Incidental Mutation 'R1553:Usp2'
| ID |
170089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
039592-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44003452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 224
(D224E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065379]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000175816]
[ENSMUST00000185479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034508
AA Change: D450E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: D450E
| 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 |
possibly damaging
Transcript: ENSMUST00000065461
AA Change: D227E
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: D227E
| 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: D450E
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: D450E
| 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 |
probably damaging
Transcript: ENSMUST00000176416
AA Change: D224E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: D224E
| 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 |
possibly damaging
Transcript: ENSMUST00000177054
AA Change: D450E
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: D450E
| 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: ENSMUST00000176022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175816
|
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
G |
T |
5: 24,613,748 (GRCm39) |
A649S |
probably damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,835 (GRCm39) |
C403S |
probably damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,766,896 (GRCm39) |
F417S |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,334,194 (GRCm39) |
E439G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,458 (GRCm39) |
V241A |
possibly damaging |
Het |
| Arhgap6 |
A |
G |
X: 168,048,480 (GRCm39) |
H566R |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,024,701 (GRCm39) |
F345I |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,493,678 (GRCm39) |
Y134H |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,368,376 (GRCm39) |
T199M |
probably damaging |
Het |
| Calb1 |
A |
T |
4: 15,895,656 (GRCm39) |
S115C |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,073,192 (GRCm39) |
I47F |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,540 (GRCm39) |
N560I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,092,370 (GRCm39) |
D747G |
probably benign |
Het |
| Cdk5rap1 |
T |
G |
2: 154,194,171 (GRCm39) |
N378T |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,111,006 (GRCm39) |
N296T |
probably benign |
Het |
| Cryaa |
G |
A |
17: 31,898,533 (GRCm39) |
V87I |
probably damaging |
Het |
| Csk |
G |
A |
9: 57,538,225 (GRCm39) |
L28F |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,156,122 (GRCm39) |
N444D |
possibly damaging |
Het |
| Cyp2j8 |
A |
G |
4: 96,363,794 (GRCm39) |
Y290H |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,480,448 (GRCm39) |
D563V |
probably damaging |
Het |
| Fam111a |
A |
T |
19: 12,564,682 (GRCm39) |
S144C |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,951 (GRCm39) |
S1145R |
probably damaging |
Het |
| Fpr2 |
T |
A |
17: 18,113,856 (GRCm39) |
V284D |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,048,340 (GRCm39) |
|
probably null |
Het |
| Gatd1 |
T |
C |
7: 140,989,806 (GRCm39) |
T135A |
probably benign |
Het |
| Gdf3 |
A |
G |
6: 122,586,724 (GRCm39) |
S68P |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,822 (GRCm39) |
H305R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,890,756 (GRCm39) |
S917G |
probably damaging |
Het |
| Hdac10 |
T |
A |
15: 89,009,718 (GRCm39) |
E388V |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,820,661 (GRCm39) |
N1176S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,322 (GRCm39) |
D3439G |
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,127,032 (GRCm39) |
Y589H |
probably benign |
Het |
| Kcnk5 |
A |
T |
14: 20,192,462 (GRCm39) |
L233Q |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,397 (GRCm39) |
I453T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,833,170 (GRCm39) |
I440T |
possibly damaging |
Het |
| Krt10 |
C |
A |
11: 99,276,806 (GRCm39) |
G40* |
probably null |
Het |
| Lce1i |
A |
T |
3: 92,685,102 (GRCm39) |
C25S |
unknown |
Het |
| Met |
A |
G |
6: 17,491,460 (GRCm39) |
N74S |
probably benign |
Het |
| Naa35 |
G |
A |
13: 59,766,093 (GRCm39) |
|
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,289,965 (GRCm39) |
N221S |
probably benign |
Het |
| Nolc1 |
AGCG |
AGCGGCG |
19: 46,069,814 (GRCm39) |
|
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,950,271 (GRCm39) |
V181A |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,848 (GRCm39) |
S393T |
probably benign |
Het |
| Or12j3 |
T |
A |
7: 139,952,951 (GRCm39) |
T191S |
probably damaging |
Het |
| Or2d3c |
A |
T |
7: 106,526,201 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or51a6 |
T |
A |
7: 102,604,425 (GRCm39) |
I128L |
possibly damaging |
Het |
| Papola |
T |
A |
12: 105,786,669 (GRCm39) |
S453R |
probably benign |
Het |
| Paqr9 |
A |
G |
9: 95,442,262 (GRCm39) |
N84S |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,572,585 (GRCm39) |
V290A |
probably benign |
Het |
| Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,406 (GRCm39) |
Y84C |
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,783 (GRCm39) |
R1021H |
probably damaging |
Het |
| Rnf114 |
G |
T |
2: 167,354,522 (GRCm39) |
R201L |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,343 (GRCm39) |
E1643G |
probably benign |
Het |
| Scg3 |
T |
A |
9: 75,576,586 (GRCm39) |
E263V |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,544,180 (GRCm39) |
R854* |
probably null |
Het |
| Setdb2 |
T |
C |
14: 59,654,934 (GRCm39) |
K319E |
probably benign |
Het |
| Stub1 |
A |
T |
17: 26,051,097 (GRCm39) |
V95E |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,471 (GRCm39) |
N96Y |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,259,482 (GRCm39) |
D1467V |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,456 (GRCm39) |
T2044S |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,770 (GRCm39) |
M438L |
probably benign |
Het |
| Tmem179 |
T |
C |
12: 112,471,094 (GRCm39) |
Y106C |
probably benign |
Het |
| Tspan7 |
A |
G |
X: 10,451,854 (GRCm39) |
H187R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,619 (GRCm39) |
D3332G |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,152 (GRCm39) |
F326S |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,483 (GRCm39) |
F53I |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,451,147 (GRCm39) |
L727H |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,870 (GRCm39) |
D176G |
possibly damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,769 (GRCm39) |
D243E |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,334,535 (GRCm39) |
P161L |
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 |
|
|
IGL01574:Usp2
|
APN |
9 |
44,005,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTCAAAACTAAGGCAAGCGTGG -3'
(R):5'- ATGCATCGTTTTCTGGCTCGGC -3'
Sequencing Primer
(F):5'- CAAGCGTGGGTGGGAAAG -3'
(R):5'- CACTGAGGAGTGACTTACTGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation