Mutagenetix > Incidental Mutation

Incidental Mutation 'R9667:Usp2'

727859

Institutional Source

Beutler Lab

Gene Symbol

Usp2

Ensembl Gene

ENSMUSG00000032010

Gene Name

ubiquitin specific peptidase 2

Synonyms

ubp41, B930035K21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9667 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43978318-44006924 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 44003487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034508 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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: 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 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: 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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,890,645 (GRCm39)	Q355*	probably null	Het
Aacs	A	T	5: 125,580,691 (GRCm39)	N255I	possibly damaging	Het
Abcf2	A	G	5: 24,779,185 (GRCm39)	L121P	probably damaging	Het
Amigo1	A	G	3: 108,095,034 (GRCm39)	I178V	probably benign	Het
Ankrd13a	T	A	5: 114,933,793 (GRCm39)	N262K	probably damaging	Het
Apba2	A	G	7: 64,345,062 (GRCm39)	E84G	possibly damaging	Het
Arhgap35	A	T	7: 16,296,914 (GRCm39)	L717*	probably null	Het
Aspa	A	T	11: 73,199,625 (GRCm39)	C217*	probably null	Het
Atp5mc3	A	G	2: 73,739,567 (GRCm39)	I91T	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Cc2d2b	A	G	19: 40,753,927 (GRCm39)	Y150C	unknown	Het
Ccdc180	C	T	4: 45,920,861 (GRCm39)	Q936*	probably null	Het
Cdc42bpg	A	G	19: 6,370,115 (GRCm39)	E1103G	probably benign	Het
Cdca2	T	C	14: 67,915,003 (GRCm39)	Q752R	probably benign	Het
Ces1b	A	T	8: 93,791,637 (GRCm39)	S321T	probably benign	Het
Cfap70	A	T	14: 20,490,690 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,490,984 (GRCm39)	T65I	possibly damaging	Het
Crocc	C	T	4: 140,748,988 (GRCm39)	E1606K	probably damaging	Het
Cryzl2	T	G	1: 157,316,038 (GRCm39)	M337R	probably benign	Het
Cyp4a29	C	A	4: 115,111,630 (GRCm39)	A469D	probably damaging	Het
Dnaaf1	T	A	8: 120,306,043 (GRCm39)	Y107N	possibly damaging	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Elovl5	A	G	9: 77,889,947 (GRCm39)	T253A	possibly damaging	Het
Fancd2	T	A	6: 113,530,717 (GRCm39)	L450*	probably null	Het
Fbxo31	C	T	8: 122,305,208 (GRCm39)	R96H	probably damaging	Het
Gls	A	T	1: 52,230,036 (GRCm39)		probably null	Het
Gm3045	G	A	13: 56,577,253 (GRCm39)	E134K	possibly damaging	Het
Gpr158	A	G	2: 21,830,054 (GRCm39)	I700V	probably damaging	Het
H2-Aa	T	C	17: 34,502,295 (GRCm39)	I209V	probably benign	Het
Ifnar2	A	G	16: 91,184,984 (GRCm39)	D125G	probably benign	Het
Igsf8	C	A	1: 172,145,319 (GRCm39)	D278E	possibly damaging	Het
Inpp5d	T	C	1: 87,623,128 (GRCm39)	I407T	probably damaging	Het
Iqcd	A	G	5: 120,744,737 (GRCm39)	E355G	probably damaging	Het
Klra2	T	A	6: 131,219,836 (GRCm39)	D115V	probably benign	Het
Kmt2b	T	C	7: 30,287,784 (GRCm39)	E120G	unknown	Het
Lhx6	A	G	2: 35,980,979 (GRCm39)	I321T	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lztr1	T	C	16: 17,327,000 (GRCm39)	Y37H	probably damaging	Het
Malrd1	A	T	2: 15,570,026 (GRCm39)		probably null	Het
