Incidental Mutation 'IGL00518:Copb2'
ID |
4828 |
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 # |
IGL00518
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98464947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 627
(K627N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
|
AlphaFold |
O55029 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035033
AA Change: K627N
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035033 Gene: ENSMUSG00000032458 AA Change: K627N
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: ENSMUST00000187151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189395
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
C |
1: 63,610,113 (GRCm39) |
V705A |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,320,536 (GRCm39) |
L905F |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,928,828 (GRCm39) |
C782R |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,026,401 (GRCm39) |
|
probably null |
Het |
Esyt1 |
C |
T |
10: 128,357,743 (GRCm39) |
D243N |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,823,272 (GRCm39) |
|
probably benign |
Het |
Klk1b4 |
T |
C |
7: 43,860,456 (GRCm39) |
|
probably benign |
Het |
Lce1i |
T |
A |
3: 92,684,911 (GRCm39) |
R88S |
unknown |
Het |
Lrrc37a |
G |
T |
11: 103,391,177 (GRCm39) |
P1416Q |
probably benign |
Het |
Mcm6 |
C |
A |
1: 128,272,120 (GRCm39) |
A426S |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,393,244 (GRCm39) |
V3106I |
probably damaging |
Het |
Nkiras1 |
T |
G |
14: 18,278,435 (GRCm38) |
F50V |
probably benign |
Het |
Pik3r6 |
A |
T |
11: 68,425,077 (GRCm39) |
I457F |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,160,315 (GRCm39) |
K455E |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,848,978 (GRCm39) |
|
probably benign |
Het |
Serpinb9b |
T |
A |
13: 33,223,553 (GRCm39) |
F248L |
probably benign |
Het |
Sox6 |
C |
A |
7: 115,076,441 (GRCm39) |
M733I |
probably benign |
Het |
Supt20 |
T |
C |
3: 54,622,590 (GRCm39) |
S446P |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,487,416 (GRCm39) |
M530T |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,909,647 (GRCm39) |
Y150* |
probably null |
Het |
Trmt9b |
C |
T |
8: 36,979,453 (GRCm39) |
T352I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,733,726 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,303,922 (GRCm39) |
Y138H |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,542,587 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
T |
A |
11: 50,961,381 (GRCm39) |
S531T |
probably damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,281 (GRCm39) |
E363G |
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 |
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 |
|
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 |
2012-04-20 |