Mutagenetix > Incidental Mutations

Incidental Mutation 'R0614:Usp2'

54954

Institutional Source

Beutler Lab

Gene Symbol

Usp2

Ensembl Gene

ENSMUSG00000032010

Gene Name

ubiquitin specific peptidase 2

Synonyms

ubp41, B930035K21Rik

MMRRC Submission

038803-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44067021-44095627 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 44092492 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 494 (R494*)

Ref Sequence

ENSEMBL: ENSMUSP00000135018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034508] [ENSMUST00000065379] [ENSMUST00000065461] [ENSMUST00000114830] [ENSMUST00000162126] [ENSMUST00000175816] [ENSMUST00000176416] [ENSMUST00000177054] [ENSMUST00000185479]

Predicted Effect

probably null
Transcript: ENSMUST00000034508
AA Change: R494*

SMART Domains

Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: R494*

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 null
Transcript: ENSMUST00000065461
AA Change: R271*

SMART Domains

Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: R271*

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 null
Transcript: ENSMUST00000114830
AA Change: R494*

SMART Domains

Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: R494*

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 null
Transcript: ENSMUST00000176416
AA Change: R268*

SMART Domains

Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: R268*

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 null
Transcript: ENSMUST00000177054
AA Change: R494*

SMART Domains

Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: R494*

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

0.9754

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,192,663	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,364,031	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,766,614	Q249L	probably damaging	Het
Akap2	C	A	4: 57,856,720	A926E	probably benign	Het
Ap1g2	C	T	14: 55,099,773	V702I	probably benign	Het
Armcx5	G	A	X: 135,746,815	E547K	probably damaging	Het
Asah2	C	A	19: 32,016,728	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,533,587		probably benign	Het
Axl	C	A	7: 25,774,163	R346L	probably benign	Het
Baz1a	G	A	12: 54,941,519	R282*	probably null	Het
Card14	A	G	11: 119,322,827	N200S	probably benign	Het
Cdt1	A	G	8: 122,568,137	T28A	probably benign	Het
Cep250	C	T	2: 155,970,097	Q438*	probably null	Het
Dapk1	C	A	13: 60,718,132	P181Q	probably damaging	Het
Dnah17	C	T	11: 118,070,568		probably benign	Het
Dph7	T	C	2: 24,968,956		probably null	Het
Edc4	A	T	8: 105,889,396	D801V	possibly damaging	Het
Eif4g2	A	G	7: 111,077,223		probably null	Het
Eml2	T	C	7: 19,202,591	L531P	probably damaging	Het
Ephb2	T	C	4: 136,673,365	Y533C	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fsip2	A	G	2: 82,977,533	K1399E	probably benign	Het
Hcls1	A	G	16: 36,962,625	D446G	probably damaging	Het
Hif1a	T	A	12: 73,945,631	N787K	probably damaging	Het
Ints14	T	C	9: 64,964,433	S18P	probably benign	Het
Kalrn	A	T	16: 33,993,670		probably benign	Het
Llgl2	T	A	11: 115,850,267	D502E	probably damaging	Het
Lrwd1	A	G	5: 136,123,500	V570A	probably damaging	Het
Mga	C	G	2: 119,964,466	P2877R	probably damaging	Het
Mvd	T	C	8: 122,436,553	I313V	probably benign	Het
Myo15b	C	A	11: 115,882,913	P270T	probably damaging	Het
Naip1	C	A	13: 100,444,200	V180L	probably benign	Het
Ofd1	T	C	X: 166,435,540		probably benign	Het
Olfr1233	T	A	2: 89,339,985	I106F	probably damaging	Het
Olfr1423	A	T	19: 12,036,565	M59K	possibly damaging	Het
Olfr348	T	A	2: 36,786,693	L56H	probably damaging	Het
Otogl	G	A	10: 107,798,355	P1420S	probably benign	Het
Pcnt	C	T	10: 76,420,316	V697M	probably damaging	Het
Plekha7	A	T	7: 116,154,645	Y702*	probably null	Het
Plxnb3	A	G	X: 73,764,358		probably benign	Het
Ptgis	A	G	2: 167,206,882	F405L	probably damaging	Het
Ptprk	C	T	10: 28,075,136	P19L	probably damaging	Het
Ptprt	A	G	2: 161,812,120	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 29,145,851	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,523,626		probably null	Het
Slc6a15	T	A	10: 103,404,352	L312*	probably null	Het
Slf1	T	A	13: 77,049,114	M794L	probably benign	Het
Sntg2	G	A	12: 30,257,978	T236I	possibly damaging	Het
Stau1	T	C	2: 166,950,806	Y413C	probably damaging	Het
Syne2	T	G	12: 75,912,353		probably null	Het
Tas2r104	A	T	6: 131,685,202	N181K	probably damaging	Het
Tmem81	G	A	1: 132,507,731	V92I	probably benign	Het
Trap1	A	G	16: 4,060,751		probably benign	Het
Trip12	T	C	1: 84,757,761	E905G	probably damaging	Het
Vps13a	G	T	19: 16,652,694	R2692S	probably damaging	Het
Zfhx3	T	C	8: 108,948,539	S2074P	probably benign	Het
Zfhx3	C	G	8: 108,948,967	Y2216*	probably null	Het
Zfp423	A	G	8: 87,782,114	F409S	probably damaging	Het
Zfp472	G	A	17: 32,977,934	E328K	possibly damaging	Het
Zfp619	T	A	7: 39,537,675	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,846,246	I79V	probably benign	Het

