Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Usp2'

541464

Institutional Source

Beutler Lab

Gene Symbol

Usp2

Ensembl Gene

ENSMUSG00000032010

Gene Name

ubiquitin specific peptidase 2

Synonyms

ubp41, B930035K21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44067021-44095627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44092756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 533 (V533E)

Ref Sequence

ENSEMBL: ENSMUSP00000135018 (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 damaging
Transcript: ENSMUST00000034508
AA Change: V533E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: V533E

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: V310E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: V310E

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 damaging
Transcript: ENSMUST00000114830
AA Change: V533E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: V533E

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 damaging
Transcript: ENSMUST00000176416
AA Change: V307E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: V307E

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 damaging
Transcript: ENSMUST00000177054
AA Change: V533E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: V533E

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

Meta Mutation Damage Score

0.8662

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	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
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
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
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	splice site	probably null
R8493:Usp2	UTSW	9	44076053	missense	possibly damaging	0.85
R8744:Usp2	UTSW	9	44087213	intron	probably benign
R8888:Usp2	UTSW	9	44075597	missense	probably benign	0.18
R9035:Usp2	UTSW	9	44075879	missense	probably damaging	1.00
R9650:Usp2	UTSW	9	44089179	missense	probably damaging	1.00
R9667:Usp2	UTSW	9	44092190	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'- TATCCTTGACTCCCAGGGTG -3'
(R):5'- GGTCAAAGGGGCATCTTGAC -3'

Sequencing Primer
(F):5'- CAGGGTGGGGAGCTGATTTTTG -3'
(R):5'- AGGGGCATCTTGACAGTCAATTCTC -3'

Posted On

2018-11-28