Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Psmd2'

249325

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

040383-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20470402-20482164 bp(+) (GRCm39)

Type of Mutation

splice site (108 bp from exon)

DNA Base Change (assembly)

T to A at 20478856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000007212

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998

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

noncoding transcript
Transcript: ENSMUST00000166071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169184

Predicted Effect

probably benign
Transcript: ENSMUST00000172207

Predicted Effect

probably null
Transcript: ENSMUST00000231897

Predicted Effect

probably benign
Transcript: ENSMUST00000232513

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,168,643 (GRCm39)	T449A	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dnal1	C	T	12: 84,183,480 (GRCm39)	Q80*	probably null	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gart	A	G	16: 91,439,928 (GRCm39)		probably null	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vangl2	T	C	1: 171,835,526 (GRCm39)	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	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
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
R9526:Psmd2	UTSW	16	20,474,369 (GRCm39)	missense	probably benign	0.04
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'- CTCTTCGGAGTTTTAAGGCTTC -3'
(R):5'- AGAAGAGCTATCCTGCAGGG -3'

Sequencing Primer
(F):5'- AAGGCTTCTTGTATTTACAGAGTAAG -3'
(R):5'- TGCAGGGAACTCCTTGTCC -3'

Posted On

2014-11-12