Incidental Mutation 'R4411:Usp2'
ID |
327921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp2
|
Ensembl Gene |
ENSMUSG00000032010 |
Gene Name |
ubiquitin specific peptidase 2 |
Synonyms |
ubp41, B930035K21Rik |
MMRRC Submission |
041693-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4411 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44002360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 351
(S351P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065379]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000185479]
[ENSMUST00000175816]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034508
AA Change: S351P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034508 Gene: ENSMUSG00000032010 AA Change: S351P
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: S128P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070264 Gene: ENSMUSG00000032010 AA Change: S128P
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: S351P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110479 Gene: ENSMUSG00000032010 AA Change: S351P
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 damaging
Transcript: ENSMUST00000176416
AA Change: S125P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135482 Gene: ENSMUSG00000032010 AA Change: S125P
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: S351P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135018 Gene: ENSMUSG00000032010 AA Change: S351P
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: 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
|
Meta Mutation Damage Score |
0.1867 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (62/65) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,042,781 (GRCm39) |
I423V |
probably benign |
Het |
Abl2 |
T |
C |
1: 156,457,652 (GRCm39) |
V306A |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,006,900 (GRCm39) |
Y1006C |
probably damaging |
Het |
Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,932,519 (GRCm39) |
R885G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,503,853 (GRCm39) |
V613E |
probably damaging |
Het |
Atxn7l1 |
G |
T |
12: 33,244,886 (GRCm39) |
|
probably benign |
Het |
Brd8 |
C |
A |
18: 34,756,497 (GRCm39) |
|
probably benign |
Het |
Bsnd |
C |
T |
4: 106,343,868 (GRCm39) |
R146H |
probably benign |
Het |
C4b |
C |
T |
17: 34,947,838 (GRCm39) |
R1659H |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,168,115 (GRCm39) |
R1080H |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,916,326 (GRCm39) |
|
probably null |
Het |
Fbxo44 |
G |
A |
4: 148,238,065 (GRCm39) |
R221C |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,881,481 (GRCm39) |
D166G |
probably damaging |
Het |
Galnt5 |
T |
C |
2: 57,889,207 (GRCm39) |
L269P |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 118,188,590 (GRCm39) |
V408A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,289,535 (GRCm39) |
T3832A |
probably benign |
Het |
Ift88 |
A |
G |
14: 57,715,436 (GRCm39) |
N493S |
probably damaging |
Het |
Ighv1-76 |
A |
T |
12: 115,811,731 (GRCm39) |
C41S |
probably damaging |
Het |
Igkv12-46 |
G |
A |
6: 69,741,930 (GRCm39) |
T16I |
probably benign |
Het |
Igkv3-9 |
G |
T |
6: 70,565,547 (GRCm39) |
V49F |
probably damaging |
Het |
Isoc2b |
A |
T |
7: 4,852,433 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
T |
A |
11: 34,037,173 (GRCm39) |
|
probably benign |
Het |
Lmntd1 |
A |
G |
6: 145,373,003 (GRCm39) |
|
probably null |
Het |
Mdm2 |
A |
T |
10: 117,545,694 (GRCm39) |
|
probably null |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
Msh2 |
T |
C |
17: 88,025,032 (GRCm39) |
S637P |
probably damaging |
Het |
Myo5b |
T |
C |
18: 74,831,345 (GRCm39) |
F765S |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
Ndor1 |
G |
A |
2: 25,138,492 (GRCm39) |
P363S |
probably benign |
Het |
Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
Pcdhb5 |
T |
C |
18: 37,455,050 (GRCm39) |
S477P |
possibly damaging |
Het |
Pde3b |
GTGATGATGATGATGATGATGATGATG |
GTGATGATGATGATGATGATGATG |
7: 114,133,984 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
G |
A |
2: 24,941,716 (GRCm39) |
W13* |
probably null |
Het |
Pnpla8 |
T |
C |
12: 44,330,225 (GRCm39) |
V41A |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,860,240 (GRCm39) |
S1017T |
probably benign |
Het |
Prdm5 |
T |
A |
6: 65,878,771 (GRCm39) |
Y108* |
probably null |
Het |
Rab34 |
T |
A |
11: 78,079,592 (GRCm39) |
|
probably null |
Het |
Skic3 |
A |
G |
13: 76,275,623 (GRCm39) |
E410G |
possibly damaging |
Het |
Smpd5 |
G |
T |
15: 76,179,112 (GRCm39) |
R160L |
possibly damaging |
Het |
Spmip10 |
A |
G |
18: 56,727,720 (GRCm39) |
T65A |
probably benign |
Het |
Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
Tas2r114 |
C |
T |
6: 131,666,585 (GRCm39) |
V148I |
probably benign |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tnfrsf25 |
G |
A |
4: 152,202,843 (GRCm39) |
|
probably benign |
Het |
Tpd52l1 |
T |
C |
10: 31,255,315 (GRCm39) |
T11A |
possibly damaging |
Het |
Trmt1l |
G |
A |
1: 151,327,905 (GRCm39) |
E472K |
probably benign |
Het |
Ttc17 |
T |
C |
2: 94,173,098 (GRCm39) |
K766E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,560,633 (GRCm39) |
R29256Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,572,414 (GRCm39) |
I26160V |
probably damaging |
Het |
Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Zfp455 |
A |
T |
13: 67,355,389 (GRCm39) |
N219I |
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 |
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'- GACCTCCTTGGGCACTCATAAG -3'
(R):5'- GGAATTCCTGAGCATCCTGC -3'
Sequencing Primer
(F):5'- TTGGGCACTCATAAGCATGC -3'
(R):5'- GCATCCTGCTGACTGAATGC -3'
|
Posted On |
2015-07-07 |