Incidental Mutation 'IGL00806:Copb2'
| ID |
13386 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Copb2
|
| Ensembl Gene |
ENSMUSG00000032458 |
| Gene Name |
COPI coat complex subunit beta 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98452717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 104
(C104R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
|
| AlphaFold |
O55029 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035033
AA Change: C104R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035033
Gene: ENSMUSG00000032458
AA Change: C104R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
43 |
1.18e-1 |
SMART |
|
WD40
|
46 |
85 |
3.9e-2 |
SMART |
|
WD40
|
88 |
127 |
4.05e-9 |
SMART |
|
WD40
|
131 |
171 |
1.51e-8 |
SMART |
|
WD40
|
174 |
215 |
7.97e-8 |
SMART |
|
WD40
|
218 |
257 |
5.9e-11 |
SMART |
|
Pfam:Coatomer_WDAD
|
319 |
763 |
3.2e-176 |
PFAM |
|
low complexity region
|
876 |
892 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214600
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for a null mutation display early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
A |
C |
8: 43,974,379 (GRCm39) |
Y208D |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,918,524 (GRCm39) |
V18D |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,647 (GRCm39) |
E76G |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,303 (GRCm39) |
I547T |
probably damaging |
Het |
| Golga1 |
A |
T |
2: 38,942,985 (GRCm39) |
L95* |
probably null |
Het |
| Itga8 |
G |
A |
2: 12,260,777 (GRCm39) |
Q224* |
probably null |
Het |
| Kcnt2 |
T |
C |
1: 140,450,949 (GRCm39) |
Y693H |
probably damaging |
Het |
| Kctd4 |
A |
T |
14: 76,200,448 (GRCm39) |
T140S |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,355,018 (GRCm39) |
S469P |
probably benign |
Het |
| Naf1 |
A |
G |
8: 67,338,452 (GRCm39) |
Q406R |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,288,667 (GRCm39) |
D107G |
probably benign |
Het |
| Rell1 |
T |
C |
5: 64,095,157 (GRCm39) |
E103G |
probably damaging |
Het |
| Rrm2b |
C |
T |
15: 37,931,866 (GRCm39) |
D45N |
probably benign |
Het |
| Setx |
A |
G |
2: 29,017,038 (GRCm39) |
Y47C |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 65,996,867 (GRCm39) |
Y462* |
probably null |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Copb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Copb2
|
APN |
9 |
98,450,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00496:Copb2
|
APN |
9 |
98,452,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00518:Copb2
|
APN |
9 |
98,464,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00642:Copb2
|
APN |
9 |
98,461,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Copb2
|
APN |
9 |
98,467,057 (GRCm39) |
missense |
probably benign |
|
|
IGL01599:Copb2
|
APN |
9 |
98,463,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01906:Copb2
|
APN |
9 |
98,462,383 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02129:Copb2
|
APN |
9 |
98,467,976 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02138:Copb2
|
APN |
9 |
98,469,605 (GRCm39) |
missense |
probably benign |
|
|
IGL03033:Copb2
|
APN |
9 |
98,452,426 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0646:Copb2
|
UTSW |
9 |
98,445,528 (GRCm39) |
unclassified |
probably benign |
|
|
R0709:Copb2
|
UTSW |
9 |
98,445,220 (GRCm39) |
unclassified |
probably benign |
|
|
R1631:Copb2
|
UTSW |
9 |
98,462,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2510:Copb2
|
UTSW |
9 |
98,453,701 (GRCm39) |
splice site |
probably benign |
|
|
R4862:Copb2
|
UTSW |
9 |
98,463,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Copb2
|
UTSW |
9 |
98,468,029 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5593:Copb2
|
UTSW |
9 |
98,469,091 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5745:Copb2
|
UTSW |
9 |
98,456,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5859:Copb2
|
UTSW |
9 |
98,450,161 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5990:Copb2
|
UTSW |
9 |
98,452,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Copb2
|
UTSW |
9 |
98,463,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7124:Copb2
|
UTSW |
9 |
98,459,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7211:Copb2
|
UTSW |
9 |
98,456,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Copb2
|
UTSW |
9 |
98,470,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7960:Copb2
|
UTSW |
9 |
98,462,407 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8311:Copb2
|
UTSW |
9 |
98,450,072 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8537:Copb2
|
UTSW |
9 |
98,469,672 (GRCm39) |
missense |
probably null |
0.00 |
|
R8982:Copb2
|
UTSW |
9 |
98,456,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9539:Copb2
|
UTSW |
9 |
98,467,983 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9762:Copb2
|
UTSW |
9 |
98,464,901 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9800:Copb2
|
UTSW |
9 |
98,461,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Copb2
|
UTSW |
9 |
98,468,199 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2012-12-06 |
Incidental Mutation