Incidental Mutation 'R0614:Usp2'
| ID |
54954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
038803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 44003789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 494
(R494*)
|
| 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 null
Transcript: ENSMUST00000034508
AA Change: R494*
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: R494*
| 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 null
Transcript: ENSMUST00000065461
AA Change: R271*
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: R271*
| 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 null
Transcript: ENSMUST00000114830
AA Change: R494*
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: R494*
| 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 null
Transcript: ENSMUST00000176416
AA Change: R268*
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: R268*
| 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 null
Transcript: ENSMUST00000177054
AA Change: R494*
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: R494*
| 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 |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (61/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,340,782 (GRCm39) |
T137I |
probably benign |
Het |
| 3110082I17Rik |
C |
T |
5: 139,349,786 (GRCm39) |
V88I |
possibly damaging |
Het |
| 4930453N24Rik |
T |
A |
16: 64,586,977 (GRCm39) |
Q249L |
probably damaging |
Het |
| Ap1g2 |
C |
T |
14: 55,337,230 (GRCm39) |
V702I |
probably benign |
Het |
| Armcx5 |
G |
A |
X: 134,647,564 (GRCm39) |
E547K |
probably damaging |
Het |
| Asah2 |
C |
A |
19: 31,994,128 (GRCm39) |
V406L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,666,658 (GRCm39) |
|
probably benign |
Het |
| Axl |
C |
A |
7: 25,473,588 (GRCm39) |
R346L |
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,988,304 (GRCm39) |
R282* |
probably null |
Het |
| Card14 |
A |
G |
11: 119,213,653 (GRCm39) |
N200S |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,294,876 (GRCm39) |
T28A |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,812,017 (GRCm39) |
Q438* |
probably null |
Het |
| Dapk1 |
C |
A |
13: 60,865,946 (GRCm39) |
P181Q |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,961,394 (GRCm39) |
|
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,858,968 (GRCm39) |
|
probably null |
Het |
| Edc4 |
A |
T |
8: 106,616,028 (GRCm39) |
D801V |
possibly damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,676,430 (GRCm39) |
|
probably null |
Het |
| Eml2 |
T |
C |
7: 18,936,516 (GRCm39) |
L531P |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,400,676 (GRCm39) |
Y533C |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,877 (GRCm39) |
K1399E |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,782,987 (GRCm39) |
D446G |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,992,405 (GRCm39) |
N787K |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,871,715 (GRCm39) |
S18P |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,040 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,741,093 (GRCm39) |
D502E |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,354 (GRCm39) |
V570A |
probably damaging |
Het |
| Mga |
C |
G |
2: 119,794,947 (GRCm39) |
P2877R |
probably damaging |
Het |
| Mvd |
T |
C |
8: 123,163,292 (GRCm39) |
I313V |
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,773,739 (GRCm39) |
P270T |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,580,708 (GRCm39) |
V180L |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 165,218,536 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,705 (GRCm39) |
L56H |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,329 (GRCm39) |
I106F |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,929 (GRCm39) |
M59K |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,634,216 (GRCm39) |
P1420S |
probably benign |
Het |
| Pakap |
C |
A |
4: 57,856,720 (GRCm39) |
A926E |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,256,150 (GRCm39) |
V697M |
probably damaging |
Het |
| Plekha7 |
A |
T |
7: 115,753,880 (GRCm39) |
Y702* |
probably null |
Het |
| Plxnb3 |
A |
G |
X: 72,807,964 (GRCm39) |
|
probably benign |
Het |
| Ptgis |
A |
G |
2: 167,048,802 (GRCm39) |
F405L |
probably damaging |
Het |
| Ptprk |
C |
T |
10: 27,951,132 (GRCm39) |
P19L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,654,040 (GRCm39) |
V530A |
possibly damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,845,276 (GRCm39) |
Y299F |
probably damaging |
Het |
| Slc39a11 |
T |
A |
11: 113,414,452 (GRCm39) |
|
probably null |
Het |
| Slc6a15 |
T |
A |
10: 103,240,213 (GRCm39) |
L312* |
probably null |
Het |
| Slf1 |
T |
A |
13: 77,197,233 (GRCm39) |
M794L |
probably benign |
Het |
| Sntg2 |
G |
A |
12: 30,307,977 (GRCm39) |
T236I |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,726 (GRCm39) |
Y413C |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 75,959,127 (GRCm39) |
|
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,662,165 (GRCm39) |
N181K |
probably damaging |
Het |
| Tmem81 |
G |
A |
1: 132,435,469 (GRCm39) |
V92I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,878,615 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,735,482 (GRCm39) |
E905G |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,630,058 (GRCm39) |
R2692S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,675,171 (GRCm39) |
S2074P |
probably benign |
Het |
| Zfhx3 |
C |
G |
8: 109,675,599 (GRCm39) |
Y2216* |
probably null |
Het |
| Zfp423 |
A |
G |
8: 88,508,742 (GRCm39) |
F409S |
probably damaging |
Het |
| Zfp472 |
G |
A |
17: 33,196,908 (GRCm39) |
E328K |
possibly damaging |
Het |
| Zfp619 |
T |
A |
7: 39,187,099 (GRCm39) |
M1043K |
possibly damaging |
Het |
| Zfp940 |
T |
C |
7: 29,545,671 (GRCm39) |
I79V |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGAGAAGCCAGTAAGTCACTCC -3'
(R):5'- TGAAGCAAATTCTCTCAAGTCCAGGTC -3'
Sequencing Primer
(F):5'- TCACTCCTCAGTGACAGAACAG -3'
(R):5'- ATCCTGGATTCTGAGAATCGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation