Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Psme2'

317756

Institutional Source

Beutler Lab

Gene Symbol

Psme2

Ensembl Gene

ENSMUSG00000079197

Gene Name

proteasome (prosome, macropain) activator subunit 2 (PA28 beta)

Synonyms

PA28b

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55824897-55828558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55825734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 143 (N143K)

Ref Sequence

ENSEMBL: ENSMUSP00000125596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000022828] [ENSMUST00000111378] [ENSMUST00000137296] [ENSMUST00000159687] [ENSMUST00000161807]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019443

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	68	148	7.1e-17	PFAM
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	405	429	4.86e-1	SMART
Pfam:HOIP-UBA	477	622	2.4e-54	PFAM
Blast:RING	693	741	7e-25	BLAST
IBR	773	835	3.18e-14	SMART
IBR	847	924	5.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022828

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	191	1.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111378
AA Change: N143K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107009
Gene: ENSMUSG00000079197
AA Change: N143K

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	1	64	2.2e-26	PFAM
Pfam:PA28_beta	82	231	1.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137296

SMART Domains

Protein: ENSMUSP00000122955
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	66	151	6.8e-17	PFAM
Blast:RING	214	257	3e-17	BLAST
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	404	428	4.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140178

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
PDB:4OYJ\|M	2	85	1e-29	PDB
low complexity region	164	196	N/A	INTRINSIC
ZnF_RBZ	200	224	2.56e-1	SMART
ZnF_RBZ	248	272	6.93e-5	SMART
ZnF_RBZ	307	331	4.86e-1	SMART
Pfam:HOIP-UBA	369	468	1.1e-31	PFAM
Blast:RING	539	587	9e-25	BLAST
IBR	619	681	3.18e-14	SMART
IBR	693	770	5.35e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162700

Predicted Effect

probably benign
Transcript: ENSMUST00000159687
AA Change: N143K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125596
Gene: ENSMUSG00000079197
AA Change: N143K

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	1	64	1.2e-26	PFAM
Pfam:PA28_beta	82	165	3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161027

Predicted Effect

probably benign
Transcript: ENSMUST00000161807
AA Change: N151K

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

SMART Domains

Protein: ENSMUSP00000123798
Gene: ENSMUSG00000079197
AA Change: N151K

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159845

Predicted Effect

probably benign
Transcript: ENSMUST00000174352

SMART Domains

Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	43	6.3e-11	PFAM
Pfam:UPF0172	41	82	1.2e-11	PFAM

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene results in impaired cytotoxic T lymphocyte responses and immunoproteasome assembly. [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
Akap9	A	G	5: 4,093,996 (GRCm39)	M2173V	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Angpt1	T	C	15: 42,386,941 (GRCm39)	T138A	probably damaging	Het
Atp2c2	G	A	8: 120,476,610 (GRCm39)		probably null	Het
Cadm2	A	G	16: 66,581,675 (GRCm39)	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,459,181 (GRCm39)	D671E	probably damaging	Het
Chd2	C	T	7: 73,150,764 (GRCm39)	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,118,729 (GRCm39)	Q29*	probably null	Het
Cip2a	T	C	16: 48,821,339 (GRCm39)		probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,978,091 (GRCm39)		noncoding transcript	Het
Gsdma2	T	A	11: 98,541,677 (GRCm39)	S135T	probably benign	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hoxb3	C	A	11: 96,236,926 (GRCm39)	H335N	probably damaging	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,672,350 (GRCm39)	T90I	probably damaging	Het
Kansl3	C	A	1: 36,384,035 (GRCm39)	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,207,035 (GRCm39)	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,767,927 (GRCm39)	E12V	probably damaging	Het
Klk15	A	T	7: 43,588,204 (GRCm39)	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,277,728 (GRCm39)	M1K	probably null	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp8	T	A	4: 107,700,468 (GRCm39)	C135*	probably null	Het
Lrrc31	C	A	3: 30,749,671 (GRCm39)	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Med27	G	A	2: 29,267,920 (GRCm39)		probably benign	Het
Mical1	T	C	10: 41,362,933 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,453,191 (GRCm39)	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,752,953 (GRCm39)	M477V	probably benign	Het
Npy4r	T	C	14: 33,869,098 (GRCm39)	I63M	probably benign	Het
Or2t43	A	T	11: 58,457,655 (GRCm39)	I172N	probably damaging	Het
Or52e15	C	T	7: 104,645,842 (GRCm39)	G90S	probably benign	Het
Or8b1b	T	A	9: 38,375,379 (GRCm39)	L14Q	probably null	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Piezo1	A	C	8: 123,227,899 (GRCm39)		probably null	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Proser1	T	C	3: 53,387,133 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,571 (GRCm39)	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,968,763 (GRCm39)	T77A	possibly damaging	Het
Recql5	A	G	11: 115,795,714 (GRCm39)	S190P	probably benign	Het
Serpina12	A	G	12: 104,004,183 (GRCm39)	F150L	probably damaging	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,831,281 (GRCm39)	T357M	probably damaging	Het
Spag6l	A	C	16: 16,646,888 (GRCm39)	N39K	probably benign	Het
Srl	A	G	16: 4,315,316 (GRCm39)	S109P	possibly damaging	Het
Tagap	A	T	17: 8,148,255 (GRCm39)	H152L	probably damaging	Het
Tbx3	T	A	5: 119,818,813 (GRCm39)	S463T	probably benign	Het
Tcaf2	A	G	6: 42,619,772 (GRCm39)	L85P	probably damaging	Het
Tenm4	A	T	7: 96,544,979 (GRCm39)	S2332C	probably damaging	Het
Trim60	A	T	8: 65,454,030 (GRCm39)	M73K	probably benign	Het
Trpc1	T	C	9: 95,588,918 (GRCm39)	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,025,958 (GRCm39)	L601Q	probably benign	Het
Unc5d	T	C	8: 29,334,865 (GRCm39)	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,223,856 (GRCm39)	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,943 (GRCm39)	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,642 (GRCm39)	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,676,185 (GRCm39)	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,676,186 (GRCm39)	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,270,442 (GRCm39)	V536A	probably benign	Het
Vstm2a	A	G	11: 16,209,884 (GRCm39)	T37A	probably damaging	Het
Wfs1	T	C	5: 37,124,809 (GRCm39)	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,348,940 (GRCm39)	S2440P	possibly damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het

Other mutations in Psme2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Psme2	APN	14	55,825,893 (GRCm39)	unclassified	probably benign
IGL01462:Psme2	APN	14	55,827,128 (GRCm39)	missense	probably damaging	1.00
R1853:Psme2	UTSW	14	55,825,936 (GRCm39)	missense	probably damaging	1.00
R2103:Psme2	UTSW	14	55,828,297 (GRCm39)	critical splice donor site	probably null
R5999:Psme2	UTSW	14	55,827,539 (GRCm39)	missense	probably damaging	1.00
R6010:Psme2	UTSW	14	55,824,980 (GRCm39)	splice site	probably null
R6620:Psme2	UTSW	14	55,825,928 (GRCm39)	missense	probably damaging	1.00
R7106:Psme2	UTSW	14	55,825,694 (GRCm39)	missense	probably benign	0.02
R8679:Psme2	UTSW	14	55,827,074 (GRCm39)	critical splice donor site	probably null
R9123:Psme2	UTSW	14	55,828,302 (GRCm39)	missense	possibly damaging	0.94
R9125:Psme2	UTSW	14	55,828,302 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CGTTCTGAGAAGTACCTGTGAG -3'
(R):5'- TCACATGGATCCAGCACCTG -3'

Sequencing Primer
(F):5'- TCTGAGAAGTACCTGTGAGAAGGAAG -3'
(R):5'- CCTGATCCCCAAGATTGAGGATG -3'

Posted On

2015-05-15