Incidental Mutation 'R0742:Copg2'
ID |
70723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Copg2
|
Ensembl Gene |
ENSMUSG00000025607 |
Gene Name |
coatomer protein complex, subunit gamma 2 |
Synonyms |
|
MMRRC Submission |
038923-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R0742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
30747552-30873712 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 30840548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126726
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048774]
[ENSMUST00000166192]
|
AlphaFold |
Q9QXK3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048774
|
SMART Domains |
Protein: ENSMUSP00000038368 Gene: ENSMUSG00000025607
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
23 |
539 |
2.6e-134 |
PFAM |
Pfam:COP-gamma_platf
|
609 |
756 |
7.7e-66 |
PFAM |
Pfam:Coatomer_g_Cpla
|
758 |
870 |
1.6e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135230
|
SMART Domains |
Protein: ENSMUSP00000119995 Gene: ENSMUSG00000025607
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
23 |
246 |
1.3e-53 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166192
|
SMART Domains |
Protein: ENSMUSP00000126726 Gene: ENSMUSG00000025607
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
23 |
380 |
6.5e-92 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
A |
6: 58,655,311 (GRCm39) |
D415E |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
Aldh3b2 |
G |
A |
19: 4,031,034 (GRCm39) |
G428S |
probably damaging |
Het |
Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
Casd1 |
T |
C |
6: 4,635,888 (GRCm39) |
|
probably null |
Het |
Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
|
Other mutations in Copg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02324:Copg2
|
APN |
6 |
30,840,469 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02511:Copg2
|
APN |
6 |
30,835,757 (GRCm39) |
missense |
probably benign |
0.00 |
R0612:Copg2
|
UTSW |
6 |
30,838,404 (GRCm39) |
splice site |
probably null |
|
R0723:Copg2
|
UTSW |
6 |
30,792,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1708:Copg2
|
UTSW |
6 |
30,801,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Copg2
|
UTSW |
6 |
30,787,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Copg2
|
UTSW |
6 |
30,789,777 (GRCm39) |
missense |
probably benign |
0.00 |
R2011:Copg2
|
UTSW |
6 |
30,793,676 (GRCm39) |
critical splice donor site |
probably null |
|
R2170:Copg2
|
UTSW |
6 |
30,789,757 (GRCm39) |
frame shift |
probably null |
|
R2358:Copg2
|
UTSW |
6 |
30,803,168 (GRCm39) |
nonsense |
probably null |
|
R2393:Copg2
|
UTSW |
6 |
30,787,893 (GRCm39) |
missense |
probably benign |
0.00 |
R2512:Copg2
|
UTSW |
6 |
30,873,591 (GRCm39) |
splice site |
probably null |
|
R4595:Copg2
|
UTSW |
6 |
30,749,449 (GRCm39) |
missense |
probably damaging |
0.98 |
R4613:Copg2
|
UTSW |
6 |
30,788,531 (GRCm39) |
missense |
probably benign |
|
R5243:Copg2
|
UTSW |
6 |
30,750,626 (GRCm39) |
missense |
probably benign |
0.01 |
R5293:Copg2
|
UTSW |
6 |
30,803,162 (GRCm39) |
missense |
probably damaging |
0.98 |
R6019:Copg2
|
UTSW |
6 |
30,787,868 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6235:Copg2
|
UTSW |
6 |
30,793,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Copg2
|
UTSW |
6 |
30,835,757 (GRCm39) |
missense |
probably benign |
0.31 |
R6857:Copg2
|
UTSW |
6 |
30,840,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7132:Copg2
|
UTSW |
6 |
30,792,931 (GRCm39) |
missense |
probably benign |
0.00 |
R7216:Copg2
|
UTSW |
6 |
30,862,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R7223:Copg2
|
UTSW |
6 |
30,789,689 (GRCm39) |
nonsense |
probably null |
|
R7288:Copg2
|
UTSW |
6 |
30,801,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R7588:Copg2
|
UTSW |
6 |
30,788,526 (GRCm39) |
critical splice donor site |
probably null |
|
R7993:Copg2
|
UTSW |
6 |
30,793,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R8005:Copg2
|
UTSW |
6 |
30,873,632 (GRCm39) |
start codon destroyed |
possibly damaging |
0.63 |
R8191:Copg2
|
UTSW |
6 |
30,790,665 (GRCm39) |
missense |
probably benign |
0.00 |
R8273:Copg2
|
UTSW |
6 |
30,793,061 (GRCm39) |
missense |
probably benign |
0.05 |
R8853:Copg2
|
UTSW |
6 |
30,803,115 (GRCm39) |
missense |
probably benign |
0.44 |
R9256:Copg2
|
UTSW |
6 |
30,788,637 (GRCm39) |
missense |
probably benign |
0.01 |
R9377:Copg2
|
UTSW |
6 |
30,793,721 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9443:Copg2
|
UTSW |
6 |
30,750,578 (GRCm39) |
missense |
probably benign |
0.26 |
R9451:Copg2
|
UTSW |
6 |
30,793,786 (GRCm39) |
splice site |
probably benign |
|
R9523:Copg2
|
UTSW |
6 |
30,749,505 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9583:Copg2
|
UTSW |
6 |
30,787,399 (GRCm39) |
nonsense |
probably null |
|
R9698:Copg2
|
UTSW |
6 |
30,838,373 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Copg2
|
UTSW |
6 |
30,786,520 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTTGAGAAGATTGAGACCTCAGAA -3'
(R):5'- TCACCACCACTATCGCCATCACTATT -3'
Sequencing Primer
(F):5'- GAAGATTGAGACCTCAGAAATACAC -3'
(R):5'- AAACTTGGTTATGTTCACCACTC -3'
|
Posted On |
2013-09-30 |