Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Usp2'

377498

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) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43978318-44006924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43987125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 141 (S141L)

Ref Sequence

ENSEMBL: ENSMUSP00000135859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034508] [ENSMUST00000114830] [ENSMUST00000162126] [ENSMUST00000176671] [ENSMUST00000177054] [ENSMUST00000185479]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034508
AA Change: S141L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: S141L

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: ENSMUST00000114830
AA Change: S141L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: S141L

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: ENSMUST00000176671
AA Change: S141L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135859
Gene: ENSMUSG00000032010
AA Change: S141L

Domain	Start	End	E-Value	Type
low complexity region	103	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177054
AA Change: S141L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: S141L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216448

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (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
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'- ATCATTGGGAGTAGTAAGCGGTC -3'
(R):5'- CACTGCCCTTTCGACCATAG -3'

Sequencing Primer
(F):5'- TCAGAGAGCCAGACCCGTG -3'
(R):5'- CTGTTAGGTACTCAGAACGGC -3'

Posted On

2016-03-17