Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Psmd2'

719277

Institutional Source

Beutler Lab

Gene Symbol

Psmd2

Ensembl Gene

ENSMUSG00000006998

Gene Name

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

Synonyms

TEG-190, Tex190, 9430095H01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20470402-20482164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20474369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 308 (S308R)

Ref Sequence

ENSEMBL: ENSMUSP00000007212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007212] [ENSMUST00000172207] [ENSMUST00000232629]

AlphaFold

Q8VDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000007212
AA Change: S308R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: S308R

Domain	Start	End	E-Value	Type
Pfam:PC_rep	443	479	3.7e-9	PFAM
Pfam:PC_rep	480	514	1.3e-8	PFAM
low complexity region	571	581	N/A	INTRINSIC
SCOP:d1gw5b_	617	773	1e-8	SMART
PDB:4CR4\|Z	653	906	3e-57	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172207

Predicted Effect

probably benign
Transcript: ENSMUST00000231897

Predicted Effect

probably benign
Transcript: ENSMUST00000232513

Predicted Effect

probably benign
Transcript: ENSMUST00000232629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Psmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Psmd2	APN	16	20,478,155 (GRCm39)	splice site	probably null
IGL02348:Psmd2	APN	16	20,473,397 (GRCm39)	missense	probably benign	0.07
IGL02352:Psmd2	APN	16	20,475,691 (GRCm39)	missense	probably benign	0.13
IGL02359:Psmd2	APN	16	20,475,691 (GRCm39)	missense	probably benign	0.13
R0012:Psmd2	UTSW	16	20,480,434 (GRCm39)	missense	probably damaging	0.99
R0144:Psmd2	UTSW	16	20,480,975 (GRCm39)	splice site	probably null
R0565:Psmd2	UTSW	16	20,479,176 (GRCm39)	missense	probably null	0.63
R0739:Psmd2	UTSW	16	20,474,079 (GRCm39)	missense	probably benign	0.01
R1075:Psmd2	UTSW	16	20,478,709 (GRCm39)	missense	probably damaging	0.98
R1189:Psmd2	UTSW	16	20,480,644 (GRCm39)	missense	probably benign	0.17
R1231:Psmd2	UTSW	16	20,474,335 (GRCm39)	missense	possibly damaging	0.83
R1405:Psmd2	UTSW	16	20,471,034 (GRCm39)	missense	possibly damaging	0.83
R1405:Psmd2	UTSW	16	20,471,034 (GRCm39)	missense	possibly damaging	0.83
R1466:Psmd2	UTSW	16	20,476,715 (GRCm39)	unclassified	probably benign
R1556:Psmd2	UTSW	16	20,474,335 (GRCm39)	missense	possibly damaging	0.83
R1843:Psmd2	UTSW	16	20,475,332 (GRCm39)	missense	probably benign	0.02
R2398:Psmd2	UTSW	16	20,478,222 (GRCm39)	missense	possibly damaging	0.86
R2421:Psmd2	UTSW	16	20,478,856 (GRCm39)	splice site	probably null
R2520:Psmd2	UTSW	16	20,481,826 (GRCm39)	missense	probably damaging	1.00
R3040:Psmd2	UTSW	16	20,476,317 (GRCm39)	missense	probably benign	0.08
R3905:Psmd2	UTSW	16	20,474,392 (GRCm39)	missense	probably benign	0.07
R3906:Psmd2	UTSW	16	20,474,392 (GRCm39)	missense	probably benign	0.07
R3909:Psmd2	UTSW	16	20,474,392 (GRCm39)	missense	probably benign	0.07
R4027:Psmd2	UTSW	16	20,481,955 (GRCm39)	missense	probably damaging	0.98
R4029:Psmd2	UTSW	16	20,481,955 (GRCm39)	missense	probably damaging	0.98
R4031:Psmd2	UTSW	16	20,481,955 (GRCm39)	missense	probably damaging	0.98
R4357:Psmd2	UTSW	16	20,475,402 (GRCm39)	missense	probably benign
R4410:Psmd2	UTSW	16	20,473,776 (GRCm39)	missense	probably damaging	0.96
R4678:Psmd2	UTSW	16	20,478,719 (GRCm39)	missense	probably damaging	1.00
R4737:Psmd2	UTSW	16	20,478,565 (GRCm39)	unclassified	probably benign
R4771:Psmd2	UTSW	16	20,481,429 (GRCm39)	missense	probably damaging	0.99
R5081:Psmd2	UTSW	16	20,480,405 (GRCm39)	missense	probably benign	0.14
R5124:Psmd2	UTSW	16	20,471,448 (GRCm39)	missense	possibly damaging	0.93
R5801:Psmd2	UTSW	16	20,473,672 (GRCm39)	missense	probably damaging	0.96
R6381:Psmd2	UTSW	16	20,474,023 (GRCm39)	missense	probably benign	0.03
R6732:Psmd2	UTSW	16	20,481,386 (GRCm39)	missense	probably benign	0.02
R6870:Psmd2	UTSW	16	20,480,593 (GRCm39)	missense	probably benign	0.33
R7030:Psmd2	UTSW	16	20,480,883 (GRCm39)	missense	probably damaging	1.00
R7137:Psmd2	UTSW	16	20,471,377 (GRCm39)	missense	probably benign	0.12
R7432:Psmd2	UTSW	16	20,473,675 (GRCm39)	missense	probably damaging	0.99
R8673:Psmd2	UTSW	16	20,475,638 (GRCm39)	missense	probably damaging	1.00
R8685:Psmd2	UTSW	16	20,474,161 (GRCm39)	missense	probably benign
R9110:Psmd2	UTSW	16	20,470,994 (GRCm39)	missense	probably damaging	0.99
R9192:Psmd2	UTSW	16	20,473,412 (GRCm39)	missense	probably damaging	1.00
R9341:Psmd2	UTSW	16	20,475,441 (GRCm39)	critical splice donor site	probably null
R9343:Psmd2	UTSW	16	20,475,441 (GRCm39)	critical splice donor site	probably null
R9504:Psmd2	UTSW	16	20,478,160 (GRCm39)	missense	probably benign
R9689:Psmd2	UTSW	16	20,479,173 (GRCm39)	missense	probably benign	0.05
Z1176:Psmd2	UTSW	16	20,481,410 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTTCCTGCAAAGATGTGTATG -3'
(R):5'- AGCAACTTTAACCAGGGAGTC -3'

Sequencing Primer
(F):5'- CTTCCTGCAAAGATGTGTATGTAGAG -3'
(R):5'- GCAACTTTAACCAGGGAGTCTATTG -3'

Posted On

2022-07-18