Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Cog2'

17993

Institutional Source

Beutler Lab

Gene Symbol

Cog2

Ensembl Gene

ENSMUSG00000031979

Gene Name

component of oligomeric golgi complex 2

Synonyms

2700012E02Rik, 1190002B08Rik, Cog2

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 124548668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

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

AlphaFold

Q921L5

Predicted Effect

probably benign
Transcript: ENSMUST00000034460

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.2%
3x: 84.4%
10x: 70.8%
20x: 43.5%

Validation Efficiency

93% (94/101)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 14,088,954	D11G	probably damaging	Het
Acrbp	T	C	6: 125,050,952		probably benign	Het
AI481877	A	G	4: 59,059,643	Y1006H	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Aox3	T	A	1: 58,171,891	C931*	probably null	Het
Apob	T	A	12: 8,002,111	V1184E	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Bccip	A	G	7: 133,714,231	D72G	probably damaging	Het
Bckdha	A	T	7: 25,630,443		probably null	Het
Cald1	C	T	6: 34,758,134		probably benign	Het
Cdk11b	T	C	4: 155,649,423		probably benign	Het
Cebpe	G	T	14: 54,710,604	R261S	probably damaging	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chil1	T	C	1: 134,185,279	Y150H	probably benign	Het
Chrnd	T	C	1: 87,192,837		probably benign	Het
Coro7	A	T	16: 4,670,527	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,596,821	T3525A	probably benign	Het
Fam227b	T	A	2: 126,124,074	N144Y	probably benign	Het
Fhod1	A	T	8: 105,337,225		probably null	Het
Folr1	A	G	7: 101,863,923		probably null	Het
Glis3	C	T	19: 28,263,855		probably benign	Het
Golgb1	G	A	16: 36,915,503	R1704Q	probably benign	Het
Helz2	T	C	2: 181,236,407	Y866C	probably damaging	Het
Kcnma1	C	T	14: 23,526,767	R236H	probably damaging	Het
Lct	C	T	1: 128,292,018	W1631*	probably null	Het
Limk1	G	T	5: 134,661,391	Q104K	probably benign	Het
Ly75	T	C	2: 60,321,819	K1130R	probably benign	Het
Mdm1	A	G	10: 118,146,796	E112G	probably damaging	Het
Myo7a	A	T	7: 98,056,830	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,264,045	Y118C	probably benign	Het
Olfr53	A	T	7: 140,652,257	I93F	probably benign	Het
Olfr716	A	G	7: 107,147,712	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,214,338		probably benign	Het
Pik3cb	A	T	9: 99,044,865	D886E	probably benign	Het
Pkhd1	T	A	1: 20,201,344	Y2995F	probably benign	Het
Raver2	C	T	4: 101,120,445		probably benign	Het
Sec22c	A	G	9: 121,692,913	F44L	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Sobp	A	G	10: 43,157,997	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,085,841	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,715,349	A104T	probably benign	Het
Spsb3	A	G	17: 24,887,904	D184G	probably damaging	Het
Sptan1	A	T	2: 30,003,342	K1148*	probably null	Het
Tdrd12	A	G	7: 35,529,246	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,223,578	T23A	probably benign	Het
Tra2b	A	T	16: 22,254,401		probably benign	Het
Tspan15	A	G	10: 62,203,070		probably benign	Het
Ttc41	A	G	10: 86,736,846	N694S	probably benign	Het
Ube3b	G	A	5: 114,419,497	G1014D	probably damaging	Het
Unc5d	A	G	8: 28,719,826	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,171,732	T514I	possibly 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
IGL01092:Cog2	APN	8	124545280	missense	probably damaging	1.00
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
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
R8559:Cog2	UTSW	8	124542908	missense	probably benign	0.25
R9190:Cog2	UTSW	8	124533319	missense	probably damaging	1.00
R9307:Cog2	UTSW	8	124527098	critical splice acceptor site	probably null
R9629:Cog2	UTSW	8	124533386	missense	possibly damaging	0.67
X0026:Cog2	UTSW	8	124546020	missense	possibly damaging	0.88

Posted On

2013-03-25