Incidental Mutation 'R6605:Copg2'
| ID |
525581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg2
|
| Ensembl Gene |
ENSMUSG00000025607 |
| Gene Name |
coatomer protein complex, subunit gamma 2 |
| Synonyms |
|
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30747552-30873712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30835757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 218
(F218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048774]
[ENSMUST00000166192]
|
| AlphaFold |
Q9QXK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048774
AA Change: F218S
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: F218S
| 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 benign
Transcript: ENSMUST00000166192
AA Change: F218S
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: F218S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
380 |
6.5e-92 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
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 |
|
R0742:Copg2
|
UTSW |
6 |
30,840,548 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TGTCTGTAAAGTCAGTGCTACCC -3'
(R):5'- GGCTACTCTGAATTTACAACTTCTGG -3'
Sequencing Primer
(F):5'- AAGTCAGTGCTACCCTAAAAATATTC -3'
(R):5'- ATGCACTAGGAGTGCTCT -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation