Incidental Mutation 'IGL02052:Cog2'
ID185120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog2
Ensembl Gene ENSMUSG00000031979
Gene Namecomponent of oligomeric golgi complex 2
Synonyms2700012E02Rik, 1190002B08Rik, Cog2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02052
Quality Score
Status
Chromosome8
Chromosomal Location124520767-124552008 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 124542888 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034460]
Predicted Effect probably null
Transcript: ENSMUST00000034460
SMART Domains Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,499,768 V533M probably damaging Het
Bicd2 A G 13: 49,379,189 D343G possibly damaging Het
Ccl26 C T 5: 135,563,339 S48N possibly damaging Het
Cdkn1b A T 6: 134,921,007 R30* probably null Het
Cds1 G T 5: 101,814,472 V318L probably benign Het
Ceacam11 A G 7: 17,973,623 S111G probably benign Het
Cntn1 A C 15: 92,291,703 I636L possibly damaging Het
Cyp2g1 G A 7: 26,814,294 probably benign Het
Ddx54 T C 5: 120,625,718 V644A possibly damaging Het
Dnah1 T C 14: 31,268,786 Q3192R probably damaging Het
Dyrk2 T G 10: 118,860,543 H270P probably damaging Het
Ephb6 A G 6: 41,613,322 T3A probably benign Het
Fam120a G A 13: 48,933,945 probably benign Het
Fam184a A G 10: 53,697,120 probably benign Het
Fmo1 A G 1: 162,850,060 probably null Het
Gaa A G 11: 119,284,195 Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 I169N probably damaging Het
Gm13083 A C 4: 143,615,073 D24A probably benign Het
Gm13734 T C 2: 87,136,321 probably null Het
Gnb1 T C 4: 155,533,691 probably benign Het
Hecw2 G T 1: 53,926,511 F385L probably benign Het
Kif5a C T 10: 127,243,499 V277M probably damaging Het
Mogat2 A T 7: 99,238,564 M1K probably null Het
Mrgprx2 A T 7: 48,482,294 W259R possibly damaging Het
Nf1 T C 11: 79,412,727 L410S probably damaging Het
Ntn4 T G 10: 93,707,349 N312K probably damaging Het
Papss2 T C 19: 32,660,583 V365A possibly damaging Het
Pde4c A G 8: 70,748,413 N420S probably damaging Het
Plec C T 15: 76,180,341 R1911H probably damaging Het
Rnf19b A G 4: 129,071,820 H237R probably damaging Het
Slfn4 T C 11: 83,186,974 L196P possibly damaging Het
Steap2 G T 5: 5,673,586 F431L probably damaging Het
Tex15 A G 8: 33,582,465 E2680G probably benign Het
Tmprss15 A T 16: 79,087,506 I96N probably damaging Het
Trim34a T G 7: 104,247,831 V34G probably benign Het
Ttyh1 A G 7: 4,130,574 probably benign Het
Usp29 A C 7: 6,962,526 H456P probably benign Het
Wdfy1 A G 1: 79,714,944 S219P probably damaging Het
Zfp738 A T 13: 67,671,481 S117R possibly damaging Het
Other mutations in Cog2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0026:Cog2 UTSW 8 124546020 missense possibly damaging 0.88
Posted On2014-05-07