Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01324:Psmc2'

74190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmc2

Ensembl Gene

ENSMUSG00000028932

Gene Name

proteasome (prosome, macropain) 26S subunit, ATPase 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

21990281-22008785 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 22005007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030769]

AlphaFold

P46471

Predicted Effect

probably null
Transcript: ENSMUST00000030769

SMART Domains

Protein: ENSMUSP00000030769
Gene: ENSMUSG00000028932

Domain	Start	End	E-Value	Type
low complexity region	114	125	N/A	INTRINSIC
AAA	250	389	2.74e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132720

Coding Region Coverage

Validation Efficiency

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. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,980,396 (GRCm39)	G560D	probably damaging	Het
Ap1g1	T	A	8: 110,559,414 (GRCm39)	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,555,120 (GRCm39)	T482S	probably damaging	Het
BC004004	T	C	17: 29,501,225 (GRCm39)	L58P	probably damaging	Het
Camsap1	C	A	2: 25,823,635 (GRCm39)	V1472L	possibly damaging	Het
Ces3b	A	T	8: 105,819,884 (GRCm39)	E569V	probably damaging	Het
Commd6	G	A	14: 101,877,738 (GRCm39)		probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Dync1h1	C	T	12: 110,593,299 (GRCm39)	R1189C	probably damaging	Het
Ern2	T	A	7: 121,782,413 (GRCm39)	I68F	possibly damaging	Het
Eya4	A	G	10: 22,992,449 (GRCm39)		probably null	Het
Gda	A	T	19: 21,387,250 (GRCm39)	I325K	probably damaging	Het
Gmnn	T	C	13: 24,936,105 (GRCm39)	T190A	probably benign	Het
Hdac4	G	A	1: 91,887,137 (GRCm39)	P801S	probably damaging	Het
Hnrnph3	A	T	10: 62,853,903 (GRCm39)	*72K	probably null	Het
Hoxd12	A	T	2: 74,505,480 (GRCm39)	N17I	probably damaging	Het
Incenp	G	A	19: 9,861,092 (GRCm39)	R497C	unknown	Het
Iqsec1	C	A	6: 90,666,685 (GRCm39)	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,595,603 (GRCm39)	M1T	probably null	Het
Kcnu1	T	A	8: 26,339,735 (GRCm39)	S18T	probably benign	Het
Lepr	T	A	4: 101,625,265 (GRCm39)	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,636,167 (GRCm39)	T564A	probably damaging	Het
Nsd3	C	T	8: 26,152,836 (GRCm39)	T392I	probably damaging	Het
Or10a5	T	C	7: 106,636,054 (GRCm39)	S231P	probably damaging	Het
Or10w1	T	C	19: 13,632,297 (GRCm39)	I163T	probably damaging	Het
P4ha2	A	G	11: 54,010,984 (GRCm39)	D333G	probably damaging	Het
Parg	T	C	14: 32,018,142 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,338,063 (GRCm39)	Y3354C	probably damaging	Het
Siglec1	T	G	2: 130,927,461 (GRCm39)	D115A	probably damaging	Het
Slit3	G	T	11: 35,501,529 (GRCm39)	G421V	probably damaging	Het
Srgap3	T	A	6: 112,716,358 (GRCm39)	H590L	probably damaging	Het
Stk36	A	C	1: 74,664,769 (GRCm39)	T628P	possibly damaging	Het
Stx12	A	T	4: 132,590,576 (GRCm39)	M107K	probably benign	Het
Syne2	G	T	12: 76,090,526 (GRCm39)	V5105F	probably damaging	Het
Tecta	T	C	9: 42,256,727 (GRCm39)	S1650G	probably damaging	Het
Tlr1	T	C	5: 65,082,522 (GRCm39)	N685S	probably damaging	Het
Trio	A	G	15: 27,905,409 (GRCm39)	V60A	probably benign	Het
Ttyh3	G	A	5: 140,617,268 (GRCm39)	R334W	probably benign	Het
Ube2u	A	G	4: 100,336,422 (GRCm39)	E15G	possibly damaging	Het
Ush2a	G	T	1: 188,581,189 (GRCm39)	V3690L	probably benign	Het
Xab2	A	G	8: 3,671,232 (GRCm39)	V16A	possibly damaging	Het

Other mutations in Psmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Psmc2	APN	5	22,006,196 (GRCm39)	splice site	probably benign
IGL01354:Psmc2	APN	5	22,000,834 (GRCm39)	missense	possibly damaging	0.51
IGL02604:Psmc2	APN	5	22,000,098 (GRCm39)	splice site	probably null
R1656:Psmc2	UTSW	5	22,004,549 (GRCm39)	missense	possibly damaging	0.77
R2154:Psmc2	UTSW	5	22,008,127 (GRCm39)	missense	possibly damaging	0.94
R4684:Psmc2	UTSW	5	22,008,263 (GRCm39)	missense	possibly damaging	0.94
R5012:Psmc2	UTSW	5	22,007,563 (GRCm39)	missense	probably benign	0.09
R6736:Psmc2	UTSW	5	22,005,574 (GRCm39)	missense	probably damaging	0.99
R6989:Psmc2	UTSW	5	22,006,217 (GRCm39)	missense	possibly damaging	0.91
R7681:Psmc2	UTSW	5	22,008,272 (GRCm39)	critical splice donor site	probably null
R8120:Psmc2	UTSW	5	22,005,566 (GRCm39)	missense	probably damaging	1.00
R8752:Psmc2	UTSW	5	22,001,533 (GRCm39)	missense	probably benign	0.00
R8823:Psmc2	UTSW	5	22,005,574 (GRCm39)	missense	probably damaging	0.99
R9798:Psmc2	UTSW	5	22,000,806 (GRCm39)	missense	probably benign	0.01
Z1176:Psmc2	UTSW	5	22,006,315 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07