Incidental Mutation 'IGL02511:Copg2'
| ID |
296543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Copg2
|
| Ensembl Gene |
ENSMUSG00000025607 |
| Gene Name |
coatomer protein complex, subunit gamma 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL02511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30747552-30873712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30835757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 218
(F218Y)
|
| 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: F218Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: F218Y
| 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: F218Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: F218Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
380 |
6.5e-92 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,692,111 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,185,192 (GRCm39) |
D502V |
probably damaging |
Het |
| Adss2 |
T |
C |
1: 177,598,700 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
T |
A |
11: 5,610,845 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,873,615 (GRCm39) |
S692P |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,684,498 (GRCm39) |
M1T |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn1 |
A |
T |
15: 92,114,266 (GRCm39) |
|
probably benign |
Het |
| Dll4 |
G |
A |
2: 119,156,947 (GRCm39) |
G73E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,757,343 (GRCm39) |
M897V |
possibly damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,039,653 (GRCm39) |
R816G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,208,894 (GRCm39) |
L83P |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,115,059 (GRCm39) |
S238P |
probably damaging |
Het |
| Fermt1 |
A |
C |
2: 132,775,086 (GRCm39) |
|
probably benign |
Het |
| Gm6619 |
T |
A |
6: 131,467,330 (GRCm39) |
I65K |
possibly damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,518 (GRCm39) |
C117S |
possibly damaging |
Het |
| Ksr1 |
T |
C |
11: 78,936,046 (GRCm39) |
D106G |
possibly damaging |
Het |
| Lgr4 |
A |
T |
2: 109,841,617 (GRCm39) |
Y534F |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,356,095 (GRCm39) |
T118A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,723,975 (GRCm39) |
I170N |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,115,743 (GRCm39) |
S53P |
probably benign |
Het |
| Npl |
T |
A |
1: 153,391,227 (GRCm39) |
D176V |
probably damaging |
Het |
| Nrm |
T |
C |
17: 36,172,316 (GRCm39) |
S14P |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,995,265 (GRCm39) |
F313I |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,840,870 (GRCm39) |
M1V |
probably null |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 127,888,070 (GRCm39) |
|
probably benign |
Het |
| Pdzd4 |
T |
A |
X: 72,838,206 (GRCm39) |
M701L |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,143,731 (GRCm39) |
V3865E |
possibly damaging |
Het |
| Plxna3 |
C |
A |
X: 73,378,991 (GRCm39) |
Q712K |
probably damaging |
Het |
| Pon1 |
A |
G |
6: 5,193,724 (GRCm39) |
L9P |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,435,718 (GRCm39) |
I83F |
probably benign |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,226 (GRCm39) |
W212* |
probably null |
Het |
| Slc38a9 |
C |
A |
13: 112,834,541 (GRCm39) |
D239E |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,860,859 (GRCm39) |
F479L |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,297,251 (GRCm39) |
S48P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,768,034 (GRCm39) |
M3022L |
unknown |
Het |
| Tulp1 |
C |
A |
17: 28,575,142 (GRCm39) |
R441L |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,585 (GRCm39) |
F128L |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,420 (GRCm39) |
V686A |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,475,884 (GRCm39) |
|
probably null |
Het |
| Ushbp1 |
T |
C |
8: 71,843,581 (GRCm39) |
M286V |
probably null |
Het |
| Usp51 |
T |
G |
X: 151,791,726 (GRCm39) |
I440R |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 109,738,483 (GRCm39) |
R532L |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,243 (GRCm39) |
E1467G |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,150,602 (GRCm39) |
V269A |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation