Incidental Mutation 'R5293:Copg2'
| ID |
405245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Copg2
|
| Ensembl Gene |
ENSMUSG00000025607 |
| Gene Name |
coatomer protein complex, subunit gamma 2 |
| Synonyms |
|
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R5293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30747552-30873712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30803162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 261
(N261I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048774]
[ENSMUST00000166192]
|
| AlphaFold |
Q9QXK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048774
AA Change: N261I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607
AA Change: N261I
| 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: 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 damaging
Transcript: ENSMUST00000166192
AA Change: N261I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607
AA Change: N261I
| 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: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
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 |
|
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'- GCTACCCTTAATACCCACTCTG -3'
(R):5'- GACTTGCTGATATTAAACTGATTCCAT -3'
Sequencing Primer
(F):5'- TTAATACCCACTCTGCAAGCC -3'
(R):5'- AACTGATTCCATAAGGCTGCTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation