Incidental Mutation 'R5496:Usp2'
| ID |
432355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| MMRRC Submission |
043057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5496 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43996505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 7
(V7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034508]
[ENSMUST00000065461]
[ENSMUST00000114830]
[ENSMUST00000162126]
[ENSMUST00000175816]
[ENSMUST00000176416]
[ENSMUST00000177054]
[ENSMUST00000185479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000065461
AA Change: V7A
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: V7A
| 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 benign
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 |
possibly damaging
Transcript: ENSMUST00000176416
AA Change: V7A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: V7A
| 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 benign
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 |
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 |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.2%
|
| 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 |
|---|
| Abcb1a |
G |
A |
5: 8,724,818 (GRCm39) |
V84I |
probably benign |
Het |
| Adam10 |
T |
G |
9: 70,630,021 (GRCm39) |
F151C |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,187,436 (GRCm39) |
S1617G |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Atmin |
A |
G |
8: 117,683,911 (GRCm39) |
T524A |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,721,766 (GRCm39) |
V584I |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,339,433 (GRCm39) |
R54C |
probably damaging |
Het |
| Cbln1 |
A |
G |
8: 88,198,324 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ccl26 |
A |
G |
5: 135,592,217 (GRCm39) |
V40A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,647 (GRCm39) |
I104N |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,855 (GRCm39) |
I359T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,509,467 (GRCm39) |
|
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,224,761 (GRCm39) |
E173G |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,828,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,404,341 (GRCm39) |
K34M |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,496,927 (GRCm39) |
M3110L |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,956 (GRCm39) |
E434G |
probably damaging |
Het |
| Ebag9 |
T |
G |
15: 44,503,816 (GRCm39) |
*214E |
probably null |
Het |
| Egln3 |
A |
T |
12: 54,250,110 (GRCm39) |
W80R |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,136,619 (GRCm39) |
Y336H |
probably benign |
Het |
| Gak |
A |
G |
5: 108,724,483 (GRCm39) |
S1076P |
probably benign |
Het |
| Glra1 |
T |
C |
11: 55,418,241 (GRCm39) |
Y168C |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,620,945 (GRCm39) |
M108K |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,393 (GRCm39) |
S59T |
possibly damaging |
Het |
| Gm8212 |
A |
T |
14: 44,438,614 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,674,507 (GRCm39) |
A457D |
probably damaging |
Het |
| H2-M11 |
T |
C |
17: 36,858,871 (GRCm39) |
F137S |
possibly damaging |
Het |
| Ighv1-55 |
C |
G |
12: 115,172,140 (GRCm39) |
W3S |
probably damaging |
Het |
| Il22 |
T |
G |
10: 118,041,002 (GRCm39) |
V36G |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,740,953 (GRCm39) |
A1904V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,766,561 (GRCm39) |
Y1481H |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,516,797 (GRCm39) |
A402V |
possibly damaging |
Het |
| Kif18b |
A |
T |
11: 102,804,568 (GRCm39) |
I362N |
possibly damaging |
Het |
| Kif5c |
C |
G |
2: 49,620,202 (GRCm39) |
A223G |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,922,245 (GRCm39) |
D948G |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,383,290 (GRCm39) |
T229A |
possibly damaging |
Het |
| Leprot |
T |
A |
4: 101,515,093 (GRCm39) |
I113N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,817,985 (GRCm39) |
D2415G |
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,481 (GRCm39) |
D171V |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,553 (GRCm39) |
Y339* |
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,378,198 (GRCm39) |
T268M |
probably damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,469 (GRCm39) |
D19G |
probably benign |
Het |
| Or52d3 |
G |
C |
7: 104,229,701 (GRCm39) |
A283P |
probably damaging |
Het |
| Or8h7 |
G |
T |
2: 86,720,658 (GRCm39) |
P287Q |
probably damaging |
Het |
| Or8h7 |
G |
C |
2: 86,720,659 (GRCm39) |
P287A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,938 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
T |
18: 61,386,736 (GRCm39) |
|
probably null |
Het |
| Prss39 |
T |
C |
1: 34,539,342 (GRCm39) |
I194T |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,709,507 (GRCm39) |
S507G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,928 (GRCm39) |
S774P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smurf1 |
C |
A |
5: 144,819,403 (GRCm39) |
E601* |
probably null |
Het |
| Stau2 |
T |
C |
1: 16,460,245 (GRCm39) |
S231G |
probably damaging |
Het |
| Timp2 |
T |
G |
11: 118,194,707 (GRCm39) |
M161L |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,197 (GRCm39) |
L167P |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,932 (GRCm39) |
A151T |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,957,534 (GRCm39) |
V807A |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,434,607 (GRCm39) |
I2232T |
unknown |
Het |
| Zfp12 |
C |
A |
5: 143,230,550 (GRCm39) |
C292* |
probably null |
Het |
| Zfp850 |
A |
C |
7: 27,706,771 (GRCm39) |
M43R |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,755 (GRCm39) |
T620M |
unknown |
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 |
|
R5482:Usp2
|
UTSW |
9 |
44,000,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TGACGTCGCAAAGCTGGAAG -3'
(R):5'- AGAGACTCATGATAGACTGGGGTTG -3'
Sequencing Primer
(F):5'- TTGAGGCGGAGAAGCGC -3'
(R):5'- TTGATCCCGGGAGCAAGCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation