Incidental Mutation 'R7177:Cog5'
ID 558711
Institutional Source Beutler Lab
Gene Symbol Cog5
Ensembl Gene ENSMUSG00000035933
Gene Name component of oligomeric golgi complex 5
Synonyms GTC90, GOLTC1, 5430405C01Rik
MMRRC Submission 045268-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R7177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 31704868-31987629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31810888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 194 (I194K)
Ref Sequence ENSEMBL: ENSMUSP00000044797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036862]
AlphaFold Q8C0L8
Predicted Effect probably damaging
Transcript: ENSMUST00000036862
AA Change: I194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: I194K

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
Pfam:COG5 35 158 3.8e-37 PFAM
Pfam:Vps51 37 120 1.8e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
Allele List at MGI

All alleles(99) : Gene trapped(99)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,325,685 (GRCm39) L74S probably damaging Het
5730409E04Rik A G 4: 126,505,525 (GRCm39) S18G probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Aff4 C T 11: 53,297,466 (GRCm39) S896L probably benign Het
Ankrd27 T C 7: 35,318,822 (GRCm39) I571T probably damaging Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Carm1 C T 9: 21,458,323 (GRCm39) T7M unknown Het
Ccdc183 A G 2: 25,506,296 (GRCm39) V100A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam2 T G 7: 25,220,341 (GRCm39) D239A probably benign Het
Cfap96 T A 8: 46,423,444 (GRCm39) E89D possibly damaging Het
Cimap1c T A 9: 56,757,262 (GRCm39) M139L possibly damaging Het
Cmya5 T C 13: 93,231,836 (GRCm39) D1084G probably benign Het
Col20a1 C T 2: 180,636,007 (GRCm39) Q211* probably null Het
Col9a1 T A 1: 24,234,498 (GRCm39) L13Q unknown Het
Cracr2a A T 6: 127,585,669 (GRCm39) M156L probably benign Het
Cts8 C T 13: 61,399,505 (GRCm39) M151I possibly damaging Het
Cyp2ab1 A T 16: 20,135,469 (GRCm39) L11Q probably null Het
Dhrs13 T A 11: 77,925,208 (GRCm39) C160S probably benign Het
Enthd1 T A 15: 80,358,415 (GRCm39) E368D probably damaging Het
Fbh1 A G 2: 11,760,522 (GRCm39) I676T probably damaging Het
Fcgrt T C 7: 44,751,421 (GRCm39) R176G probably benign Het
Gatd1 A G 7: 140,990,947 (GRCm39) F67L possibly damaging Het
Gm4353 G A 7: 115,683,727 (GRCm39) P23S probably damaging Het
Gm6882 T A 7: 21,161,677 (GRCm39) I64F possibly damaging Het
Grwd1 A T 7: 45,480,204 (GRCm39) M1K probably null Het
Hook2 T A 8: 85,718,046 (GRCm39) S58T probably benign Het
Iqch T G 9: 63,329,117 (GRCm39) *1072C probably null Het
Kmt2d G A 15: 98,748,267 (GRCm39) T3019I unknown Het
Lmx1a T C 1: 167,674,247 (GRCm39) S356P probably benign Het
Lrig3 A G 10: 125,842,712 (GRCm39) M546V probably benign Het
Lrrc1 C A 9: 77,379,504 (GRCm39) E96* probably null Het
Lrtm2 C A 6: 119,294,113 (GRCm39) M339I probably damaging Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Map7d1 A G 4: 126,130,778 (GRCm39) C384R probably damaging Het
Mcur1 T C 13: 43,698,012 (GRCm39) D296G probably damaging Het
Mettl24 A T 10: 40,686,508 (GRCm39) H295L probably damaging Het
Mgat4f T C 1: 134,318,163 (GRCm39) S312P probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Mrps5 T C 2: 127,437,617 (GRCm39) V148A probably benign Het
N4bp2 T C 5: 65,964,891 (GRCm39) V980A probably damaging Het
Ncaph A T 2: 126,958,506 (GRCm39) D504E probably damaging Het
Nxph1 A G 6: 9,247,497 (GRCm39) N156S probably damaging Het
Or2t26 T A 11: 49,040,012 (GRCm39) C309* probably null Het
Or4f14b T A 2: 111,775,501 (GRCm39) Q100L probably damaging Het
Pafah1b3 T A 7: 24,994,657 (GRCm39) I186L probably benign Het
Papola C A 12: 105,775,790 (GRCm39) N235K possibly damaging Het
Pcnx3 A T 19: 5,737,527 (GRCm39) M98K probably benign Het
Pip4p1 A C 14: 51,167,634 (GRCm39) M104R possibly damaging Het
Pkhd1l1 A G 15: 44,330,800 (GRCm39) N125S probably damaging Het
Pls1 T A 9: 95,655,612 (GRCm39) H380L probably benign Het
Plxna1 T C 6: 89,300,311 (GRCm39) T1591A possibly damaging Het
Pparg T G 6: 115,418,581 (GRCm39) S147A probably benign Het
Prdm10 T C 9: 31,279,003 (GRCm39) S1025P probably benign Het
