Incidental Mutation 'R4862:Copb2'
ID |
374596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copb2
|
Ensembl Gene |
ENSMUSG00000032458 |
Gene Name |
COPI coat complex subunit beta 2 |
Synonyms |
|
MMRRC Submission |
043260-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98463320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 512
(D512Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
|
AlphaFold |
O55029 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035033
AA Change: D512Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035033 Gene: ENSMUSG00000032458 AA Change: D512Y
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
|
Meta Mutation Damage Score |
0.7123 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
95% (40/42) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCACAATGACTACCTTGC -3'
(R):5'- TTATCAGAACTTACAGTCACCCTAC -3'
Sequencing Primer
(F):5'- GCTGTAAGACTGATCCTGTAGTGAAC -3'
(R):5'- GTCACCCTACCCAAACATAATTTAC -3'
|
Posted On |
2016-03-17 |