Incidental Mutation 'R5482:Usp2'
| ID |
434391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
043043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5482 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 44000480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065461]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000175816]
[ENSMUST00000176416]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000185479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.6%
|
| Validation Efficiency |
99% (68/69) |
| 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 |
|---|
| 9230109A22Rik |
T |
C |
15: 25,139,036 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,968,370 (GRCm39) |
L801P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,984,613 (GRCm39) |
D212G |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,217,964 (GRCm39) |
D166N |
probably damaging |
Het |
| Acy1 |
T |
C |
9: 106,311,838 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,942,360 (GRCm39) |
N1368S |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,375,600 (GRCm39) |
I344T |
probably benign |
Het |
| Aplp1 |
A |
G |
7: 30,139,600 (GRCm39) |
F399S |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,727 (GRCm39) |
S1302P |
possibly damaging |
Het |
| Bik |
T |
G |
15: 83,428,335 (GRCm39) |
V121G |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,948,777 (GRCm39) |
M3069L |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,685 (GRCm39) |
T4237A |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,670,557 (GRCm39) |
N59D |
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,884,496 (GRCm39) |
S328G |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,838 (GRCm39) |
G1067R |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,550,469 (GRCm39) |
F132I |
probably damaging |
Het |
| Dipk1a |
C |
G |
5: 108,057,529 (GRCm39) |
C343S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,019,521 (GRCm39) |
E3865K |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,855,937 (GRCm39) |
R741* |
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,815,654 (GRCm39) |
L3796F |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5535 |
C |
A |
2: 144,016,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,695,055 (GRCm39) |
M202K |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,965,360 (GRCm39) |
M489L |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,418 (GRCm39) |
I254T |
probably benign |
Het |
| Lrrn3 |
G |
A |
12: 41,502,386 (GRCm39) |
L644F |
probably benign |
Het |
| Lrrn3 |
A |
C |
12: 41,502,387 (GRCm39) |
C643W |
probably damaging |
Het |
| Nr2f6 |
A |
T |
8: 71,827,182 (GRCm39) |
I373N |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,269 (GRCm39) |
T135A |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,308,947 (GRCm39) |
Y129H |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,802 (GRCm39) |
I1043F |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,523,154 (GRCm39) |
T302I |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,864,585 (GRCm39) |
N127D |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,474,435 (GRCm39) |
F876L |
probably benign |
Het |
| Pip5k1c |
A |
G |
10: 81,128,897 (GRCm39) |
E2G |
probably damaging |
Het |
| Ppp1r18 |
G |
A |
17: 36,184,771 (GRCm39) |
E141K |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,168,563 (GRCm39) |
Y247* |
probably null |
Het |
| Ripply2 |
A |
G |
9: 86,897,620 (GRCm39) |
E8G |
possibly damaging |
Het |
| Rufy3 |
TAAGCA |
TA |
5: 88,785,191 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
G |
4: 112,483,076 (GRCm39) |
C160W |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,621,712 (GRCm39) |
R172Q |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,028 (GRCm39) |
L307P |
possibly damaging |
Het |
| Tlcd3b |
A |
G |
7: 126,426,660 (GRCm39) |
T78A |
possibly damaging |
Het |
| Trappc12 |
T |
C |
12: 28,741,324 (GRCm39) |
K795R |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,979,203 (GRCm39) |
M269L |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,642,418 (GRCm39) |
S638P |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,285 (GRCm39) |
E620V |
possibly damaging |
Het |
| Wdr36 |
A |
T |
18: 32,974,957 (GRCm39) |
H103L |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,423,392 (GRCm39) |
T78A |
probably benign |
Het |
| Zc2hc1b |
C |
T |
10: 13,029,270 (GRCm39) |
R146Q |
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 |
|
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 |
|
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'- AAATAGGCATTCCTCCCTGC -3'
(R):5'- GGCAACTTCCTTTTAGCAGTGC -3'
Sequencing Primer
(F):5'- TGCTCTCCAAGACCCAGACAG -3'
(R):5'- AGCAGTGCTTCCTGCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation