Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02391:Usp2'

293857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp2

Ensembl Gene

ENSMUSG00000032010

Gene Name

ubiquitin specific peptidase 2

Synonyms

ubp41, B930035K21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

44067021-44095627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44091227 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 147 (Q147H)

Ref Sequence

ENSEMBL: ENSMUSP00000135482 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034508
AA Change: Q373H

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: Q373H

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: Q150H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: Q150H

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

possibly damaging
Transcript: ENSMUST00000114830
AA Change: Q373H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: Q373H

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: Q147H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: Q147H

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

possibly damaging
Transcript: ENSMUST00000177054
AA Change: Q373H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: Q373H

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	probably damaging	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
R0385:Usp2	UTSW	9	44092750	missense	probably damaging	0.99
R0555:Usp2	UTSW	9	44092784	missense	probably damaging	1.00
R0614:Usp2	UTSW	9	44092492	nonsense	probably null
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
R7707:Usp2	UTSW	9	44073460	intron	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

Posted On

2015-04-16