Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Cog2'

51749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cog2

Ensembl Gene

ENSMUSG00000031979

Gene Name

component of oligomeric golgi complex 2

Synonyms

2700012E02Rik, 1190002B08Rik, Cog2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124545280 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 511 (D511G)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034460]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034460
AA Change: D511G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: D511G

Domain	Start	End	E-Value	Type
Pfam:COG2	15	147	1.4e-44	PFAM
low complexity region	207	220	N/A	INTRINSIC
low complexity region	490	502	N/A	INTRINSIC
Pfam:DUF3510	565	692	6.1e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129977

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Cog2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Cog2	APN	8	124545243	missense	probably benign	0.00
IGL01150:Cog2	APN	8	124542891	missense	possibly damaging	0.62
IGL02052:Cog2	APN	8	124542888	critical splice acceptor site	probably null
IGL02308:Cog2	APN	8	124533212	critical splice acceptor site	probably null
IGL02543:Cog2	APN	8	124529959	missense	probably benign	0.09
IGL02978:Cog2	APN	8	124550336	missense	probably benign
IGL03008:Cog2	APN	8	124535392	splice site	probably benign
IGL03144:Cog2	APN	8	124541024	missense	probably damaging	0.98
kugge	UTSW	8	124550232	missense	probably damaging	1.00
Pelota	UTSW	8	124550306	missense	probably damaging	1.00
PIT4677001:Cog2	UTSW	8	124545271	missense	probably benign	0.22
R0071:Cog2	UTSW	8	124548668	splice site	probably benign
R0071:Cog2	UTSW	8	124548668	splice site	probably benign
R0110:Cog2	UTSW	8	124529058	critical splice donor site	probably null
R0436:Cog2	UTSW	8	124548514	splice site	probably benign
R0450:Cog2	UTSW	8	124529058	critical splice donor site	probably null
R1365:Cog2	UTSW	8	124540974	missense	probably damaging	0.97
R1661:Cog2	UTSW	8	124542890	missense	probably benign	0.20
R1698:Cog2	UTSW	8	124525683	missense	probably damaging	1.00
R1856:Cog2	UTSW	8	124551403	missense	possibly damaging	0.93
R2122:Cog2	UTSW	8	124528985	missense	possibly damaging	0.91
R2398:Cog2	UTSW	8	124529926	missense	probably benign	0.07
R3855:Cog2	UTSW	8	124530003	critical splice donor site	probably null
R4580:Cog2	UTSW	8	124545136	missense	probably benign	0.01
R4803:Cog2	UTSW	8	124535451	missense	probably damaging	0.96
R5316:Cog2	UTSW	8	124529040	missense	probably benign	0.14
R5346:Cog2	UTSW	8	124546631	missense	possibly damaging	0.94
R5394:Cog2	UTSW	8	124532529	missense	probably benign	0.00
R5395:Cog2	UTSW	8	124545221	missense	probably benign	0.00
R5738:Cog2	UTSW	8	124546038	missense	probably benign	0.03
R5861:Cog2	UTSW	8	124537878	missense	probably damaging	1.00
R5894:Cog2	UTSW	8	124545267	missense	probably benign	0.00
R5941:Cog2	UTSW	8	124546086	missense	probably benign
R6186:Cog2	UTSW	8	124546686	missense	probably damaging	1.00
R6400:Cog2	UTSW	8	124550306	missense	probably damaging	1.00
R6518:Cog2	UTSW	8	124527103	nonsense	probably null
R6558:Cog2	UTSW	8	124550232	missense	probably damaging	1.00
R6717:Cog2	UTSW	8	124525749	missense	probably damaging	1.00
R6902:Cog2	UTSW	8	124546691	missense	probably damaging	1.00
R6914:Cog2	UTSW	8	124545136	missense	probably benign	0.00
R6942:Cog2	UTSW	8	124545136	missense	probably benign	0.00
R7103:Cog2	UTSW	8	124541114	critical splice donor site	probably null
R7274:Cog2	UTSW	8	124535519	missense	possibly damaging	0.71
R7641:Cog2	UTSW	8	124537882	missense	probably damaging	0.96
R7674:Cog2	UTSW	8	124537882	missense	probably damaging	0.96
X0026:Cog2	UTSW	8	124546020	missense	possibly damaging	0.88

Posted On

2013-06-21