Incidental Mutation 'IGL03144:Cog2'
ID 410838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog2
Ensembl Gene ENSMUSG00000031979
Gene Name component of oligomeric golgi complex 2
Synonyms Cog2, 1190002B08Rik, 2700012E02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03144
Quality Score
Status
Chromosome 8
Chromosomal Location 125247506-125278747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125267763 bp (GRCm39)
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

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: 24,600,938 (GRCm39) Q451K probably benign Het
Acly A T 11: 100,405,909 (GRCm39) D294E possibly damaging Het
Arid3a C T 10: 79,782,316 (GRCm39) probably benign Het
Ascc3 T C 10: 50,643,539 (GRCm39) V1830A probably benign Het
Atp6v1b1 T C 6: 83,735,333 (GRCm39) V467A probably benign Het
Ccdc171 A T 4: 83,736,327 (GRCm39) I1233L probably damaging Het
Ccdc74a C A 16: 17,466,730 (GRCm39) Q146K possibly damaging Het
Cdh26 A G 2: 178,109,967 (GRCm39) D420G probably damaging Het
Ceacam20 T C 7: 19,705,444 (GRCm39) V145A possibly damaging Het
Cmya5 C A 13: 93,227,376 (GRCm39) A2571S probably damaging Het
Col26a1 G T 5: 136,794,202 (GRCm39) T132N probably damaging Het
Col6a2 T A 10: 76,450,259 (GRCm39) H224L probably benign Het
Cpm C T 10: 117,519,319 (GRCm39) S409L probably benign Het
Dock4 G T 12: 40,742,906 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,557,603 (GRCm39) N391Y possibly damaging Het
Exosc9 G A 3: 36,608,284 (GRCm39) G126D probably damaging Het
Eya3 T C 4: 132,420,453 (GRCm39) S256P probably benign Het
Fat3 T C 9: 16,286,541 (GRCm39) D994G probably damaging Het
Fat4 A G 3: 39,011,008 (GRCm39) Q2036R possibly damaging Het
Fryl T C 5: 73,258,798 (GRCm39) Q662R probably null Het
Gm13271 A G 4: 88,673,636 (GRCm39) R178G probably benign Het
Gpr165 T A X: 95,760,560 (GRCm39) L279Q probably damaging Het
Htr1b A G 9: 81,513,998 (GRCm39) L203P probably damaging Het
Kcnb2 T C 1: 15,780,112 (GRCm39) L328P probably damaging Het
Klhl26 C T 8: 70,905,214 (GRCm39) R198H probably damaging Het
Nhsl2 A G X: 101,123,115 (GRCm39) R973G possibly damaging Het
Nmi A T 2: 51,842,546 (GRCm39) F182Y probably damaging Het
Nop2 T A 6: 125,114,475 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Ooep G T 9: 78,285,289 (GRCm39) A109E possibly damaging Het
Or1j21 A G 2: 36,684,093 (GRCm39) T282A probably benign Het
Pan3 T C 5: 147,387,591 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,467,459 (GRCm39) N127D probably damaging Het
Rabgap1 G A 2: 37,430,544 (GRCm39) R695H probably damaging Het
Rxrg G A 1: 167,426,327 (GRCm39) G3R possibly damaging Het
Slc17a3 T C 13: 24,030,423 (GRCm39) M178T probably benign Het
Slc39a8 A G 3: 135,589,971 (GRCm39) E287G probably benign Het
Slc44a5 G T 3: 153,949,177 (GRCm39) D217Y possibly damaging Het
Slc4a10 G T 2: 62,080,810 (GRCm39) V346L probably benign Het
Slc9a4 T C 1: 40,651,362 (GRCm39) Y547H probably damaging Het
St6galnac3 A C 3: 152,911,164 (GRCm39) Y266D probably damaging Het
Stard6 A T 18: 70,609,182 (GRCm39) Y3F possibly damaging Het
Stk25 C A 1: 93,556,858 (GRCm39) L53F probably damaging Het
Tep1 A T 14: 51,081,474 (GRCm39) probably benign Het
Tmem151a T A 19: 5,135,400 (GRCm39) M1L probably benign Het
Trim10 T C 17: 37,187,740 (GRCm39) S319P probably damaging Het
Trmt44 G T 5: 35,721,766 (GRCm39) P466T probably benign Het
Unc79 T C 12: 103,008,401 (GRCm39) I256T probably damaging Het
Vmn2r125 G T 4: 156,702,314 (GRCm39) L33F possibly damaging Het
Other mutations in Cog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Cog2 APN 8 125,271,982 (GRCm39) missense probably benign 0.00
