	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67,757,218 (GRCm38)	splice site	probably benign
IGL02971:Dock5	APN	14	67,757,109 (GRCm38)	missense	probably null	1.00
IGL02983:Dock5	APN	14	67,764,670 (GRCm38)	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	67,866,067 (GRCm38)	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	67,846,086 (GRCm38)	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	67,824,674 (GRCm38)	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	67,846,081 (GRCm38)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67,781,036 (GRCm38)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67,781,036 (GRCm38)	missense	probably benign	0.00
R0112:Dock5	UTSW	14	67,819,641 (GRCm38)	missense	probably benign
R0127:Dock5	UTSW	14	67,846,042 (GRCm38)	missense	probably benign	0.13
R0144:Dock5	UTSW	14	67,786,286 (GRCm38)	missense	probably benign	0.18
R0312:Dock5	UTSW	14	67,795,991 (GRCm38)	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	67,822,680 (GRCm38)	splice site	probably benign
R0364:Dock5	UTSW	14	67,822,680 (GRCm38)	splice site	probably benign
R0496:Dock5	UTSW	14	67,817,518 (GRCm38)	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	67,784,792 (GRCm38)	splice site	probably benign
R0586:Dock5	UTSW	14	67,809,032 (GRCm38)	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	67,784,934 (GRCm38)	splice site	probably null
R0625:Dock5	UTSW	14	67,841,163 (GRCm38)	missense	probably benign
R1109:Dock5	UTSW	14	67,806,478 (GRCm38)	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67,759,161 (GRCm38)	missense	probably benign	0.00
R1278:Dock5	UTSW	14	67,839,566 (GRCm38)	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	67,846,062 (GRCm38)	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67,757,135 (GRCm38)	nonsense	probably null
R1946:Dock5	UTSW	14	67,786,316 (GRCm38)	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	67,812,142 (GRCm38)	missense	probably benign
R2252:Dock5	UTSW	14	67,784,812 (GRCm38)	missense	probably damaging	0.98
R2882:Dock5	UTSW	14	67,839,620 (GRCm38)	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	67,857,922 (GRCm38)	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	67,857,922 (GRCm38)	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67,756,492 (GRCm38)	missense	probably benign	0.02
R4242:Dock5	UTSW	14	67,828,490 (GRCm38)	missense	probably benign	0.19
R4244:Dock5	UTSW	14	67,774,582 (GRCm38)	missense	probably benign	0.41
R4646:Dock5	UTSW	14	67,842,779 (GRCm38)	missense	probably benign	0.01
R4793:Dock5	UTSW	14	67,800,354 (GRCm38)	missense	probably benign	0.26
R4841:Dock5	UTSW	14	67,817,563 (GRCm38)	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	67,817,563 (GRCm38)	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	67,792,289 (GRCm38)	missense	probably benign	0.04
R5164:Dock5	UTSW	14	67,817,661 (GRCm38)	nonsense	probably null
R5206:Dock5	UTSW	14	67,763,184 (GRCm38)	missense	probably benign	0.35
R5207:Dock5	UTSW	14	67,776,284 (GRCm38)	missense	probably benign	0.06
R5322:Dock5	UTSW	14	67,770,266 (GRCm38)	missense	probably benign	0.41
R5374:Dock5	UTSW	14	67,805,756 (GRCm38)	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	67,764,655 (GRCm38)	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	67,814,007 (GRCm38)	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	67,803,086 (GRCm38)	missense	probably benign	0.01
R5677:Dock5	UTSW	14	67,777,603 (GRCm38)	missense	probably benign	0.00
R5773:Dock5	UTSW	14	67,796,058 (GRCm38)	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	67,841,101 (GRCm38)	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	67,857,994 (GRCm38)	missense	probably benign
R6154:Dock5	UTSW	14	67,859,912 (GRCm38)	missense	probably benign	0.03
R6268:Dock5	UTSW	14	67,790,275 (GRCm38)	nonsense	probably null
R6393:Dock5	UTSW	14	67,822,602 (GRCm38)	missense	probably benign	0.32
R6512:Dock5	UTSW	14	67,824,648 (GRCm38)	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	67,795,996 (GRCm38)	missense	probably benign	0.00
R7012:Dock5	UTSW	14	67,822,586 (GRCm38)	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	67,770,254 (GRCm38)	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67,756,470 (GRCm38)	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	67,771,702 (GRCm38)	nonsense	probably null
R7311:Dock5	UTSW	14	67,828,502 (GRCm38)	missense	probably benign	0.25
R7359:Dock5	UTSW	14	67,765,888 (GRCm38)	missense	probably benign	0.10
R7422:Dock5	UTSW	14	67,809,030 (GRCm38)	missense	probably benign	0.01
R7588:Dock5	UTSW	14	67,763,158 (GRCm38)	critical splice donor site	probably null
R7637:Dock5	UTSW	14	67,786,340 (GRCm38)	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	67,796,005 (GRCm38)	missense	probably benign	0.44
R7763:Dock5	UTSW	14	67,821,327 (GRCm38)	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	67,824,692 (GRCm38)	missense	probably damaging	1.00
R8076:Dock5	UTSW	14	67,802,977 (GRCm38)	splice site	probably null
R8168:Dock5	UTSW	14	67,770,197 (GRCm38)	splice site	probably null
R8353:Dock5	UTSW	14	67,817,508 (GRCm38)	splice site	probably null
R8480:Dock5	UTSW	14	67,836,410 (GRCm38)	missense	probably benign	0.32
R8535:Dock5	UTSW	14	67,793,976 (GRCm38)	missense	probably benign	0.19
R8708:Dock5	UTSW	14	67,767,371 (GRCm38)	missense	probably benign	0.02
R8732:Dock5	UTSW	14	67,846,000 (GRCm38)	missense	possibly damaging	0.85
R8888:Dock5	UTSW	14	67,817,663 (GRCm38)	missense	possibly damaging	0.95
R8895:Dock5	UTSW	14	67,817,663 (GRCm38)	missense	possibly damaging	0.95
R8936:Dock5	UTSW	14	67,845,990 (GRCm38)	nonsense	probably null
R8962:Dock5	UTSW	14	67,757,191 (GRCm38)	missense	probably benign
R8972:Dock5	UTSW	14	67,776,300 (GRCm38)	missense	probably damaging	1.00
R9244:Dock5	UTSW	14	67,759,114 (GRCm38)	missense	probably damaging	0.99
R9345:Dock5	UTSW	14	67,822,622 (GRCm38)	missense	possibly damaging	0.74
R9679:Dock5	UTSW	14	67,781,001 (GRCm38)	missense	probably damaging	1.00
X0023:Dock5	UTSW	14	67,771,088 (GRCm38)	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	67,813,933 (GRCm38)	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