Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Cog2'

592382

Institutional Source

Beutler Lab

Gene Symbol

Cog2

Ensembl Gene

ENSMUSG00000031979

Gene Name

component of oligomeric golgi complex 2

Synonyms

2700012E02Rik, 1190002B08Rik, Cog2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124537882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 333 (N333K)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

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

AlphaFold

Q921L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034460
AA Change: N333K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: N333K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	G	3: 108,462,991	R698S	probably damaging	Het
Abca6	T	A	11: 110,219,297	I607F	probably damaging	Het
Abcc4	A	T	14: 118,611,487	D559E	probably damaging	Het
Abl1	T	C	2: 31,689,829	V8A	possibly damaging	Het
Alkal1	A	T	1: 6,389,488	Y96F	probably damaging	Het
Asb3	T	A	11: 31,081,435	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,215,205	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581	E1258D	probably damaging	Het
Carmil2	A	T	8: 105,697,286	Q1257L	possibly damaging	Het
Cars	A	G	7: 143,587,103		probably null	Het
Ccdc88c	G	T	12: 100,945,232	A781E	probably benign	Het
Ccr10	A	T	11: 101,174,649	D18E	probably benign	Het
Cdcp1	C	A	9: 123,216,006		probably benign	Het
Ces5a	C	A	8: 93,514,269	R400L	probably damaging	Het
Clcn6	C	T	4: 148,012,694	V636M	probably damaging	Het
Cluh	T	A	11: 74,667,720	L1206H	probably damaging	Het
Dnah14	A	T	1: 181,707,533	I2355L	probably benign	Het
Dok4	T	C	8: 94,866,562	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,695,309	D601E	probably damaging	Het
Egr3	G	A	14: 70,078,077		probably null	Het
Evpl	T	C	11: 116,222,568	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,124,971	C214*	probably null	Het
Gm13088	T	A	4: 143,655,605	K174*	probably null	Het
Gm45861	A	C	8: 27,540,119	Y821S	unknown	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gys1	T	C	7: 45,455,071	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,435,217	I10L	probably benign	Het
Ikbkap	T	C	4: 56,792,075	Q231R	probably damaging	Het
Jmy	C	T	13: 93,442,599	R675Q	probably damaging	Het
Kif14	C	T	1: 136,468,820	T288I	probably damaging	Het
Kpna3	A	T	14: 61,367,637	N520K	probably benign	Het
Lonp2	A	T	8: 86,665,758	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,652,909		probably benign	Het
Mpeg1	A	T	19: 12,461,387	M70L	probably benign	Het
Msh3	C	A	13: 92,212,503	V1074L	probably benign	Het
Muc6	A	T	7: 141,639,825	L1645Q	unknown	Het
Nipbl	C	T	15: 8,293,101	V2609I	probably benign	Het
Nucks1	C	A	1: 131,931,106	T202N	probably benign	Het
Olfr1024	A	C	2: 85,904,536	F173V	probably damaging	Het
Olfr119	A	G	17: 37,700,682	N4S	probably benign	Het
Olfr1262	A	T	2: 90,003,045	Y213F	probably damaging	Het
Olfr1509	A	G	14: 52,450,442	T10A	probably benign	Het
Olfr870	A	G	9: 20,171,253	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,057,298	S257P	probably damaging	Het
Pnlip	G	C	19: 58,675,154	G187A	possibly damaging	Het
Rasgrf2	C	T	13: 92,131,406	S30N	possibly damaging	Het
Rho	G	T	6: 115,932,333	C110F	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Slc2a12	A	G	10: 22,693,994	D528G	probably damaging	Het
Sorcs2	G	A	5: 36,397,952	R32C	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Srp72	A	T	5: 76,974,826	N35Y	probably damaging	Het
Tm2d2	C	A	8: 25,018,264	Y141*	probably null	Het
Tor3a	G	A	1: 156,655,908	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,861,447	K420*	probably null	Het
Vmn2r26	T	C	6: 124,039,362	W262R	probably benign	Het
Yipf7	A	T	5: 69,519,229	V189D	probably damaging	Het
Zan	T	A	5: 137,467,108	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 122,383,556		probably null	Het
Zfp930	A	T	8: 69,228,685	H344L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCGAAGAGTTCCACAACTG -3'
(R):5'- TCCAAGTATCATATCCACACTTGAGAG -3'

Sequencing Primer
(F):5'- GAAGAGTTCCACAACTGGTTCCTG -3'
(R):5'- CATATCCACACTTGAGAGAAGCAGTG -3'

Posted On

2019-11-12