Incidental Mutation 'R5346:Cog2'
| ID |
422615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog2
|
| Ensembl Gene |
ENSMUSG00000031979 |
| Gene Name |
component of oligomeric golgi complex 2 |
| Synonyms |
Cog2, 1190002B08Rik, 2700012E02Rik |
| MMRRC Submission |
042925-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5346 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125247506-125278747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125273370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 570
(S570P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034460]
|
| AlphaFold |
Q921L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034460
AA Change: S570P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
AA Change: S570P
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
| Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
| Cntfr |
G |
T |
4: 41,675,042 (GRCm39) |
Y21* |
probably null |
Het |
| Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,036,700 (GRCm39) |
D235N |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
| Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
| Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
| Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
| Nptn |
C |
A |
9: 58,531,070 (GRCm39) |
Y64* |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
| Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,942 (GRCm39) |
G433E |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,748,232 (GRCm39) |
D4E |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
| Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
| Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
| Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
| Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
probably damaging |
Het |
|
| Other mutations in Cog2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- TGTAAATCCTTAGCTGTCTCAGTG -3'
(R):5'- AGTTGAGCTTGCTCCTGACC -3'
Sequencing Primer
(F):5'- CTAATGAACTGATTTGCTAGCACAC -3'
(R):5'- TGACCCTCCCGAGTCCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation