Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Dock5'

402102

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

042782-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67776284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1330 (S1330G)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039135]

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: S1330G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: S1330G

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

0.0961

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,793,594		probably benign	Het
Alg6	C	T	4: 99,719,194	L15F	possibly damaging	Het
Allc	T	A	12: 28,555,326	M325L	probably benign	Het
Ap3b2	T	C	7: 81,476,769	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,115,921		probably benign	Het
Borcs6	A	T	11: 69,060,848	T351S	probably damaging	Het
Casc1	A	T	6: 145,179,068	D510E	probably damaging	Het
Ccar1	T	C	10: 62,753,281	R808G	unknown	Het
Celsr3	A	T	9: 108,832,759	T1480S	probably benign	Het
Chdh	C	T	14: 30,031,361	P76S	probably damaging	Het
Chmp7	T	C	14: 69,732,306	S62G	probably benign	Het
Cldn23	A	T	8: 35,826,028	V102E	probably damaging	Het
Csn2	G	A	5: 87,694,962	Q69*	probably null	Het
Ctrc	A	C	4: 141,840,384	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,029,511	L253R	probably damaging	Het
Ddr2	G	A	1: 169,984,961	T654M	probably damaging	Het
Derl2	G	T	11: 71,019,247		probably null	Het
Emp3	T	C	7: 45,919,949	N56S	probably benign	Het
Fam161a	A	T	11: 23,020,583	K195*	probably null	Het
Fam71b	T	C	11: 46,405,163	S121P	probably benign	Het
Ficd	T	A	5: 113,737,011	V47E	probably benign	Het
Gbp10	T	C	5: 105,224,709	T123A	probably benign	Het
Gdf7	C	T	12: 8,298,371	A309T	unknown	Het
Gm14486	G	T	2: 30,658,560		noncoding transcript	Het
Herc1	T	A	9: 66,399,869	C990*	probably null	Het
Itgb4	T	C	11: 116,006,539	V1530A	probably damaging	Het
Itpka	G	A	2: 119,750,493	R374H	probably damaging	Het
Lacc1	T	A	14: 77,034,154		probably null	Het
Med23	A	T	10: 24,895,836	K225*	probably null	Het
Mrgpra3	T	A	7: 47,590,161	T6S	probably benign	Het
Mroh7	T	A	4: 106,721,386	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,469,751	R207G	probably damaging	Het
Mup20	A	C	4: 62,051,586		probably null	Het
Nagpa	A	G	16: 5,199,614		probably null	Het
Nek3	A	T	8: 22,132,227		probably benign	Het
Nes	G	A	3: 87,978,628	G1398E	probably damaging	Het
Nf1	G	T	11: 79,454,189	V1323L	probably damaging	Het
Olfr1416	A	T	1: 92,479,872	F250I	probably benign	Het
Olfr1446	T	A	19: 12,890,437	I47F	probably benign	Het
Olfr791	T	C	10: 129,526,904	F226L	probably benign	Het
Paqr8	G	T	1: 20,935,258	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,266,462	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,392,517	K683E	probably damaging	Het
Pjvk	A	C	2: 76,650,390		probably null	Het
Pkd1l3	A	T	8: 109,633,191	S893C	probably damaging	Het
Plxna2	A	G	1: 194,788,899	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,688,352	I247N	probably damaging	Het
Rac2	T	C	15: 78,565,454	N92S	probably damaging	Het
Senp2	A	T	16: 22,041,380	H501L	possibly damaging	Het
Snx29	A	T	16: 11,738,363	I753F	probably damaging	Het
Tcf20	T	A	15: 82,856,185	H355L	probably damaging	Het
Tex2	T	C	11: 106,546,840	D668G	unknown	Het
Tlr12	G	A	4: 128,616,709	Q583*	probably null	Het
Tmem119	T	C	5: 113,795,228	I171V	probably damaging	Het
Ube2m	C	T	7: 13,036,322		probably null	Het
Vmn2r25	A	T	6: 123,840,103	I173N	probably damaging	Het
Whrn	A	T	4: 63,432,714	V15E	probably damaging	Het
Zfp558	A	C	9: 18,457,000	V164G	possibly damaging	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
R2101:Dock5	UTSW	14	67,794,010 (GRCm38)	missense	probably benign	0.02
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
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'- GGGACTTCTTTGAGGACAACC -3'
(R):5'- AGCCTGCTGACTGCTTAGTTTC -3'

Sequencing Primer
(F):5'- CCTGGAGAACAATGGTCAAAGCTTTG -3'
(R):5'- CAGTTATTCTCTGGGGAGGTAACC -3'

Posted On

2016-07-22