Incidental Mutation 'R0385:Usp2'
| ID |
31234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
038591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 44004047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 305
(T305R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135482
(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: T531R
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: T531R
| 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: T308R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: T308R
| 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: T531R
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: T531R
| 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: T531R
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: T531R
| 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 damaging
Transcript: ENSMUST00000176416
AA Change: T305R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: T305R
| 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 |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,122,574 (GRCm39) |
N331S |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,142 (GRCm39) |
N189S |
probably benign |
Het |
| Apc |
T |
A |
18: 34,448,997 (GRCm39) |
N1930K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,171,601 (GRCm39) |
D391G |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,720,334 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,987,216 (GRCm39) |
E471G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,714,023 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,553 (GRCm39) |
M51L |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,972,875 (GRCm39) |
A254T |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,433 (GRCm39) |
L1044H |
probably damaging |
Het |
| Dkk3 |
A |
C |
7: 111,757,430 (GRCm39) |
M58R |
probably damaging |
Het |
| Dpy19l3 |
G |
A |
7: 35,452,130 (GRCm39) |
R5W |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,416,711 (GRCm39) |
P871S |
probably damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,670 (GRCm39) |
S131T |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,745,555 (GRCm39) |
G314R |
probably damaging |
Het |
| Entr1 |
T |
C |
2: 26,277,671 (GRCm39) |
E41G |
possibly damaging |
Het |
| Fam222b |
C |
A |
11: 78,045,756 (GRCm39) |
P439Q |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,776,970 (GRCm39) |
I369F |
probably benign |
Het |
| Fdps |
G |
A |
3: 89,002,201 (GRCm39) |
S205F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,663,773 (GRCm39) |
V252E |
possibly damaging |
Het |
| Frmd5 |
A |
G |
2: 121,386,055 (GRCm39) |
Y230H |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,171 (GRCm39) |
V88I |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,272,387 (GRCm39) |
I1009T |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,016 (GRCm39) |
D310E |
probably benign |
Het |
| Klk4 |
T |
C |
7: 43,533,432 (GRCm39) |
M97T |
probably benign |
Het |
| Krt82 |
C |
T |
15: 101,454,028 (GRCm39) |
V227M |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,587 (GRCm39) |
V226A |
probably damaging |
Het |
| Mbd1 |
AGCTGACTCGGTAC |
A |
18: 74,406,312 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
T |
C |
2: 5,008,965 (GRCm39) |
K335E |
possibly damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,030,611 (GRCm39) |
D62G |
possibly damaging |
Het |
| Nasp |
A |
T |
4: 116,467,892 (GRCm39) |
N364K |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,573 (GRCm39) |
N317D |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,005,777 (GRCm39) |
V619A |
possibly damaging |
Het |
| Oser1 |
C |
T |
2: 163,253,316 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,268 (GRCm39) |
F526S |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,967 (GRCm39) |
N444S |
probably damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,815,501 (GRCm39) |
Q89* |
probably null |
Het |
| Ptprb |
A |
G |
10: 116,186,083 (GRCm39) |
I1713V |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,046,902 (GRCm39) |
Y442H |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,837,259 (GRCm39) |
I152N |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,823 (GRCm39) |
S1568P |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,618 (GRCm39) |
V357E |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,678,324 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sf3b4 |
T |
C |
3: 96,080,298 (GRCm39) |
Y16H |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,668,619 (GRCm39) |
V449I |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,058,409 (GRCm39) |
I648M |
probably benign |
Het |
| Slc25a25 |
T |
A |
2: 32,307,834 (GRCm39) |
I254F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,109 (GRCm39) |
H1307R |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,943,205 (GRCm39) |
M890I |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,175 (GRCm39) |
M468R |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,916,817 (GRCm39) |
S56P |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,375,443 (GRCm39) |
|
probably null |
Het |
| Tmco3 |
T |
G |
8: 13,346,027 (GRCm39) |
C288W |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,830,911 (GRCm39) |
Y145H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,712,061 (GRCm39) |
|
probably benign |
Het |
| Usb1 |
G |
T |
8: 96,071,946 (GRCm39) |
W215C |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,187,690 (GRCm39) |
S283N |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,256,381 (GRCm39) |
K467E |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,604 (GRCm39) |
S1121Y |
probably damaging |
Het |
| Zbed6 |
A |
T |
1: 133,584,522 (GRCm39) |
D938E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTTGGTGCTCCGTATCCTTGAC -3'
(R):5'- GAAAGTGTGCCATTCGCCTGTAAC -3'
Sequencing Primer
(F):5'- TATCCTTGACTCCCAGGGTGG -3'
(R):5'- tatgtgtgtgtgtTTAGGTCAAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation