Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Cog2'

426125

Institutional Source

Beutler Lab

Gene Symbol

Cog2

Ensembl Gene

ENSMUSG00000031979

Gene Name

component of oligomeric golgi complex 2

Synonyms

Cog2, 1190002B08Rik, 2700012E02Rik

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125247506-125278747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125271960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 491 (H491Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

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

AlphaFold

Q921L5

Predicted Effect

probably benign
Transcript: ENSMUST00000034460
AA Change: H491Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: H491Q

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

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Cog2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Cog2	APN	8	125,271,982 (GRCm39)	missense	probably benign	0.00
IGL01092:Cog2	APN	8	125,272,019 (GRCm39)	missense	probably damaging	1.00
IGL01150:Cog2	APN	8	125,269,630 (GRCm39)	missense	possibly damaging	0.62
IGL02052:Cog2	APN	8	125,269,627 (GRCm39)	critical splice acceptor site	probably null
IGL02308:Cog2	APN	8	125,259,951 (GRCm39)	critical splice acceptor site	probably null
IGL02543:Cog2	APN	8	125,256,698 (GRCm39)	missense	probably benign	0.09
IGL02978:Cog2	APN	8	125,277,075 (GRCm39)	missense	probably benign
IGL03008:Cog2	APN	8	125,262,131 (GRCm39)	splice site	probably benign
IGL03144:Cog2	APN	8	125,267,763 (GRCm39)	missense	probably damaging	0.98
kugge	UTSW	8	125,276,971 (GRCm39)	missense	probably damaging	1.00
Pelota	UTSW	8	125,277,045 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Cog2	UTSW	8	125,272,010 (GRCm39)	missense	probably benign	0.22
R0071:Cog2	UTSW	8	125,275,407 (GRCm39)	splice site	probably benign
R0071:Cog2	UTSW	8	125,275,407 (GRCm39)	splice site	probably benign
R0110:Cog2	UTSW	8	125,255,797 (GRCm39)	critical splice donor site	probably null
R0436:Cog2	UTSW	8	125,275,253 (GRCm39)	splice site	probably benign
R0450:Cog2	UTSW	8	125,255,797 (GRCm39)	critical splice donor site	probably null
R1365:Cog2	UTSW	8	125,267,713 (GRCm39)	missense	probably damaging	0.97
R1661:Cog2	UTSW	8	125,269,629 (GRCm39)	missense	probably benign	0.20
R1698:Cog2	UTSW	8	125,252,422 (GRCm39)	missense	probably damaging	1.00
R1856:Cog2	UTSW	8	125,278,142 (GRCm39)	missense	possibly damaging	0.93
R2122:Cog2	UTSW	8	125,255,724 (GRCm39)	missense	possibly damaging	0.91
R2398:Cog2	UTSW	8	125,256,665 (GRCm39)	missense	probably benign	0.07
R3855:Cog2	UTSW	8	125,256,742 (GRCm39)	critical splice donor site	probably null
R4580:Cog2	UTSW	8	125,271,875 (GRCm39)	missense	probably benign	0.01
R4803:Cog2	UTSW	8	125,262,190 (GRCm39)	missense	probably damaging	0.96
R5316:Cog2	UTSW	8	125,255,779 (GRCm39)	missense	probably benign	0.14
R5346:Cog2	UTSW	8	125,273,370 (GRCm39)	missense	possibly damaging	0.94
R5394:Cog2	UTSW	8	125,259,268 (GRCm39)	missense	probably benign	0.00
R5738:Cog2	UTSW	8	125,272,777 (GRCm39)	missense	probably benign	0.03
R5861:Cog2	UTSW	8	125,264,617 (GRCm39)	missense	probably damaging	1.00
R5894:Cog2	UTSW	8	125,272,006 (GRCm39)	missense	probably benign	0.00
R5941:Cog2	UTSW	8	125,272,825 (GRCm39)	missense	probably benign
R6186:Cog2	UTSW	8	125,273,425 (GRCm39)	missense	probably damaging	1.00
R6400:Cog2	UTSW	8	125,277,045 (GRCm39)	missense	probably damaging	1.00
R6518:Cog2	UTSW	8	125,253,842 (GRCm39)	nonsense	probably null
R6558:Cog2	UTSW	8	125,276,971 (GRCm39)	missense	probably damaging	1.00
R6717:Cog2	UTSW	8	125,252,488 (GRCm39)	missense	probably damaging	1.00
R6902:Cog2	UTSW	8	125,273,430 (GRCm39)	missense	probably damaging	1.00
R6914:Cog2	UTSW	8	125,271,875 (GRCm39)	missense	probably benign	0.00
R6942:Cog2	UTSW	8	125,271,875 (GRCm39)	missense	probably benign	0.00
R7103:Cog2	UTSW	8	125,267,853 (GRCm39)	critical splice donor site	probably null
R7274:Cog2	UTSW	8	125,262,258 (GRCm39)	missense	possibly damaging	0.71
R7641:Cog2	UTSW	8	125,264,621 (GRCm39)	missense	probably damaging	0.96
R7674:Cog2	UTSW	8	125,264,621 (GRCm39)	missense	probably damaging	0.96
R8559:Cog2	UTSW	8	125,269,647 (GRCm39)	missense	probably benign	0.25
R9190:Cog2	UTSW	8	125,260,058 (GRCm39)	missense	probably damaging	1.00
R9307:Cog2	UTSW	8	125,253,837 (GRCm39)	critical splice acceptor site	probably null
R9629:Cog2	UTSW	8	125,260,125 (GRCm39)	missense	possibly damaging	0.67
X0026:Cog2	UTSW	8	125,272,759 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CACAGTTCTAAGAACAGCAGGGC -3'
(R):5'- CCACTGTGGAGGGAAACATC -3'

Sequencing Primer
(F):5'- CTGAGATAGACATGCTGTACCCTG -3'
(R):5'- TTCACAGATCCAGTGTCC -3'

Posted On

2016-08-04