Incidental Mutation 'IGL01906:Copb2'
ID |
179677 |
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 # |
IGL01906
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98462383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 456
(E456V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
|
AlphaFold |
O55029 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035033
AA Change: E456V
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000035033 Gene: ENSMUSG00000032458 AA Change: E456V
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: ENSMUST00000186657
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
Adam1b |
A |
T |
5: 121,639,538 (GRCm39) |
N502K |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
Bst1 |
T |
C |
5: 43,994,861 (GRCm39) |
F248L |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,847,984 (GRCm39) |
V625E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
Faim2 |
G |
A |
15: 99,412,314 (GRCm39) |
T140I |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,278,591 (GRCm39) |
M82T |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
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 |
|
IGL00806:Copb2
|
APN |
9 |
98,452,717 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01599:Copb2
|
APN |
9 |
98,463,203 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2014-05-07 |