Incidental Mutation 'R0450:Cog2'
| ID |
39608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cog2
|
| Ensembl Gene |
ENSMUSG00000031979 |
| Gene Name |
component of oligomeric golgi complex 2 |
| Synonyms |
Cog2, 1190002B08Rik, 2700012E02Rik |
| MMRRC Submission |
038650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0450 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125247506-125278747 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 125255797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034460]
[ENSMUST00000176159]
[ENSMUST00000176279]
|
| AlphaFold |
Q921L5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034460
|
| SMART Domains |
Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979
| 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 |
probably benign
Transcript: ENSMUST00000176159
|
| SMART Domains |
Protein: ENSMUSP00000135600
Gene: ENSMUSG00000031979
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176279
|
| SMART Domains |
Protein: ENSMUSP00000135022
Gene: ENSMUSG00000031979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COG2
|
15 |
101 |
1.5e-37 |
PFAM |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 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 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
| AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
| Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
| Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
| Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Glipr1l2 |
A |
G |
10: 111,928,477 (GRCm39) |
D124G |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
| Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Mospd3 |
A |
G |
5: 137,595,294 (GRCm39) |
L233P |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
| Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
| Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
| Pcf11 |
G |
A |
7: 92,307,039 (GRCm39) |
P1043L |
probably damaging |
Het |
| Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
| Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
| Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
| Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
| Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,739,253 (GRCm39) |
V1004E |
probably benign |
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 |
|
|
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 |
|
|
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'- GCACTTAGTCTGCTGTGACCTTGG -3'
(R):5'- CGAATGATGAGCATGAACCGCCTG -3'
Sequencing Primer
(F):5'- ACAGGGATTCATTCATCTCATGC -3'
(R):5'- GTTTGTAGCACGTAACAGACTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation