Incidental Mutation 'R5861:Cog2'
ID 453920
Institutional Source Beutler Lab
Gene Symbol Cog2
Ensembl Gene ENSMUSG00000031979
Gene Name component of oligomeric golgi complex 2
Synonyms Cog2, 1190002B08Rik, 2700012E02Rik
MMRRC Submission 044073-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5861 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 125247506-125278747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125264617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 332 (F332S)
Ref Sequence ENSEMBL: ENSMUSP00000034460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034460]
AlphaFold Q921L5
Predicted Effect probably damaging
Transcript: ENSMUST00000034460
AA Change: F332S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: F332S

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
Meta Mutation Damage Score 0.9348 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myf5 A T 10: 107,320,069 (GRCm39) C194S probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Numa1 C A 7: 101,658,494 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Papolb T C 5: 142,514,992 (GRCm39) N217S possibly damaging Het
Pcmtd2 C A 2: 181,484,268 (GRCm39) T26K probably damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Rps5 T A 7: 12,659,501 (GRCm39) F97L probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably 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
IGL03144:Cog2 APN 8 125,267,763 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TTTTCTCCAGCGAAGAGTTCC -3'
(R):5'- TCATATCCACACTTGAGAGAAGC -3'

Sequencing Primer
(F):5'- GAAGAGTTCCACAACTGGTTCCTG -3'
(R):5'- TATCCACACTTGAGAGAAGCAGTGTG -3'
Posted On 2017-02-10