Other mutations in Usp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Usp2	APN	9	44089165	nonsense	probably null
IGL01574:Usp2	APN	9	44093803	missense	probably damaging	1.00
IGL02103:Usp2	APN	9	44089128	intron	probably benign
IGL02391:Usp2	APN	9	44091227	missense	probably damaging	1.00
R0385:Usp2	UTSW	9	44092750	missense	probably damaging	0.99
R0555:Usp2	UTSW	9	44092784	missense	probably damaging	1.00
R1553:Usp2	UTSW	9	44092155	missense	probably damaging	0.99
R1851:Usp2	UTSW	9	44075966	missense	probably benign	0.00
R2437:Usp2	UTSW	9	44092148	missense	probably damaging	0.98
R3962:Usp2	UTSW	9	44075657	missense	possibly damaging	0.82
R4392:Usp2	UTSW	9	44091259	missense	probably damaging	1.00
R4411:Usp2	UTSW	9	44091063	missense	probably damaging	1.00
R4894:Usp2	UTSW	9	44075828	missense	probably benign	0.03
R4960:Usp2	UTSW	9	44075813	missense	probably damaging	1.00
R5482:Usp2	UTSW	9	44089183	critical splice donor site	probably null
R5496:Usp2	UTSW	9	44085208	missense	possibly damaging	0.95
R5932:Usp2	UTSW	9	44092333	missense	probably benign
R6956:Usp2	UTSW	9	44092756	missense	probably damaging	1.00
R7007:Usp2	UTSW	9	44090042	missense	probably damaging	1.00
R7224:Usp2	UTSW	9	44075969	missense	possibly damaging	0.95
R7635:Usp2	UTSW	9	44067222	critical splice donor site	probably null
RF007:Usp2	UTSW	9	44089121	critical splice acceptor site	probably benign
RF012:Usp2	UTSW	9	44089130	critical splice acceptor site	probably benign
RF015:Usp2	UTSW	9	44089109	critical splice acceptor site	probably benign
RF036:Usp2	UTSW	9	44089124	critical splice acceptor site	probably benign
RF046:Usp2	UTSW	9	44089111	critical splice acceptor site	probably benign
RF051:Usp2	UTSW	9	44089129	critical splice acceptor site	probably benign
RF053:Usp2	UTSW	9	44089129	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGATGAGAAGCCAGTAAGTCACTCC -3'
(R):5'- TGAAGCAAATTCTCTCAAGTCCAGGTC -3'

Sequencing Primer
(F):5'- TCACTCCTCAGTGACAGAACAG -3'
(R):5'- ATCCTGGATTCTGAGAATCGC -3'

Posted On

2013-07-11