Mutagenetix > Incidental Mutations

Incidental Mutation 'R2252:Dock5'

241774

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

040252-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R2252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67784812 bp

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]

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,612	S79F	probably damaging	Het
Acaca	G	T	11: 84,371,532	V1987L	probably damaging	Het
B3gnt3	A	T	8: 71,692,818	M302K	probably damaging	Het
BC048507	T	C	13: 67,863,507	M1T	probably null	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Casp3	G	T	8: 46,637,955	W214L	probably damaging	Het
Cd180	A	T	13: 102,706,398	K651*	probably null	Het
Cdh15	T	A	8: 122,857,422	D87E	probably damaging	Het
Cldn24	G	T	8: 47,822,328	R62S	probably benign	Het
Cnot1	A	G	8: 95,763,186	V463A	probably benign	Het
Cspg4	C	T	9: 56,898,046	T2047I	probably damaging	Het
Cul2	A	T	18: 3,399,876	L3F	probably damaging	Het
Cwc27	A	T	13: 104,631,729	H419Q	probably damaging	Het
Dgkg	A	T	16: 22,622,260	M1K	probably null	Het
Drc1	G	T	5: 30,342,731	V103F	probably benign	Het
Ep400	A	T	5: 110,719,091	N1062K	unknown	Het
Faap20	A	C	4: 155,250,553	E37A	possibly damaging	Het
Foxa2	A	G	2: 148,044,166	F243S	probably damaging	Het
Gzf1	T	C	2: 148,683,936	M109T	probably damaging	Het
Itch	T	A	2: 155,212,339	M701K	probably benign	Het
Kpna1	T	C	16: 36,021,569	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,737,637		probably null	Het
Lrrc37a	T	C	11: 103,501,467	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,466,368	I116N	probably damaging	Het
Mbd5	A	G	2: 49,257,686	E636G	probably damaging	Het
Mrpl40	T	C	16: 18,875,375	H29R	probably benign	Het
Nrip1	T	C	16: 76,291,285	Y1128C	probably damaging	Het
Olfr1279	A	G	2: 111,306,310	Y35C	probably damaging	Het
Olfr143	A	G	9: 38,253,830	I135V	probably benign	Het
Olfr958	G	T	9: 39,549,977	A298D	probably damaging	Het
Olfr988	A	G	2: 85,353,858	S23P	possibly damaging	Het
Pard3	A	T	8: 127,610,599	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,890,879	E628G	probably benign	Het
Pcsk1	C	A	13: 75,126,726	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,057,438	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,910,520	N270D	probably benign	Het
Plcb2	T	C	2: 118,723,765	N69S	probably benign	Het
Reep1	T	A	6: 71,756,442		probably null	Het
Sash1	A	T	10: 8,729,977	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept4	A	G	11: 87,589,811	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,155,478	I231M	possibly damaging	Het
Serping1	A	G	2: 84,769,851	S322P	probably damaging	Het
Slc7a2	T	C	8: 40,905,621	Y334H	probably benign	Het
Spink5	G	T	18: 44,020,824	E1013*	probably null	Het
Thoc3	A	T	13: 54,467,833	N139K	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,130,215	I7F	possibly damaging	Het
Upf2	A	G	2: 5,961,460	D297G	unknown	Het
Vmn2r18	T	C	5: 151,584,976	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,080,436	S567R	probably benign	Het
Vwa5a	T	C	9: 38,728,080	I369T	probably damaging	Het
Yjefn3	A	C	8: 69,889,445	F42V	probably damaging	Het
Zfp472	A	T	17: 32,976,283	R69*	probably null	Het
Zfp536	T	C	7: 37,479,389	S200G	probably benign	Het
Zfp970	T	A	2: 177,474,821		probably null	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	67786889	splice site	probably benign
IGL00930:Dock5	APN	14	67771077	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	67805720	splice site	probably benign
IGL01759:Dock5	APN	14	67881259	nonsense	probably null
IGL01941:Dock5	APN	14	67812232	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	67763287	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	67839543	splice site	probably benign
IGL02179:Dock5	APN	14	67806496	splice site	probably benign
IGL02208:Dock5	APN	14	67828450	missense	probably benign	0.06
IGL02605:Dock5	APN	14	67828438	missense	probably benign	0.18
IGL02608:Dock5	APN	14	67828439	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67757218	splice site	probably benign
