Incidental Mutation 'R5932:Usp2'
| ID |
461934 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44003630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 481
(I481V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135018
(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: I481V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: I481V
| 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 benign
Transcript: ENSMUST00000065461
AA Change: I258V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: I258V
| 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
AA Change: I481V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: I481V
| 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 benign
Transcript: ENSMUST00000176416
AA Change: I255V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: I255V
| 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
AA Change: I481V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: I481V
| 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 |
noncoding transcript
Transcript: ENSMUST00000176022
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,870,518 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,722,585 (GRCm39) |
L890P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,932 (GRCm39) |
M49K |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,413,295 (GRCm39) |
N1206K |
probably damaging |
Het |
| Bbs7 |
G |
A |
3: 36,636,847 (GRCm39) |
T480I |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,723,627 (GRCm39) |
E769G |
probably damaging |
Het |
| Bpgm |
T |
A |
6: 34,464,860 (GRCm39) |
S192R |
probably damaging |
Het |
| Brinp1 |
C |
A |
4: 68,711,178 (GRCm39) |
K343N |
probably benign |
Het |
| Cabyr |
T |
G |
18: 12,887,407 (GRCm39) |
V185G |
probably damaging |
Het |
| Cadm1 |
C |
A |
9: 47,710,749 (GRCm39) |
D217E |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,036,347 (GRCm39) |
E171V |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,023,570 (GRCm39) |
M825K |
possibly damaging |
Het |
| Ccdc27 |
A |
G |
4: 154,111,231 (GRCm39) |
V627A |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,141,838 (GRCm39) |
I808R |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,228,763 (GRCm39) |
R1140C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,916,905 (GRCm39) |
V356A |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,103,509 (GRCm39) |
D167V |
probably damaging |
Het |
| Chmp4b |
C |
T |
2: 154,533,201 (GRCm39) |
T147I |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,415,291 (GRCm39) |
M728K |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,809,279 (GRCm39) |
E2618V |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,274,079 (GRCm39) |
|
probably null |
Het |
| Crls1 |
T |
A |
2: 132,706,087 (GRCm39) |
Y170* |
probably null |
Het |
| Dennd2b |
G |
A |
7: 109,169,223 (GRCm39) |
T24M |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,135,074 (GRCm39) |
I569S |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,520 (GRCm39) |
Y32H |
probably damaging |
Het |
| Fibp |
G |
A |
19: 5,514,453 (GRCm39) |
G333D |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,534,650 (GRCm39) |
T156I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,730,435 (GRCm39) |
L873P |
possibly damaging |
Het |
| Gpr141b |
C |
A |
13: 19,913,646 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd3 |
G |
A |
4: 116,859,470 (GRCm39) |
R698H |
possibly damaging |
Het |
| Il17a |
T |
C |
1: 20,803,977 (GRCm39) |
V124A |
probably damaging |
Het |
| Kif14 |
A |
T |
1: 136,444,128 (GRCm39) |
E1373D |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,944 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
GGCCG |
GG |
2: 162,809,256 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,357,810 (GRCm39) |
I111T |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,796,106 (GRCm39) |
D204V |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,587,478 (GRCm39) |
R233L |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,655 (GRCm39) |
C379R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,912,045 (GRCm39) |
|
probably null |
Het |
| Neu3 |
A |
T |
7: 99,462,525 (GRCm39) |
C399* |
probably null |
Het |
| Or10ad1 |
T |
G |
15: 98,105,296 (GRCm39) |
*323S |
probably null |
Het |
| Or52e8 |
G |
A |
7: 104,624,862 (GRCm39) |
T114M |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,058,748 (GRCm39) |
R310G |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,634,693 (GRCm39) |
F713L |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,713,760 (GRCm39) |
|
probably null |
Het |
| Plin4 |
A |
G |
17: 56,413,356 (GRCm39) |
V423A |
possibly damaging |
Het |
| Pstpip1 |
T |
A |
9: 56,033,214 (GRCm39) |
Y249N |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,068,964 (GRCm39) |
C1673S |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,457,677 (GRCm39) |
T230A |
probably benign |
Het |
| Qsox1 |
A |
T |
1: 155,665,079 (GRCm39) |
D287E |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,387 (GRCm39) |
N770D |
probably damaging |
Het |
| Rtp3 |
T |
A |
9: 110,815,760 (GRCm39) |
I202F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,585,248 (GRCm39) |
|
probably null |
Het |
| Spmip7 |
A |
G |
11: 11,438,513 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
C |
G |
11: 30,086,136 (GRCm39) |
V1191L |
probably damaging |
Het |
| Tead2 |
T |
C |
7: 44,882,323 (GRCm39) |
Y121H |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,358,575 (GRCm39) |
L3P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,771,611 (GRCm39) |
V4056F |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 20,011,913 (GRCm39) |
E496G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,227 (GRCm39) |
K503E |
probably damaging |
Het |
| Zbtb46 |
A |
G |
2: 181,053,713 (GRCm39) |
L333P |
probably benign |
Het |
| Zfc3h1 |
A |
T |
10: 115,236,815 (GRCm39) |
T430S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,036,803 (GRCm39) |
R368* |
probably null |
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 |
|
|
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 |
|
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'- TGAAGAGCTCCCTCACATGC -3'
(R):5'- ATCGTTTTCTGGCTCGGCAG -3'
Sequencing Primer
(F):5'- ACATGCACCGATTGTGGCTAC -3'
(R):5'- GCGGCAGCAAGTCTAAAAGAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation