Incidental Mutation 'R5745:Copb2'
ID |
445756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copb2
|
Ensembl Gene |
ENSMUSG00000032458 |
Gene Name |
COPI coat complex subunit beta 2 |
Synonyms |
|
MMRRC Submission |
043198-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5745 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
98445784-98470428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98456164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 233
(S233P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035033]
|
AlphaFold |
O55029 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035033
AA Change: S233P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035033 Gene: ENSMUSG00000032458 AA Change: S233P
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: ENSMUST00000214600
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
Ephb1 |
C |
T |
9: 102,072,633 (GRCm39) |
D49N |
probably benign |
Het |
Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
Fpr1 |
A |
G |
17: 18,097,344 (GRCm39) |
I215T |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
Intu |
A |
G |
3: 40,647,402 (GRCm39) |
|
probably null |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6c5c |
T |
A |
10: 129,299,307 (GRCm39) |
I254N |
probably damaging |
Het |
Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
Shoc2 |
C |
A |
19: 54,018,323 (GRCm39) |
T485K |
probably benign |
Het |
Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly 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 |
|
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 |
|
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'- CAGTGAATGTTGTGATGTAACCGTG -3'
(R):5'- CTAGATTCCTAGTCATGATATGGAAGC -3'
Sequencing Primer
(F):5'- TGGTACACATTTCACCACATGC -3'
(R):5'- CCTAGTCATGATATGGAAGCTGCTAG -3'
|
Posted On |
2016-11-21 |