Incidental Mutation 'IGL02138:Copb2'
ID |
281431 |
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 # |
IGL02138
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98469605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 829
(P829S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
[ENSMUST00000035034]
|
AlphaFold |
O55029 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035033
AA Change: P829S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035033 Gene: ENSMUSG00000032458 AA Change: P829S
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 |
probably benign
Transcript: ENSMUST00000035034
|
SMART Domains |
Protein: ENSMUSP00000035034 Gene: ENSMUSG00000032459
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
63 |
N/A |
INTRINSIC |
Pfam:MRP-S22
|
67 |
308 |
7.5e-111 |
PFAM |
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195540
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,175,991 (GRCm39) |
V18A |
probably benign |
Het |
Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
Hacl1 |
A |
G |
14: 31,352,940 (GRCm39) |
L149P |
probably benign |
Het |
Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,141,284 (GRCm39) |
S696P |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sntg2 |
T |
A |
12: 30,357,230 (GRCm39) |
|
probably null |
Het |
Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,434,226 (GRCm39) |
|
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
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 |
|
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 |
IGL01906:Copb2
|
APN |
9 |
98,462,383 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02129:Copb2
|
APN |
9 |
98,467,976 (GRCm39) |
unclassified |
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 |
2015-04-16 |