Incidental Mutation 'R8287:Cops2'
| ID |
638484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops2
|
| Ensembl Gene |
ENSMUSG00000027206 |
| Gene Name |
COP9 signalosome subunit 2 |
| Synonyms |
alien homologue, Csn2, Trip15, alien-like, Sgn2 |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125672222-125701002 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 125701037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028635]
[ENSMUST00000028636]
[ENSMUST00000110462]
[ENSMUST00000110463]
[ENSMUST00000125084]
|
| AlphaFold |
P61202 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028635
|
| SMART Domains |
Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
169 |
343 |
1.08e-64 |
SMART |
|
PINT
|
345 |
427 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
13 |
62 |
3.8e-26 |
PFAM |
|
Pfam:GHMP_kinases_N
|
120 |
187 |
1e-15 |
PFAM |
|
Pfam:GHMP_kinases_C
|
333 |
419 |
6.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110462
|
| SMART Domains |
Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
140 |
302 |
1.59e-30 |
SMART |
|
PINT
|
304 |
386 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110463
|
| SMART Domains |
Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
176 |
350 |
1.08e-64 |
SMART |
|
PINT
|
352 |
434 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125084
|
| SMART Domains |
Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
1 |
50 |
7.7e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos very soon after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Cops2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02135:Cops2
|
APN |
2 |
125,674,163 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Cops2
|
APN |
2 |
125,678,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Cops2
|
APN |
2 |
125,686,831 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02930:Cops2
|
APN |
2 |
125,674,109 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4634:Cops2
|
UTSW |
2 |
125,682,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6344:Cops2
|
UTSW |
2 |
125,700,899 (GRCm39) |
unclassified |
probably benign |
|
|
R8038:Cops2
|
UTSW |
2 |
125,674,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8297:Cops2
|
UTSW |
2 |
125,701,028 (GRCm39) |
unclassified |
probably benign |
|
|
R9642:Cops2
|
UTSW |
2 |
125,682,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCGTAGTCCTCCTCATC -3'
(R):5'- AACAGACGGTTCCAGAGTCC -3'
Sequencing Primer
(F):5'- TCATCGCACATGAAATCATCCTC -3'
(R):5'- TCACCTAGGACGCTGGATAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation