Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:Usp2'

208096

Institutional Source

Beutler Lab

Gene Symbol

Usp2

Ensembl Gene

ENSMUSG00000032010

Gene Name

ubiquitin specific peptidase 2

Synonyms

ubp41, B930035K21Rik

MMRRC Submission

039875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43978318-44006924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43987263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 187 (R187H)

Ref Sequence

ENSEMBL: ENSMUSP00000034508 (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: R187H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: R187H

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: R187H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: R187H

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

SMART Domains

Protein: ENSMUSP00000135859
Gene: ENSMUSG00000032010

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177054
AA Change: R187H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: R187H

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,583,687 (GRCm39)	E225G	possibly damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Abi1	A	T	2: 22,840,276 (GRCm39)	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acox3	A	T	5: 35,766,406 (GRCm39)	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,455,442 (GRCm39)	D753G	probably benign	Het
Ago1	C	A	4: 126,333,788 (GRCm39)	R771L	probably benign	Het
Aktip	A	G	8: 91,852,505 (GRCm39)	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,327,150 (GRCm39)	H676Q	probably benign	Het
Arl1	G	C	10: 88,569,408 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,650,796 (GRCm39)	D928E	probably damaging	Het
AW209491	T	C	13: 14,811,318 (GRCm39)	V57A	possibly damaging	Het
B3galt4	G	T	17: 34,169,885 (GRCm39)	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,166,080 (GRCm39)	M783K	probably benign	Het
Cdon	T	G	9: 35,394,454 (GRCm39)	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,448,835 (GRCm39)	W67*	probably null	Het
Chd5	A	G	4: 152,462,727 (GRCm39)	S1356G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cpz	C	A	5: 35,659,902 (GRCm39)	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cym	T	A	3: 107,126,030 (GRCm39)	I78F	probably benign	Het
Defb8	A	T	8: 19,495,899 (GRCm39)	S54T	probably benign	Het
Dennd4a	A	G	9: 64,769,312 (GRCm39)	T433A	probably damaging	Het
Dhx29	A	G	13: 113,084,815 (GRCm39)	T678A	probably damaging	Het
Dspp	T	C	5: 104,321,951 (GRCm39)		probably null	Het
Enkur	G	T	2: 21,193,988 (GRCm39)	A195E	probably benign	Het
Ero1b	T	A	13: 12,619,292 (GRCm39)	S429T	possibly damaging	Het
Fh1	A	G	1: 175,435,452 (GRCm39)	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,478 (GRCm39)	G553V	probably damaging	Het
Fmo1	A	T	1: 162,657,554 (GRCm39)	L529*	probably null	Het
Frem1	C	A	4: 82,868,737 (GRCm39)	V1415F	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gdpgp1	A	T	7: 79,888,349 (GRCm39)	N127Y	probably damaging	Het
Gpat2	A	G	2: 127,276,739 (GRCm39)	T648A	possibly damaging	Het
Grk6	C	T	13: 55,599,591 (GRCm39)	R225*	probably null	Het
Hells	A	T	19: 38,948,120 (GRCm39)	Q682L	probably null	Het
Hspa5	T	A	2: 34,664,690 (GRCm39)	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,312,075 (GRCm39)	N893S	probably benign	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lats2	A	G	14: 57,934,912 (GRCm39)	L606P	probably damaging	Het
Map4k1	T	C	7: 28,699,209 (GRCm39)	Y521H	probably benign	Het
Marchf11	T	A	15: 26,387,916 (GRCm39)	V257E	probably damaging	Het
Med23	G	A	10: 24,786,768 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,715,395 (GRCm39)	D696G	probably benign	Het
Ms4a7	T	A	19: 11,301,788 (GRCm39)	M212L	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myh1	T	C	11: 67,095,224 (GRCm39)	Y195H	probably damaging	Het
Napb	G	T	2: 148,548,909 (GRCm39)	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585 (GRCm38)	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,073,442 (GRCm39)	I134L	possibly damaging	Het
Nup210	A	G	6: 90,993,036 (GRCm39)	L1017P	probably damaging	Het
Nup85	T	A	11: 115,472,643 (GRCm39)	I233N	probably damaging	Het
Obsl1	A	G	1: 75,469,537 (GRCm39)	V965A	probably damaging	Het
Or4c12	A	C	2: 89,774,158 (GRCm39)	Y100*	probably null	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Or6c5c	T	C	10: 129,299,370 (GRCm39)	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,160,357 (GRCm39)	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,475,631 (GRCm39)	T256S	possibly damaging	Het
Phrf1	T	C	7: 140,820,831 (GRCm39)	F153L	probably damaging	Het
Pigw	A	T	11: 84,768,874 (GRCm39)	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,036,744 (GRCm39)	S222P	probably damaging	Het
Pjvk	A	G	2: 76,487,775 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,940,875 (GRCm39)	V1355M	probably damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Scn7a	T	C	2: 66,510,635 (GRCm39)	I1256V	probably benign	Het
Sema4d	A	G	13: 51,865,258 (GRCm39)	V362A	possibly damaging	Het
Septin4	T	A	11: 87,459,741 (GRCm39)	D496E	probably damaging	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Tacc3	G	T	5: 33,825,544 (GRCm39)	V425L	probably benign	Het
Tfdp2	A	T	9: 96,179,762 (GRCm39)	K125I	probably damaging	Het
Tjp2	C	T	19: 24,076,899 (GRCm39)	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,975,077 (GRCm39)	S30*	probably null	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Tmprss9	G	A	10: 80,728,119 (GRCm39)	V570M	probably damaging	Het
Tnk2	C	A	16: 32,498,280 (GRCm39)	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,778,401 (GRCm39)	V610G	probably damaging	Het
Trim37	T	C	11: 87,109,132 (GRCm39)	F953S	probably damaging	Het
U2surp	T	A	9: 95,364,150 (GRCm39)	K589*	probably null	Het
Vmn2r1	C	T	3: 64,008,926 (GRCm39)	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,273,925 (GRCm39)	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,396,488 (GRCm39)	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,726,613 (GRCm39)	L27*	probably null	Het
Zfp2	T	C	11: 50,791,915 (GRCm39)	K43E	probably benign	Het
Zfp268	T	G	4: 145,350,820 (GRCm39)		probably benign	Het
Zfp654	A	G	16: 64,605,491 (GRCm39)	Y904H	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
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
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'- GAGTTTCCAGCAACTCCCTC -3'
(R):5'- AGTGTGTAACGGCCACTTGG -3'

Sequencing Primer
(F):5'- TGCCCATGAATGCCAGAG -3'
(R):5'- GGCCACTTGGTCGGTAGG -3'

Posted On

2014-06-23