IGL01092:Cog2 APN 8 125,272,019 (GRCm39) missense probably damaging 1.00
IGL01150:Cog2 APN 8 125,269,630 (GRCm39) missense possibly damaging 0.62
IGL02052:Cog2 APN 8 125,269,627 (GRCm39) critical splice acceptor site probably null
IGL02308:Cog2 APN 8 125,259,951 (GRCm39) critical splice acceptor site probably null
IGL02543:Cog2 APN 8 125,256,698 (GRCm39) missense probably benign 0.09
IGL02978:Cog2 APN 8 125,277,075 (GRCm39) missense probably benign
IGL03008:Cog2 APN 8 125,262,131 (GRCm39) splice site probably benign
kugge UTSW 8 125,276,971 (GRCm39) missense probably damaging 1.00
Pelota UTSW 8 125,277,045 (GRCm39) missense probably damaging 1.00
PIT4677001:Cog2 UTSW 8 125,272,010 (GRCm39) missense probably benign 0.22
R0071:Cog2 UTSW 8 125,275,407 (GRCm39) splice site probably benign
R0071:Cog2 UTSW 8 125,275,407 (GRCm39) splice site probably benign
R0110:Cog2 UTSW 8 125,255,797 (GRCm39) critical splice donor site probably null
R0436:Cog2 UTSW 8 125,275,253 (GRCm39) splice site probably benign
R0450:Cog2 UTSW 8 125,255,797 (GRCm39) critical splice donor site probably null
R1365:Cog2 UTSW 8 125,267,713 (GRCm39) missense probably damaging 0.97
R1661:Cog2 UTSW 8 125,269,629 (GRCm39) missense probably benign 0.20
R1698:Cog2 UTSW 8 125,252,422 (GRCm39) missense probably damaging 1.00
R1856:Cog2 UTSW 8 125,278,142 (GRCm39) missense possibly damaging 0.93
R2122:Cog2 UTSW 8 125,255,724 (GRCm39) missense possibly damaging 0.91
R2398:Cog2 UTSW 8 125,256,665 (GRCm39) missense probably benign 0.07
R3855:Cog2 UTSW 8 125,256,742 (GRCm39) critical splice donor site probably null
R4580:Cog2 UTSW 8 125,271,875 (GRCm39) missense probably benign 0.01
R4803:Cog2 UTSW 8 125,262,190 (GRCm39) missense probably damaging 0.96
R5316:Cog2 UTSW 8 125,255,779 (GRCm39) missense probably benign 0.14
R5346:Cog2 UTSW 8 125,273,370 (GRCm39) missense possibly damaging 0.94
R5394:Cog2 UTSW 8 125,259,268 (GRCm39) missense probably benign 0.00
R5395:Cog2 UTSW 8 125,271,960 (GRCm39) missense probably benign 0.00
R5738:Cog2 UTSW 8 125,272,777 (GRCm39) missense probably benign 0.03
R5861:Cog2 UTSW 8 125,264,617 (GRCm39) missense probably damaging 1.00
R5894:Cog2 UTSW 8 125,272,006 (GRCm39) missense probably benign 0.00
R5941:Cog2 UTSW 8 125,272,825 (GRCm39) missense probably benign
R6186:Cog2 UTSW 8 125,273,425 (GRCm39) missense probably damaging 1.00
R6400:Cog2 UTSW 8 125,277,045 (GRCm39) missense probably damaging 1.00
R6518:Cog2 UTSW 8 125,253,842 (GRCm39) nonsense probably null
R6558:Cog2 UTSW 8 125,276,971 (GRCm39) missense probably damaging 1.00
R6717:Cog2 UTSW 8 125,252,488 (GRCm39) missense probably damaging 1.00
R6902:Cog2 UTSW 8 125,273,430 (GRCm39) missense probably damaging 1.00
R6914:Cog2 UTSW 8 125,271,875 (GRCm39) missense probably benign 0.00
R6942:Cog2 UTSW 8 125,271,875 (GRCm39) missense probably benign 0.00
R7103:Cog2 UTSW 8 125,267,853 (GRCm39) critical splice donor site probably null
R7274:Cog2 UTSW 8 125,262,258 (GRCm39) missense possibly damaging 0.71
R7641:Cog2 UTSW 8 125,264,621 (GRCm39) missense probably damaging 0.96
R7674:Cog2 UTSW 8 125,264,621 (GRCm39) missense probably damaging 0.96
R8559:Cog2 UTSW 8 125,269,647 (GRCm39) missense probably benign 0.25
R9190:Cog2 UTSW 8 125,260,058 (GRCm39) missense probably damaging 1.00
R9307:Cog2 UTSW 8 125,253,837 (GRCm39) critical splice acceptor site probably null
R9629:Cog2 UTSW 8 125,260,125 (GRCm39) missense possibly damaging 0.67
X0026:Cog2 UTSW 8 125,272,759 (GRCm39) missense possibly damaging 0.88
Posted On 2016-08-02