IGL02971:Dock5	APN	14	67757109	missense	probably null	1.00
IGL02983:Dock5	APN	14	67764670	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	67866067	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	67846086	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	67824674	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	67846081	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0112:Dock5	UTSW	14	67819641	missense	probably benign
R0127:Dock5	UTSW	14	67846042	missense	probably benign	0.13
R0144:Dock5	UTSW	14	67786286	missense	probably benign	0.18
R0312:Dock5	UTSW	14	67795991	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	67822680	splice site	probably benign
R0364:Dock5	UTSW	14	67822680	splice site	probably benign
R0496:Dock5	UTSW	14	67817518	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	67784792	splice site	probably benign
R0586:Dock5	UTSW	14	67809032	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	67784934	splice site	probably null
R0625:Dock5	UTSW	14	67841163	missense	probably benign
R1109:Dock5	UTSW	14	67806478	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67759161	missense	probably benign	0.00
R1278:Dock5	UTSW	14	67839566	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	67846062	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67757135	nonsense	probably null
R1946:Dock5	UTSW	14	67786316	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	67812142	missense	probably benign
R2101:Dock5	UTSW	14	67794010	missense	probably benign	0.02
R2882:Dock5	UTSW	14	67839620	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67756492	missense	probably benign	0.02
R4242:Dock5	UTSW	14	67828490	missense	probably benign	0.19
R4244:Dock5	UTSW	14	67774582	missense	probably benign	0.41
R4646:Dock5	UTSW	14	67842779	missense	probably benign	0.01
R4793:Dock5	UTSW	14	67800354	missense	probably benign	0.26
R4841:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	67792289	missense	probably benign	0.04
R5164:Dock5	UTSW	14	67817661	nonsense	probably null
R5206:Dock5	UTSW	14	67763184	missense	probably benign	0.35
R5207:Dock5	UTSW	14	67776284	missense	probably benign	0.06
R5322:Dock5	UTSW	14	67770266	missense	probably benign	0.41
R5374:Dock5	UTSW	14	67805756	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	67764655	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	67814007	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	67803086	missense	probably benign	0.01
R5677:Dock5	UTSW	14	67777603	missense	probably benign	0.00
R5773:Dock5	UTSW	14	67796058	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	67841101	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	67857994	missense	probably benign
R6154:Dock5	UTSW	14	67859912	missense	probably benign	0.03
R6268:Dock5	UTSW	14	67790275	nonsense	probably null
R6393:Dock5	UTSW	14	67822602	missense	probably benign	0.32
R6512:Dock5	UTSW	14	67824648	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	67795996	missense	probably benign	0.00
R7012:Dock5	UTSW	14	67822586	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	67770254	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67756470	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	67771702	nonsense	probably null
R7311:Dock5	UTSW	14	67828502	missense	probably benign	0.25
R7359:Dock5	UTSW	14	67765888	missense	probably benign	0.10
R7422:Dock5	UTSW	14	67809030	missense	probably benign	0.01
R7588:Dock5	UTSW	14	67763158	critical splice donor site	probably null
R7637:Dock5	UTSW	14	67786340	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	67796005	missense	probably benign	0.44
R7763:Dock5	UTSW	14	67821327	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	67824692	missense	probably damaging	1.00
R8076:Dock5	UTSW	14	67802977	splice site	probably null
R8168:Dock5	UTSW	14	67770197	splice site	probably null
X0023:Dock5	UTSW	14	67771088	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	67813933	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