Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Cog2'

426053

Institutional Source

Beutler Lab

Gene Symbol

Cog2

Ensembl Gene

ENSMUSG00000031979

Gene Name

component of oligomeric golgi complex 2

Synonyms

2700012E02Rik, 1190002B08Rik, Cog2

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124520767-124552008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124532529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 196 (V196L)

Ref Sequence

ENSEMBL: ENSMUSP00000034460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034460] [ENSMUST00000176159] [ENSMUST00000176279]

AlphaFold

Q921L5

Predicted Effect

probably benign
Transcript: ENSMUST00000034460
AA Change: V196L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: V196L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176159

SMART Domains

Protein: ENSMUSP00000135600
Gene: ENSMUSG00000031979

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176279

SMART Domains

Protein: ENSMUSP00000135022
Gene: ENSMUSG00000031979

Domain	Start	End	E-Value	Type
Pfam:COG2	15	101	1.5e-37	PFAM

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,698	E226G	probably damaging	Het
4930503B20Rik	A	G	3: 146,650,608	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,650,958	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,919,193	T341A	probably benign	Het
4932438A13Rik	G	T	3: 36,917,668	V517F	probably damaging	Het
Adamts13	G	A	2: 26,986,558	V495I	probably benign	Het
Alms1	C	A	6: 85,623,088	T2101K	probably benign	Het
Als2	T	C	1: 59,174,946	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,505,214	M275K	probably benign	Het
Arfip2	A	T	7: 105,636,976	Y161*	probably null	Het
Asap3	A	T	4: 136,241,259	E707D	probably benign	Het
Atm	C	T	9: 53,507,777		probably null	Het
Atp9b	A	T	18: 80,776,837	S577R	probably benign	Het
Camk1d	G	C	2: 5,303,366	D274E	probably benign	Het
Cebpz	C	T	17: 78,922,205	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnst	T	A	1: 179,601,736		probably benign	Het
Col11a1	A	G	3: 114,194,184		probably null	Het
Cops6	T	A	5: 138,163,500		probably null	Het
Cspg4	A	G	9: 56,890,200	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,929,339	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,268,718	V300M	probably benign	Het
Dcp1b	C	A	6: 119,175,367	D25E	probably damaging	Het
Ddx10	A	T	9: 53,233,857	Y273*	probably null	Het
Dhx58	T	C	11: 100,698,208	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899	W2129*	probably null	Het
Egr4	A	T	6: 85,512,460	L206Q	probably damaging	Het
Eif4g3	A	G	4: 138,103,398		probably null	Het
Fbxo46	A	G	7: 19,136,616	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,624,208	M224L	probably benign	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,705,114	K91E	probably benign	Het
H2afy2	G	A	10: 61,751,687	T156M	possibly damaging	Het
Hecw1	A	T	13: 14,322,589	V278E	probably damaging	Het
Hydin	A	G	8: 110,539,842		probably null	Het
Iars	T	C	13: 49,722,165	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,332,041	T182S	probably benign	Het
Lats2	T	G	14: 57,691,353	S1022R	probably benign	Het
Lef1	C	T	3: 131,194,659	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,914,248	I79L	possibly damaging	Het
Man2b2	T	G	5: 36,814,518	Q618P	probably benign	Het
Mei1	T	C	15: 82,092,756	V180A	possibly damaging	Het
Mmp15	A	T	8: 95,366,404	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mut	T	A	17: 40,947,184	S414T	probably benign	Het
Myo18a	T	C	11: 77,853,350	M1846T	probably benign	Het
Neo1	A	T	9: 58,990,234	N146K	probably benign	Het
Nos3	A	G	5: 24,383,890	T1174A	probably benign	Het
Olfr1233	A	T	2: 89,339,462	I280N	probably damaging	Het
Olfr417	T	C	1: 174,369,270	Y118H	probably damaging	Het
Olfr566	A	T	7: 102,856,479	S268T	probably damaging	Het
Olfr960	A	T	9: 39,623,134	T4S	probably benign	Het
Pax8	A	T	2: 24,442,910		probably benign	Het
Pde5a	G	A	3: 122,818,009	C532Y	probably damaging	Het
Pigq	T	C	17: 25,931,472	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,720,082	V43A	probably benign	Het
Pik3cb	T	C	9: 99,088,663	N325S	probably benign	Het
Pot1b	T	C	17: 55,700,063	K18R	probably benign	Het
Ppp1r42	A	T	1: 9,999,405	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,740,459	K167N	probably benign	Het
Rnf123	T	C	9: 108,070,731	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,595,252	D204G	probably damaging	Het
Rpf2	G	A	10: 40,233,185	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,419,458	N742D	probably benign	Het
Shank1	G	A	7: 44,352,651	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,630,099	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,292,442	V2M	probably benign	Het
Slc24a3	T	C	2: 145,613,574	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,197,764		probably null	Het
Snx30	T	A	4: 59,879,329	D189E	probably benign	Het
Sspo	A	G	6: 48,495,260	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,327,790	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,758,774		probably benign	Het
Ubn1	T	C	16: 5,074,369	L585P	possibly damaging	Het
Usp24	A	T	4: 106,408,013	D1781V	probably damaging	Het
Utp20	A	T	10: 88,772,915	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,146,996	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,946,654	V274A	probably benign	Het
Wdr17	A	G	8: 54,639,489	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,440,322	R156L	probably damaging	Het
Zan	T	C	5: 137,435,634	D2279G	unknown	Het
Zan	T	C	5: 137,464,074	T948A	unknown	Het
Zfp758	T	C	17: 22,372,068	S4P	probably damaging	Het
Zfp839	A	G	12: 110,855,586	E278G	probably benign	Het
Zfp994	T	A	17: 22,200,525	H481L	probably damaging	Het
Zswim9	G	A	7: 13,260,983	R416C	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTTGAACTCACACGGC -3'
(R):5'- CCCCTACAACTTGGAGCATG -3'

Sequencing Primer
(F):5'- TGAACTCACACGGCAGGCAG -3'
(R):5'- CCTACAACTTGGAGCATGAGACTTAG -3'

Posted On

2016-08-04