Incidental Mutation 'R4634:Cops2'
| ID |
349394 |
| 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 |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125672222-125701002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125682400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 194
(D194Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028635]
[ENSMUST00000110462]
[ENSMUST00000110463]
|
| AlphaFold |
P61202 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028635
AA Change: D187Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206
AA Change: D187Y
| 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 damaging
Transcript: ENSMUST00000110462
AA Change: D194Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206
AA Change: D194Y
| 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 damaging
Transcript: ENSMUST00000110463
AA Change: D194Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206
AA Change: D194Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000139343
|
| Meta Mutation Damage Score |
0.8082 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,656,483 (GRCm39) |
V71M |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,885,871 (GRCm39) |
P801Q |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rabepk |
A |
G |
2: 34,670,752 (GRCm39) |
M228T |
probably damaging |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,297 (GRCm39) |
Y250F |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,663 (GRCm39) |
C181R |
probably benign |
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 |
|
|
R6344:Cops2
|
UTSW |
2 |
125,700,899 (GRCm39) |
unclassified |
probably benign |
|
|
R8038:Cops2
|
UTSW |
2 |
125,674,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8287:Cops2
|
UTSW |
2 |
125,701,037 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AGCCACTCAGTCTCATGCAATG -3'
(R):5'- AGGAAAACTTCTAGCCCCTTTTC -3'
Sequencing Primer
(F):5'- AGTCTCATGCAATGACTCCTGAC -3'
(R):5'- CCCTATCCAGGTTCCTTTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation