Incidental Mutation 'IGL03144:Cog2'
ID410838
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 #IGL03144
Quality Score
Status
Chromosome8
Chromosomal Location124520767-124552008 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124541024 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 360 (S360P)
Ref Sequence ENSEMBL: ENSMUSP00000034460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034460]
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

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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
X0026:Cog2 UTSW 8 124546020 missense possibly damaging 0.88
Posted On2016-08-02