Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Cog2'

410838

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 #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124541024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 360 (S360P)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

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

AlphaFold

Q921L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034460
AA Change: S360P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: S360P

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,381,964	Q451K	probably benign	Het
Acly	A	T	11: 100,515,083	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,946,482		probably benign	Het
Ascc3	T	C	10: 50,767,443	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,758,351	V467A	probably benign	Het
Ccdc171	A	T	4: 83,818,090	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,648,866	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,468,174	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,971,519	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,090,868	A2571S	probably damaging	Het
Col26a1	G	T	5: 136,765,348	T132N	probably damaging	Het
Col6a2	T	A	10: 76,614,425	H224L	probably benign	Het
Cpm	C	T	10: 117,683,414	S409L	probably benign	Het
Dock4	G	T	12: 40,692,907		probably benign	Het
Dpy19l2	T	A	9: 24,646,307	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,554,135	G126D	probably damaging	Het
Eya3	T	C	4: 132,693,142	S256P	probably benign	Het
Fat3	T	C	9: 16,375,245	D994G	probably damaging	Het
Fat4	A	G	3: 38,956,859	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,101,455	Q662R	probably null	Het
Gm13271	A	G	4: 88,755,399	R178G	probably benign	Het
Gpr165	T	A	X: 96,716,954	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,631,945	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,709,888	L328P	probably damaging	Het
Klhl26	C	T	8: 70,452,564	R198H	probably damaging	Het
Nhsl2	A	G	X: 102,079,509	R973G	possibly damaging	Het
Nmi	A	T	2: 51,952,534	F182Y	probably damaging	Het
Nop2	T	A	6: 125,137,512		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr50	A	G	2: 36,794,081	T282A	probably benign	Het
Ooep	G	T	9: 78,378,007	A109E	possibly damaging	Het
Pan3	T	C	5: 147,450,781		probably benign	Het
Pcdhb6	A	G	18: 37,334,406	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,540,532	R695H	probably damaging	Het
Rxrg	G	A	1: 167,598,758	G3R	possibly damaging	Het
Slc17a3	T	C	13: 23,846,440	M178T	probably benign	Het
Slc39a8	A	G	3: 135,884,210	E287G	probably benign	Het
Slc44a5	G	T	3: 154,243,540	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,250,466	V346L	probably benign	Het
Slc9a4	T	C	1: 40,612,202	Y547H	probably damaging	Het
St6galnac3	A	C	3: 153,205,527	Y266D	probably damaging	Het
Stard6	A	T	18: 70,476,111	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,629,136	L53F	probably damaging	Het
Tep1	A	T	14: 50,844,017		probably benign	Het
Tmem151a	T	A	19: 5,085,372	M1L	probably benign	Het
Trim10	T	C	17: 36,876,848	S319P	probably damaging	Het
Trmt44	G	T	5: 35,564,422	P466T	probably benign	Het
Unc79	T	C	12: 103,042,142	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,350,019	L33F	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
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

2016-08-02