|Institutional Source||Beutler Lab|
|Gene Name||component of oligomeric golgi complex 2|
|Synonyms||2700012E02Rik, 1190002B08Rik, Cog2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6902 (G1)|
|Chromosomal Location||124520767-124552008 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 124546691 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 590 (K590E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034460 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034460]|
|Predicted Effect||probably damaging
AA Change: K590E
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: K590E
|Meta Mutation Damage Score||0.3984|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
|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||
|Other mutations in Cog2||
(F):5'- CAGTGACTCATTCCACTGCC -3'
(R):5'- AGAAACACCGTGAAATCGTTCC -3'
(F):5'- ACTGCCCTGTGTCACAGC -3'
(R):5'- TGAGTTCCAGATCAGTCAGGACTC -3'