Prkcd T A 14: 30,321,664 (GRCm39) H510L probably damaging Het
Ptprh T A 7: 4,572,480 (GRCm39) E499D possibly damaging Het
Rad51ap1 A G 6: 126,901,983 (GRCm39) S256P probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Rnf207 A G 4: 152,396,634 (GRCm39) I459T probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Ryr3 A T 2: 112,731,188 (GRCm39) D727E probably damaging Het
Sdk2 C T 11: 113,720,795 (GRCm39) R1378H possibly damaging Het
Slc7a11 A G 3: 50,397,680 (GRCm39) S11P probably benign Het
Sox4 A G 13: 29,137,000 (GRCm39) V2A probably damaging Het
Srf A G 17: 46,866,318 (GRCm39) F146S probably damaging Het
Srrm2 T C 17: 24,035,747 (GRCm39) V797A unknown Het
Stk32c T C 7: 138,684,218 (GRCm39) D463G possibly damaging Het
Syne2 C A 12: 76,018,654 (GRCm39) Y3384* probably null Het
Tektl1 T C 10: 78,588,324 (GRCm39) D162G probably damaging Het
Traip T A 9: 107,838,184 (GRCm39) M139K possibly damaging Het
Trappc2l T A 8: 123,341,051 (GRCm39) F100Y probably damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Uty A G Y: 1,099,691 (GRCm39) V1168A probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Zdbf2 C T 1: 63,334,120 (GRCm39) R31C possibly damaging Het
Other mutations in Cog5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cog5 APN 12 31,735,703 (GRCm39) missense probably damaging 1.00
IGL00495:Cog5 APN 12 31,887,308 (GRCm39) missense probably benign 0.06
IGL00763:Cog5 APN 12 31,715,531 (GRCm39) splice site probably benign
IGL00789:Cog5 APN 12 31,810,951 (GRCm39) missense possibly damaging 0.95
IGL01288:Cog5 APN 12 31,936,205 (GRCm39) missense probably benign 0.13
IGL01315:Cog5 APN 12 31,810,985 (GRCm39) splice site probably benign
IGL01396:Cog5 APN 12 31,944,095 (GRCm39) missense probably benign 0.01
IGL02468:Cog5 APN 12 31,887,357 (GRCm39) critical splice donor site probably null
IGL03030:Cog5 APN 12 31,840,921 (GRCm39) missense probably damaging 0.99
IGL03346:Cog5 APN 12 31,944,037 (GRCm39) missense possibly damaging 0.88
R0201:Cog5 UTSW 12 31,889,840 (GRCm39) missense probably damaging 0.99
R0356:Cog5 UTSW 12 31,887,180 (GRCm39) splice site probably benign
R0492:Cog5 UTSW 12 31,919,460 (GRCm39) missense probably damaging 1.00
R0646:Cog5 UTSW 12 31,887,358 (GRCm39) splice site probably benign
R0971:Cog5 UTSW 12 31,969,677 (GRCm39) missense probably benign 0.11
R1158:Cog5 UTSW 12 31,920,056 (GRCm39) splice site probably benign
R1997:Cog5 UTSW 12 31,710,848 (GRCm39) missense possibly damaging 0.66
R2167:Cog5 UTSW 12 31,887,288 (GRCm39) missense probably damaging 0.99
R4414:Cog5 UTSW 12 31,710,853 (GRCm39) nonsense probably null
R4755:Cog5 UTSW 12 31,919,405 (GRCm39) splice site probably null
R4836:Cog5 UTSW 12 31,969,732 (GRCm39) missense probably benign 0.07
R5017:Cog5 UTSW 12 31,970,604 (GRCm39) missense probably benign 0.29
R5256:Cog5 UTSW 12 31,936,204 (GRCm39) missense probably benign
R5986:Cog5 UTSW 12 31,710,716 (GRCm39) missense probably benign 0.03
R6131:Cog5 UTSW 12 31,936,220 (GRCm39) missense possibly damaging 0.47
R6885:Cog5 UTSW 12 31,944,198 (GRCm39) missense probably damaging 1.00
R7056:Cog5 UTSW 12 31,715,468 (GRCm39) missense possibly damaging 0.65
R7182:Cog5 UTSW 12 31,735,707 (GRCm39) missense probably damaging 1.00
R7418:Cog5 UTSW 12 31,883,240 (GRCm39) missense probably damaging 1.00
R7445:Cog5 UTSW 12 31,969,671 (GRCm39) missense possibly damaging 0.64
R7585:Cog5 UTSW 12 31,810,888 (GRCm39) missense probably damaging 1.00
R8332:Cog5 UTSW 12 31,883,222 (GRCm39) nonsense probably null
R8722:Cog5 UTSW 12 31,969,703 (GRCm39) missense possibly damaging 0.82
R8781:Cog5 UTSW 12 31,883,249 (GRCm39) missense probably damaging 1.00
R8911:Cog5 UTSW 12 31,883,238 (GRCm39) missense probably damaging 1.00
R8979:Cog5 UTSW 12 31,840,894 (GRCm39) missense probably benign 0.00
R9153:Cog5 UTSW 12 31,710,810 (GRCm39) missense possibly damaging 0.87
X0062:Cog5 UTSW 12 31,735,691 (GRCm39) missense probably benign 0.01
Z1177:Cog5 UTSW 12 31,851,984 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCATTTGGGAGACAGAG -3'
(R):5'- GTACTTAAACACGCTCTACTCTGC -3'

Sequencing Primer
(F):5'- GAGTTCCAGGACTGTCTGCTC -3'
(R):5'- TCTGCAACACATCCTCCATG -3'
Posted On 2019-06-26