Incidental Mutation 'IGL02103:Usp2'
| ID |
279863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 44000425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000175816]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000185479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034508
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
280 |
610 |
8.4e-75 |
PFAM |
|
Pfam:UCH_1
|
281 |
592 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065461
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
57 |
387 |
7.5e-79 |
PFAM |
|
Pfam:UCH_1
|
58 |
369 |
2.1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114830
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
280 |
610 |
2.9e-78 |
PFAM |
|
Pfam:UCH_1
|
281 |
592 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162126
|
| SMART Domains |
Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
RING
|
371 |
412 |
1.57e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176416
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
54 |
384 |
7.3e-79 |
PFAM |
|
Pfam:UCH_1
|
55 |
366 |
2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177054
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
280 |
610 |
2.9e-78 |
PFAM |
|
Pfam:UCH_1
|
281 |
592 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185479
|
| SMART Domains |
Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
RING
|
371 |
412 |
1.57e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,659,138 (GRCm39) |
T206M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,390 (GRCm39) |
V22D |
possibly damaging |
Het |
| Alb |
G |
A |
5: 90,611,990 (GRCm39) |
E140K |
probably benign |
Het |
| Aph1a |
G |
A |
3: 95,803,125 (GRCm39) |
V193I |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,299,755 (GRCm39) |
R178* |
probably null |
Het |
| Celf3 |
A |
T |
3: 94,394,108 (GRCm39) |
Q137L |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,635 (GRCm39) |
D2151G |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,079,625 (GRCm39) |
S353T |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,194,414 (GRCm39) |
L1709R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,199 (GRCm39) |
I1939T |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,450,130 (GRCm39) |
N149I |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,142,558 (GRCm39) |
D472G |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,702,762 (GRCm39) |
Y1700C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,122 (GRCm39) |
R1406S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,348 (GRCm39) |
T747K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,923 (GRCm39) |
M795V |
probably benign |
Het |
| Gm5916 |
A |
G |
9: 36,039,970 (GRCm39) |
L6P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,355 (GRCm39) |
F77L |
possibly damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,395,976 (GRCm39) |
S654P |
possibly damaging |
Het |
| Kdm5c |
T |
A |
X: 151,031,762 (GRCm39) |
F408L |
probably damaging |
Het |
| Kel |
A |
G |
6: 41,679,323 (GRCm39) |
S147P |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,888,307 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,977 (GRCm39) |
V174D |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,502,007 (GRCm39) |
M247K |
possibly damaging |
Het |
| Mx2 |
A |
C |
16: 97,345,795 (GRCm39) |
D71A |
probably damaging |
Het |
| Nxt1 |
G |
T |
2: 148,517,564 (GRCm39) |
E102* |
probably null |
Het |
| Or14j1 |
A |
G |
17: 38,146,169 (GRCm39) |
Q93R |
possibly damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,862 (GRCm39) |
F65S |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,005 (GRCm39) |
N195S |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,161 (GRCm39) |
V707E |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,667,768 (GRCm39) |
V640E |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,282 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
A |
T |
1: 149,776,950 (GRCm39) |
D55E |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,059,501 (GRCm39) |
R1276L |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,290,540 (GRCm39) |
W539* |
probably null |
Het |
| Rae1 |
G |
A |
2: 172,845,306 (GRCm39) |
E33K |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,563 (GRCm39) |
F512I |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,602,952 (GRCm39) |
D823G |
possibly damaging |
Het |
| Samt3 |
A |
T |
X: 85,090,759 (GRCm39) |
Q217L |
probably damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,605,438 (GRCm39) |
N134S |
probably null |
Het |
| Selenoo |
T |
C |
15: 88,984,173 (GRCm39) |
V663A |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,284 (GRCm39) |
T254N |
probably damaging |
Het |
| Spdya |
A |
G |
17: 71,885,242 (GRCm39) |
K232R |
probably benign |
Het |
| Stom |
A |
T |
2: 35,210,401 (GRCm39) |
V201E |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,302,334 (GRCm39) |
K108R |
possibly damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,926 (GRCm39) |
S53P |
probably damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,349 (GRCm39) |
G47D |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,623,318 (GRCm39) |
L1805W |
probably damaging |
Het |
| Washc3 |
A |
T |
10: 88,037,687 (GRCm39) |
Q22L |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,546 (GRCm39) |
D1761V |
probably damaging |
Het |
|
| Other mutations in Usp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Usp2
|
APN |
9 |
44,000,462 (GRCm39) |
nonsense |
probably null |
|
|
IGL01574:Usp2
|
APN |
9 |
44,005,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Usp2
|
APN |
9 |
44,002,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Usp2
|
UTSW |
9 |
44,004,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Usp2
|
UTSW |
9 |
44,004,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Usp2
|
UTSW |
9 |
44,003,789 (GRCm39) |
nonsense |
probably null |
|
|
R1553:Usp2
|
UTSW |
9 |
44,003,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1851:Usp2
|
UTSW |
9 |
43,987,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2437:Usp2
|
UTSW |
9 |
44,003,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3962:Usp2
|
UTSW |
9 |
43,986,954 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4392:Usp2
|
UTSW |
9 |
44,002,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Usp2
|
UTSW |
9 |
44,002,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Usp2
|
UTSW |
9 |
43,987,125 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4960:Usp2
|
UTSW |
9 |
43,987,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Usp2
|
UTSW |
9 |
44,000,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5496:Usp2
|
UTSW |
9 |
43,996,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5932:Usp2
|
UTSW |
9 |
44,003,630 (GRCm39) |
missense |
probably benign |
|
|
R6956:Usp2
|
UTSW |
9 |
44,004,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Usp2
|
UTSW |
9 |
44,001,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Usp2
|
UTSW |
9 |
43,987,266 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7635:Usp2
|
UTSW |
9 |
43,978,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7707:Usp2
|
UTSW |
9 |
43,984,757 (GRCm39) |
splice site |
probably null |
|
|
R8493:Usp2
|
UTSW |
9 |
43,987,350 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8744:Usp2
|
UTSW |
9 |
43,998,510 (GRCm39) |
intron |
probably benign |
|
|
R8888:Usp2
|
UTSW |
9 |
43,986,894 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9035:Usp2
|
UTSW |
9 |
43,987,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Usp2
|
UTSW |
9 |
44,000,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Usp2
|
UTSW |
9 |
44,003,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF007:Usp2
|
UTSW |
9 |
44,000,418 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF012:Usp2
|
UTSW |
9 |
44,000,427 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF015:Usp2
|
UTSW |
9 |
44,000,406 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF036:Usp2
|
UTSW |
9 |
44,000,421 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF046:Usp2
|
UTSW |
9 |
44,000,408 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF051:Usp2
|
UTSW |
9 |
44,000,426 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF053:Usp2
|
UTSW |
9 |
44,000,426 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation