Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01150:Cog2'

51840

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01150

Quality Score

Status

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124542891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 390 (F390S)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

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

AlphaFold

Q921L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034460
AA Change: F390S

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: F390S

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,702,550	D507G	possibly damaging	Het
Actl6a	A	G	3: 32,712,164	I60V	probably benign	Het
Adra2c	T	C	5: 35,281,141	F419S	probably damaging	Het
Afap1l2	T	C	19: 56,930,186	Y105C	probably damaging	Het
Arid4b	C	T	13: 14,195,374	Q1152*	probably null	Het
Arsj	A	G	3: 126,438,784	D393G	probably benign	Het
Avp	T	C	2: 130,580,673		probably benign	Het
Cacna2d3	C	T	14: 29,183,641	V390I	possibly damaging	Het
Ccdc25	T	A	14: 65,860,202	M195K	possibly damaging	Het
Cdhr2	T	A	13: 54,731,118	S979T	probably benign	Het
Dennd5b	A	G	6: 149,068,085	V290A	probably benign	Het
Ebf1	T	C	11: 44,869,100	L188P	probably damaging	Het
Fam129a	T	C	1: 151,717,721	V719A	probably benign	Het
Galt	T	C	4: 41,757,786		probably benign	Het
Gm12830	C	T	4: 114,845,064	T141I	unknown	Het
Herc2	T	A	7: 56,181,133	W2965R	probably damaging	Het
Hrg	A	G	16: 22,959,159		probably null	Het
Ighv8-5	T	C	12: 115,067,574	Y115C	probably damaging	Het
Igkv12-89	A	G	6: 68,835,143	V14A	probably benign	Het
Nav2	A	C	7: 49,452,521	T295P	probably benign	Het
Nrg1	G	A	8: 31,917,875	T110I	probably damaging	Het
Olfr1183	T	C	2: 88,462,075	V264A	possibly damaging	Het
Olfr555	A	C	7: 102,659,492	K224Q	probably benign	Het
Olfr847	A	T	9: 19,375,239	I214N	probably damaging	Het
Pclo	T	C	5: 14,676,912		probably benign	Het
Polg2	T	C	11: 106,777,432		probably null	Het
Ptges	G	T	2: 30,892,708	R111S	probably damaging	Het
Rbbp4	T	C	4: 129,322,875		probably benign	Het
Rundc3a	T	C	11: 102,393,776	V34A	probably benign	Het
Scn3a	C	A	2: 65,497,365		probably null	Het
Sec14l3	T	C	11: 4,076,238		probably benign	Het
Strip1	C	T	3: 107,626,731		probably null	Het
Svep1	T	A	4: 58,070,302	I2495F	probably benign	Het
Syne1	A	G	10: 5,443,154	S71P	probably damaging	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tmem161b	C	T	13: 84,292,407	R133*	probably null	Het
Tnnc2	A	T	2: 164,777,833	I71N	probably damaging	Het
Vps13d	T	C	4: 145,149,275	N1554S	probably benign	Het
Wfdc3	A	T	2: 164,732,203		probably benign	Het
Zfp648	A	T	1: 154,205,364	H423L	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
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
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

2013-06-21