Incidental Mutation 'IGL01574:Usp2'
| ID |
91180 |
| 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 # |
IGL01574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44005100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 378
(R378H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065379]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000177054]
[ENSMUST00000176416]
[ENSMUST00000185479]
[ENSMUST00000175816]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034508
AA Change: R601H
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: R601H
| 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: ENSMUST00000065379
|
| SMART Domains |
Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128
| 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 damaging
Transcript: ENSMUST00000065461
AA Change: R378H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: R378H
| 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 |
possibly damaging
Transcript: ENSMUST00000114830
AA Change: R601H
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: R601H
| 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: ENSMUST00000160985
|
| SMART Domains |
Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
11 |
52 |
1.57e-2 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162196
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177054
AA Change: R601H
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: R601H
| 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 |
possibly damaging
Transcript: ENSMUST00000176416
AA Change: R375H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: R375H
| 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 |
noncoding transcript
Transcript: ENSMUST00000176022
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175816
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,283 (GRCm39) |
Q295K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
| Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
| Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
| Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,572 (GRCm39) |
V818A |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,355,426 (GRCm39) |
V487A |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,257,345 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02103:Usp2
|
APN |
9 |
44,000,425 (GRCm39) |
intron |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation