Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Psmc2'

353502

Institutional Source

Beutler Lab

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 #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21785283-21803787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21803265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 389 (D389G)

Ref Sequence

ENSEMBL: ENSMUSP00000030769 (fasta)

Gene Model

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

AlphaFold

P46471

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030769
AA Change: D389G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030769
Gene: ENSMUSG00000028932
AA Change: D389G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946 (GRCm38)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871 (GRCm38)	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684 (GRCm38)	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193 (GRCm38)	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007 (GRCm38)	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341 (GRCm38)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785 (GRCm38)		probably null	Het
Boc	C	T	16: 44,500,380 (GRCm38)	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781 (GRCm38)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256 (GRCm38)		probably benign	Het
Cobll1	G	T	2: 65,099,028 (GRCm38)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038 (GRCm38)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335 (GRCm38)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003 (GRCm38)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846 (GRCm38)		probably benign	Het
Disp2	A	G	2: 118,792,756 (GRCm38)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409 (GRCm38)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945 (GRCm38)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687 (GRCm38)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184 (GRCm38)	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309 (GRCm38)	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858 (GRCm38)	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476 (GRCm38)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256 (GRCm38)	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145 (GRCm38)	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648 (GRCm38)	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765 (GRCm38)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433 (GRCm38)	M1T	probably null	Het
Ik	T	C	18: 36,752,414 (GRCm38)	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370 (GRCm38)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968 (GRCm38)	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641 (GRCm38)	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778 (GRCm38)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304 (GRCm38)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244 (GRCm38)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816 (GRCm38)	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049 (GRCm38)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm38)	F123L	probably damaging	Het
Myh4	G	C	11: 67,245,811 (GRCm38)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826 (GRCm38)	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924 (GRCm38)	T408M	probably benign	Het
Oosp2	C	T	19: 11,649,653 (GRCm38)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,734,674 (GRCm38)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,034,830 (GRCm38)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm38)	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697 (GRCm38)	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101 (GRCm38)	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515 (GRCm38)	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278 (GRCm38)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594 (GRCm38)	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608 (GRCm38)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179 (GRCm38)	K35*	probably null	Het
Rnf213	A	G	11: 119,441,125 (GRCm38)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096 (GRCm38)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599 (GRCm38)	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713 (GRCm38)	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200 (GRCm38)		probably null	Het
Secisbp2l	T	C	2: 125,745,942 (GRCm38)	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690 (GRCm38)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849 (GRCm38)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936 (GRCm38)	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506 (GRCm38)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490 (GRCm38)	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076 (GRCm38)	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419 (GRCm38)	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735 (GRCm38)	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361 (GRCm38)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771 (GRCm38)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437 (GRCm38)	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847 (GRCm38)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,960,702 (GRCm38)	C79*	probably null	Het
Trmt44	C	T	5: 35,558,043 (GRCm38)	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781 (GRCm38)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177 (GRCm38)	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114 (GRCm38)	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956 (GRCm38)	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445 (GRCm38)	L605*	probably null	Het
Utrn	T	C	10: 12,745,240 (GRCm38)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm38)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334 (GRCm38)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178 (GRCm38)	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341 (GRCm38)	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821 (GRCm38)	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768 (GRCm38)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385 (GRCm38)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407 (GRCm38)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm38)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930 (GRCm38)	Y102H	probably benign	Het

Other mutations in Psmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Psmc2	APN	5	21,801,198 (GRCm38)	splice site	probably benign
IGL01324:Psmc2	APN	5	21,800,009 (GRCm38)	critical splice donor site	probably null
IGL01354:Psmc2	APN	5	21,795,836 (GRCm38)	missense	possibly damaging	0.51
IGL02604:Psmc2	APN	5	21,795,100 (GRCm38)	splice site	probably null
R1656:Psmc2	UTSW	5	21,799,551 (GRCm38)	missense	possibly damaging	0.77
R2154:Psmc2	UTSW	5	21,803,129 (GRCm38)	missense	possibly damaging	0.94
R5012:Psmc2	UTSW	5	21,802,565 (GRCm38)	missense	probably benign	0.09
R6736:Psmc2	UTSW	5	21,800,576 (GRCm38)	missense	probably damaging	0.99
R6989:Psmc2	UTSW	5	21,801,219 (GRCm38)	missense	possibly damaging	0.91
R7681:Psmc2	UTSW	5	21,803,274 (GRCm38)	critical splice donor site	probably null
R8120:Psmc2	UTSW	5	21,800,568 (GRCm38)	missense	probably damaging	1.00
R8752:Psmc2	UTSW	5	21,796,535 (GRCm38)	missense	probably benign	0.00
R8823:Psmc2	UTSW	5	21,800,576 (GRCm38)	missense	probably damaging	0.99
R9798:Psmc2	UTSW	5	21,795,808 (GRCm38)	missense	probably benign	0.01
Z1176:Psmc2	UTSW	5	21,801,317 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGACATGAGCTGCTTCTC -3'
(R):5'- AACAGCTCAAATCGAATGTCTC -3'

Sequencing Primer
(F):5'- CTCAGGGGCTCGGTTTGAC -3'
(R):5'- CTTTCCACACTCATTGAGCGAG -3'

Posted On

2015-10-21