Incidental Mutation 'R6186:Cog2'
ID 502180
Institutional Source Beutler Lab
Gene Symbol Cog2
Ensembl Gene ENSMUSG00000031979
Gene Name component of oligomeric golgi complex 2
Synonyms Cog2, 1190002B08Rik, 2700012E02Rik
MMRRC Submission 044326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 125247506-125278747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125273425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 588 (T588N)
Ref Sequence ENSEMBL: ENSMUSP00000034460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034460]
AlphaFold Q921L5
Predicted Effect probably damaging
Transcript: ENSMUST00000034460
AA Change: T588N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: T588N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,298,502 (GRCm39) S409P probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akap8l C T 17: 32,552,018 (GRCm39) V420I probably benign Het
Ankrd36 T G 11: 5,593,812 (GRCm39) D472E possibly damaging Het
Apbb1 T C 7: 105,216,933 (GRCm39) E250G probably damaging Het
Cacna2d4 G A 6: 119,258,650 (GRCm39) E579K possibly damaging Het
Capn7 G T 14: 31,092,875 (GRCm39) G780W probably damaging Het
Celsr1 T C 15: 85,805,394 (GRCm39) E2419G possibly damaging Het
Cep164 A T 9: 45,705,407 (GRCm39) S363R probably damaging Het
Cfap221 T A 1: 119,862,340 (GRCm39) I581F probably damaging Het
Cyp2a5 T C 7: 26,542,813 (GRCm39) probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Evx1 T C 6: 52,291,203 (GRCm39) probably null Het
Fam186a T C 15: 99,845,206 (GRCm39) H346R unknown Het
Fam53b T A 7: 132,317,445 (GRCm39) D399V possibly damaging Het
Fcho2 T A 13: 98,951,591 (GRCm39) N9I probably benign Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fkbpl T C 17: 34,865,153 (GRCm39) F307S probably benign Het
Fn1 A G 1: 71,676,449 (GRCm39) I594T probably damaging Het
Inpp4b T A 8: 82,772,863 (GRCm39) V719E probably damaging Het
Ldlr C T 9: 21,635,055 (GRCm39) probably benign Het
Macf1 A G 4: 123,377,968 (GRCm39) V1419A probably damaging Het
Mapkap1 A G 2: 34,453,126 (GRCm39) T340A possibly damaging Het
Mark2 A G 19: 7,260,567 (GRCm39) V403A probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Mrtfa T C 15: 80,900,853 (GRCm39) K546R probably damaging Het
Myo1h C T 5: 114,457,864 (GRCm39) T125I possibly damaging Het
Ndufa8 A G 2: 35,929,752 (GRCm39) V118A probably benign Het
Nphs1 A G 7: 30,165,059 (GRCm39) T551A probably damaging Het
Or2k2 T C 4: 58,784,948 (GRCm39) Y258C probably damaging Het
Or4k15c T A 14: 50,321,982 (GRCm39) D52V probably damaging Het
Pcm1 T C 8: 41,746,830 (GRCm39) L1343P probably benign Het
Pdcd1 T A 1: 93,967,846 (GRCm39) R202* probably null Het
Pramel52-ps T A 5: 94,531,835 (GRCm39) Y240N probably benign Het
Prkab2 A G 3: 97,571,307 (GRCm39) probably null Het
Ptdss2 T C 7: 140,734,862 (GRCm39) probably benign Het
Rap1b G T 10: 117,656,457 (GRCm39) F78L probably damaging Het
Rbl2 C T 8: 91,833,358 (GRCm39) T711I probably damaging Het
Rhobtb2 A G 14: 70,035,693 (GRCm39) I126T probably damaging Het
Rimoc1 C A 15: 4,015,851 (GRCm39) D238Y possibly damaging Het
Rnf123 A C 9: 107,947,157 (GRCm39) S210A possibly damaging Het
Shank1 T A 7: 44,001,990 (GRCm39) F1228L probably benign Het
Spata31f3 T C 4: 42,872,000 (GRCm39) K125R possibly damaging Het
Sumo1 C A 1: 59,683,729 (GRCm39) V38L probably benign Het
Sycp2 C T 2: 178,025,353 (GRCm39) S363N probably damaging Het
Tbx2 G T 11: 85,728,672 (GRCm39) E352* probably null Het
Timm44 T C 8: 4,316,824 (GRCm39) N270D probably damaging Het
Topaz1 A T 9: 122,577,891 (GRCm39) Q267L probably benign Het
Trp63 T C 16: 25,695,483 (GRCm39) probably benign Het
Ushbp1 T A 8: 71,843,647 (GRCm39) T264S possibly damaging Het
Vav3 A G 3: 109,423,383 (GRCm39) Y334C probably damaging Het
Wdr36 G C 18: 32,985,954 (GRCm39) A553P probably benign Het
Zfhx2 A T 14: 55,300,617 (GRCm39) I2378K probably damaging Het
Zfp276 T A 8: 123,982,672 (GRCm39) Y145* probably null Het
Zfp458 T C 13: 67,405,701 (GRCm39) E246G probably damaging Het
Zfp526 A G 7: 24,925,561 (GRCm39) T607A probably benign 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
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
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'- CCAGTGACTCATTCCACTGC -3'
(R):5'- TAGAAACACCGTGAAATCGTTC -3'

Sequencing Primer
(F):5'- ACTGCCCTGTGTCACAGC -3'
(R):5'- TGAGTTCCAGATCAGTCAGGACTC -3'
Posted On 2018-02-27