Mtmr3	C	T	11: 4,470,890 (GRCm39)	V79I	probably damaging	Het
Nbr1	A	G	11: 101,451,261 (GRCm39)	I56M	possibly damaging	Het
Ncor2	C	T	5: 125,125,545 (GRCm39)	A580T	unknown	Het
Ndst3	A	G	3: 123,353,866 (GRCm39)	I601T	possibly damaging	Het
Nectin4	C	A	1: 171,210,165 (GRCm39)	P219Q	probably damaging	Het
Nfatc4	T	C	14: 56,066,964 (GRCm39)	V501A	probably benign	Het
Nisch	T	C	14: 30,895,646 (GRCm39)	T1015A	probably damaging	Het
Nr2c1	T	C	10: 94,017,479 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,165,430 (GRCm39)	E394G	probably benign	Het
Oas1e	A	G	5: 120,932,347 (GRCm39)	F99L	probably benign	Het
Oaz3	A	T	3: 94,341,835 (GRCm39)	Y178*	probably null	Het
Or1e35	A	G	11: 73,798,097 (GRCm39)	S74P	possibly damaging	Het
Or6c69b	A	C	10: 129,627,022 (GRCm39)	S145R	probably damaging	Het
Pcdhb20	C	T	18: 37,637,839 (GRCm39)	H122Y	probably benign	Het
Pdcd2	T	A	17: 15,747,535 (GRCm39)	M1L	probably damaging	Het
Phf11	T	C	14: 59,482,240 (GRCm39)	N171S	probably benign	Het
Plcd1	C	A	9: 118,901,698 (GRCm39)	G609W	probably damaging	Het
Plscr3	T	C	11: 69,738,631 (GRCm39)	F98L	probably benign	Het
Ppp1r8	T	C	4: 132,570,407 (GRCm39)	N6S	probably benign	Het
Prpf38b	G	A	3: 108,818,859 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,702,202 (GRCm39)	N299K	possibly damaging	Het
Serpina1d	T	G	12: 103,734,299 (GRCm39)	T2P	probably benign	Het
Slc22a16	A	G	10: 40,461,125 (GRCm39)	D330G	probably benign	Het
Slit1	G	A	19: 41,731,832 (GRCm39)	Q6*	probably null	Het
Spaca7b	T	A	8: 11,705,681 (GRCm39)	E142V	probably benign	Het
Spag9	T	C	11: 93,887,119 (GRCm39)	V8A	possibly damaging	Het
Spsb3	C	T	17: 25,105,784 (GRCm39)	T44I	unknown	Het
Srrt	T	C	5: 137,295,732 (GRCm39)	Y563C	probably damaging	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Tcf12	A	G	9: 71,792,443 (GRCm39)	V80A	probably benign	Het
Tdpoz3	G	A	3: 93,733,336 (GRCm39)	D4N	possibly damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem132d	G	A	5: 128,061,375 (GRCm39)	T409I	possibly damaging	Het
Tmem245	G	T	4: 56,947,119 (GRCm39)	T98K	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim25	A	T	11: 88,907,188 (GRCm39)	I516F	probably damaging	Het
Trim3	G	A	7: 105,267,455 (GRCm39)	S308L	possibly damaging	Het
Ttll9	C	T	2: 152,831,989 (GRCm39)	R189*	probably null	Het
Ttpal	T	C	2: 163,449,596 (GRCm39)		probably null	Het
Ubl4b	A	T	3: 107,461,911 (GRCm39)	H116Q	probably benign	Het
Unc80	C	A	1: 66,651,287 (GRCm39)	T1544K	possibly damaging	Het
Usp25	T	C	16: 76,874,123 (GRCm39)		probably null	Het
Vmn1r167	C	T	7: 23,204,990 (GRCm39)	V9I	probably benign	Het
Vmn2r87	A	G	10: 130,314,776 (GRCm39)	I270T	probably damaging	Het
Vps35l	G	A	7: 118,348,915 (GRCm39)		probably null	Het
Wdr24	A	G	17: 26,046,301 (GRCm39)	D515G	possibly damaging	Het
Wdr81	T	C	11: 75,341,650 (GRCm39)	T87A		Het
Zcchc14	A	T	8: 122,331,863 (GRCm39)	L500Q	unknown	Het
Zzef1	A	G	11: 72,758,786 (GRCm39)	T1242A	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
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'- CTCAAAACTAAGGCAAGCGTGG -3'
(R):5'- GAGCTTAAGGCCTGAGGTAG -3'

Sequencing Primer
(F):5'- TAAGGCAAGCGTGGGTGGG -3'
(R):5'- ACTGAGGAGTGACTTACTGGC -3'

Posted On

2022-10-06