Incidental Mutation 'RF046:Usp2'
| ID |
605025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp2
|
| Ensembl Gene |
ENSMUSG00000032010 |
| Gene Name |
ubiquitin specific peptidase 2 |
| Synonyms |
ubp41, B930035K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF046 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
43978318-44006924 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
TGACCTGTTCTTCACTTAC to TGACCTGTTCTTCACTTACTCATGCGACCTGTTCTTCACTTAC
at 44000408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034508
(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 |
probably benign
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 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 |
probably benign
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 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
TTTT |
TTTTT |
11: 30,376,249 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGGGGCGG |
18: 36,693,979 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
AATAAAGCGC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGC |
GGCCGC |
17: 5,045,865 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
G |
GTTCCCT |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
CTTTGCT |
C |
19: 56,532,564 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CATC |
CATCATC |
2: 130,612,654 (GRCm39) |
|
probably null |
Het |
| Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
CGCCGCCGCCA |
C |
2: 151,384,618 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAATCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
GGTGT |
GGTGTGGGGAGGCTACGTACTCACCCACTCCTTGTGT |
17: 23,981,148 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTGTCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
19: 4,374,535 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCT |
GCTCCCACCCCTTCT |
3: 92,925,600 (GRCm39) |
|
probably benign |
Het |
| Lcmt1 |
GGC |
GGCCGCGGGGCGC |
7: 122,969,057 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGGAGCAAGCTGAGA |
GAGGAGCAAGCTGAGATACACGTTAGCAGTTAGGAGCAAGCTGAGA |
2: 119,458,076 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTTTTTTT |
15: 44,421,891 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Pnma8a |
TA |
TAACTCATGATGCTCCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCAC |
17: 37,275,949 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,694,345 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
C |
CAGCGGG |
8: 85,682,808 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CGATCCTCCCCAGTCCCGCAAGGCCAG |
CGATCCTCCCCAGTCCCGCAAGGCCAGGGATCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,250 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
TCCTGTGAGGCCCTCTGCTGC |
TC |
2: 121,046,482 (GRCm39) |
|
probably null |
Het |
| Tusc1 |
CCGCCA |
CCGCCAACGCCA |
4: 93,223,539 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- GTCTCCACTGTAGCAGAAAATAAAG -3'
(R):5'- ATAGGAAGCTAGCTGGAGCC -3'
Sequencing Primer
(F):5'- TAGGCTACCTAGTGAGACCCTGTC -3'
(R):5'- GCTAGCTGGAGCCAGGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation