Mutagenetix > Incidental Mutation

Incidental Mutation 'R9123:Psme2'

693044

Institutional Source

Beutler Lab

Gene Symbol

Psme2

Ensembl Gene

ENSMUSG00000079197

Gene Name

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

Synonyms

PA28b

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55824897-55828558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55828302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 15 (K15N)

Ref Sequence

ENSEMBL: ENSMUSP00000123798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000111378] [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: ENSMUST00000111378

SMART Domains

Protein: ENSMUSP00000107009
Gene: ENSMUSG00000079197

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

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

probably benign
Transcript: ENSMUST00000159687

SMART Domains

Protein: ENSMUSP00000125596
Gene: ENSMUSG00000079197

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

possibly damaging
Transcript: ENSMUST00000161807
AA Change: K15N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123798
Gene: ENSMUSG00000079197
AA Change: K15N

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

Meta Mutation Damage Score

0.1162

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Apoe	T	A	7: 19,432,375 (GRCm39)		probably benign	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Atp2a2	A	T	5: 122,604,918 (GRCm39)	C420*	probably null	Het
Cd84	A	T	1: 171,712,153 (GRCm39)		probably null	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cpsf2	A	G	12: 101,963,555 (GRCm39)	D428G	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Ehd2	G	A	7: 15,684,626 (GRCm39)	A391V	probably damaging	Het
Evpl	A	T	11: 116,115,008 (GRCm39)	I894N	possibly damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gli1	A	G	10: 127,167,202 (GRCm39)	S684P	possibly damaging	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Hoxc10	C	T	15: 102,875,810 (GRCm39)	P173L	probably benign	Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kif2c	A	T	4: 117,024,291 (GRCm39)	S359T	probably benign	Het
Lmln	T	G	16: 32,930,202 (GRCm39)	L553R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mettl1	T	A	10: 126,880,911 (GRCm39)	V191D	possibly damaging	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Myl1	A	T	1: 66,973,675 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,078,141 (GRCm39)	T427A	probably damaging	Het
Noa1	T	C	5: 77,457,038 (GRCm39)	Y289C	possibly damaging	Het
Or5d14	C	T	2: 87,880,294 (GRCm39)	V225M	probably damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Ppp1r7	A	G	1: 93,285,497 (GRCm39)	I246V	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Retreg1	C	T	15: 25,968,618 (GRCm39)	R125C	probably damaging	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,771,229 (GRCm39)	T2604I	probably damaging	Het
Sag	T	C	1: 87,751,043 (GRCm39)	S170P	probably damaging	Het
Sema3b	T	A	9: 107,478,173 (GRCm39)	N404I	possibly damaging	Het
Serpina1b	A	T	12: 103,696,566 (GRCm39)	L281Q	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Slco6d1	A	T	1: 98,423,919 (GRCm39)	N524Y	probably damaging	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Syne2	A	T	12: 76,040,838 (GRCm39)	H3832L	probably damaging	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Trp63	C	T	16: 25,639,247 (GRCm39)	A145V	probably damaging	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Ttc39b	T	C	4: 83,189,444 (GRCm39)	D30G	probably damaging	Het
Usf3	A	G	16: 44,041,030 (GRCm39)	T1837A	probably benign	Het
Usp25	T	A	16: 76,911,969 (GRCm39)		probably null	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vrk3	C	T	7: 44,407,254 (GRCm39)	S75F	possibly damaging	Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wdr47	T	C	3: 108,526,106 (GRCm39)	F210L	probably damaging	Het
Zfp853	G	A	5: 143,274,496 (GRCm39)	Q390*	probably null	Het
Zfyve9	A	T	4: 108,575,760 (GRCm39)	D440E	probably benign	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
R4093:Psme2	UTSW	14	55,825,734 (GRCm39)	missense	probably benign	0.01
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
R9125:Psme2	UTSW	14	55,828,302 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGTCCCACAAAGCTAGTTTCC -3'
(R):5'- TACTACTCACGGTTGGTGGC -3'

Sequencing Primer
(F):5'- AAAGCTAGTTTCCCCCTGGAG -3'
(R):5'- CCGGCCAGGAGGAGGAG -3'

Posted On

2022-01-20