Incidental Mutation 'R4392:Usp2'
| ID |
326416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44067021-44095627 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44091259 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 384
(H384L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065379]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000175816]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000185479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034508
AA Change: H384L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: H384L
| 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: H161L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: H161L
| 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 damaging
Transcript: ENSMUST00000114830
AA Change: H384L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: H384L
| 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: ENSMUST00000175816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176022
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176416
AA Change: H158L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: H158L
| 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 damaging
Transcript: ENSMUST00000177054
AA Change: H384L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: H384L
| 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 |
0.9696 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,584,978 (GRCm38) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,309,034 (GRCm38) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,149,408 (GRCm38) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,676,249 (GRCm38) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,916,542 (GRCm38) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,698,750 (GRCm38) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,566,335 (GRCm38) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,400,280 (GRCm38) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,951,353 (GRCm38) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,353,464 (GRCm38) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,662,488 (GRCm38) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 27,029,275 (GRCm38) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,162,036 (GRCm38) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,229 (GRCm38) |
R1188H |
probably benign |
Het |
| Dopey1 |
T |
C |
9: 86,503,143 (GRCm38) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 77,090,458 (GRCm38) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 102,086,641 (GRCm38) |
|
probably null |
Het |
| Elmsan1 |
A |
T |
12: 84,173,111 (GRCm38) |
D356E |
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,943,697 (GRCm38) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,040,077 (GRCm38) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,559,491 (GRCm38) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,568,232 (GRCm38) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,117,452 (GRCm38) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 112,920,136 (GRCm38) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,827,780 (GRCm38) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,260,629 (GRCm38) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,290,143 (GRCm38) |
|
probably null |
Het |
| Lhx4 |
A |
G |
1: 155,710,134 (GRCm38) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 29,850,656 (GRCm38) |
T413A |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,397,616 (GRCm38) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,259,589 (GRCm38) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,344,881 (GRCm38) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm38) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,400,272 (GRCm38) |
Q212P |
probably damaging |
Het |
| Olfr268-ps1 |
T |
C |
2: 111,844,345 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr726 |
A |
G |
14: 50,084,603 (GRCm38) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 46,285,124 (GRCm38) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,064,351 (GRCm38) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,693,529 (GRCm38) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,032,311 (GRCm38) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,858,115 (GRCm38) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,164,788 (GRCm38) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 61,104,452 (GRCm38) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 80,967,804 (GRCm38) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,418,471 (GRCm38) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,491,224 (GRCm38) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 123,066,752 (GRCm38) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 79,024,438 (GRCm38) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,795,509 (GRCm38) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,848,538 (GRCm38) |
W207R |
probably damaging |
Het |
| Ttc26 |
A |
G |
6: 38,381,557 (GRCm38) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,211,984 (GRCm38) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,230,176 (GRCm38) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,762,476 (GRCm38) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,251,832 (GRCm38) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,139,643 (GRCm38) |
C419* |
probably null |
Het |
|
| Other mutations in Usp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Usp2
|
APN |
9 |
44,089,165 (GRCm38) |
nonsense |
probably null |
|
|
IGL01574:Usp2
|
APN |
9 |
44,093,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02103:Usp2
|
APN |
9 |
44,089,128 (GRCm38) |
intron |
probably benign |
|
|
IGL02391:Usp2
|
APN |
9 |
44,091,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0385:Usp2
|
UTSW |
9 |
44,092,750 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0555:Usp2
|
UTSW |
9 |
44,092,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0614:Usp2
|
UTSW |
9 |
44,092,492 (GRCm38) |
nonsense |
probably null |
|
|
R1553:Usp2
|
UTSW |
9 |
44,092,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1851:Usp2
|
UTSW |
9 |
44,075,966 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2437:Usp2
|
UTSW |
9 |
44,092,148 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3962:Usp2
|
UTSW |
9 |
44,075,657 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4411:Usp2
|
UTSW |
9 |
44,091,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4894:Usp2
|
UTSW |
9 |
44,075,828 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4960:Usp2
|
UTSW |
9 |
44,075,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5482:Usp2
|
UTSW |
9 |
44,089,183 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5496:Usp2
|
UTSW |
9 |
44,085,208 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5932:Usp2
|
UTSW |
9 |
44,092,333 (GRCm38) |
missense |
probably benign |
|
|
R6956:Usp2
|
UTSW |
9 |
44,092,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7007:Usp2
|
UTSW |
9 |
44,090,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7224:Usp2
|
UTSW |
9 |
44,075,969 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7635:Usp2
|
UTSW |
9 |
44,067,222 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7707:Usp2
|
UTSW |
9 |
44,073,460 (GRCm38) |
splice site |
probably null |
|
|
R8493:Usp2
|
UTSW |
9 |
44,076,053 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8744:Usp2
|
UTSW |
9 |
44,087,213 (GRCm38) |
intron |
probably benign |
|
|
R8888:Usp2
|
UTSW |
9 |
44,075,597 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9035:Usp2
|
UTSW |
9 |
44,075,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9650:Usp2
|
UTSW |
9 |
44,089,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9667:Usp2
|
UTSW |
9 |
44,092,190 (GRCm38) |
critical splice donor site |
probably null |
|
|
RF007:Usp2
|
UTSW |
9 |
44,089,121 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF012:Usp2
|
UTSW |
9 |
44,089,130 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF015:Usp2
|
UTSW |
9 |
44,089,109 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF036:Usp2
|
UTSW |
9 |
44,089,124 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF046:Usp2
|
UTSW |
9 |
44,089,111 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF051:Usp2
|
UTSW |
9 |
44,089,129 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF053:Usp2
|
UTSW |
9 |
44,089,129 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCAAGACCCAGATCCAGAG -3'
(R):5'- ACAACCCTCCTGAGCTGTAC -3'
Sequencing Primer
(F):5'- GATCCAGAGATATGCGCCACG -3'
(R):5'- ACGGTTCTCTTGAGCCAGGATTAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation