Incidental Mutation 'R2517:Cog3'
ID 253982
Institutional Source Beutler Lab
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75939790-75991998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75979182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 188 (D188G)
Ref Sequence ENSEMBL: ENSMUSP00000045016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000049168
AA Change: D188G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: D188G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Sec34 130 277 9.5e-57 PFAM
Blast:HisKA 745 810 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226686
Predicted Effect probably benign
Transcript: ENSMUST00000227473
AA Change: D178G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Gnl3 A G 14: 30,736,120 (GRCm39) S307P probably damaging Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klf10 A C 15: 38,297,357 (GRCm39) Y228D probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or1x6 T A 11: 50,939,300 (GRCm39) L122Q probably damaging Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Pkd1l1 T C 11: 8,908,900 (GRCm39) E368G unknown Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tecr C T 8: 84,299,204 (GRCm39) V248I probably benign Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A probably damaging Het
Other mutations in Cog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Cog3 APN 14 75,968,044 (GRCm39) missense possibly damaging 0.79
IGL02637:Cog3 APN 14 75,959,636 (GRCm39) splice site probably benign
IGL02934:Cog3 APN 14 75,979,129 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0403:Cog3 UTSW 14 75,979,767 (GRCm39) splice site probably benign
R0972:Cog3 UTSW 14 75,954,610 (GRCm39) missense probably benign
R1735:Cog3 UTSW 14 75,966,761 (GRCm39) nonsense probably null
R1813:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R1896:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R2567:Cog3 UTSW 14 75,991,730 (GRCm39) missense probably benign
R2962:Cog3 UTSW 14 75,977,974 (GRCm39) critical splice donor site probably null
R3103:Cog3 UTSW 14 75,984,641 (GRCm39) critical splice acceptor site probably null
R3689:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3691:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3927:Cog3 UTSW 14 75,980,998 (GRCm39) splice site probably benign
R4581:Cog3 UTSW 14 75,970,391 (GRCm39) missense probably benign 0.04
R4932:Cog3 UTSW 14 75,970,394 (GRCm39) missense probably damaging 0.98
R5560:Cog3 UTSW 14 75,966,833 (GRCm39) missense probably damaging 1.00
R5654:Cog3 UTSW 14 75,962,239 (GRCm39) missense probably benign 0.03
R6253:Cog3 UTSW 14 75,957,152 (GRCm39) missense probably damaging 1.00
R6419:Cog3 UTSW 14 75,962,178 (GRCm39) nonsense probably null
R6791:Cog3 UTSW 14 75,968,118 (GRCm39) missense probably damaging 1.00
R6803:Cog3 UTSW 14 75,941,479 (GRCm39) missense probably benign 0.00
R7015:Cog3 UTSW 14 75,950,716 (GRCm39) missense possibly damaging 0.81
R7998:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R7999:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R8075:Cog3 UTSW 14 75,968,142 (GRCm39) missense probably damaging 1.00
R8294:Cog3 UTSW 14 75,954,619 (GRCm39) missense probably damaging 1.00
R8329:Cog3 UTSW 14 75,978,003 (GRCm39) missense probably damaging 0.99
R8434:Cog3 UTSW 14 75,979,836 (GRCm39) missense probably damaging 1.00
R9170:Cog3 UTSW 14 75,966,802 (GRCm39) missense probably damaging 1.00
X0017:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
X0021:Cog3 UTSW 14 75,981,033 (GRCm39) missense possibly damaging 0.87
X0066:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCTCAGTGACCAGCTATTAAG -3'
(R):5'- TTGTAACCGTCTGCCTGAGG -3'

Sequencing Primer
(F):5'- CTCAGTGACCAGCTATTAAGTTCAAG -3'
(R):5'- CGCAGAGAGAGTGTTGAAGTTACTC -3'
Posted On 2014-12-04