Mutagenetix > Incidental Mutation

Incidental Mutation 'R7432:Psmd2'

576590

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

045510-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7432 (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 20473675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 196 (M196K)

Ref Sequence

ENSEMBL: ENSMUSP00000007212 (fasta)

Gene Model

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

AlphaFold

Q8VDM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000007212
AA Change: M196K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: M196K

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

possibly damaging
Transcript: ENSMUST00000232629
AA Change: M122K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,468,839 (GRCm39)	I31V	probably benign	Het
Adamts17	A	G	7: 66,701,665 (GRCm39)	K40E		Het
Akr1c14	G	A	13: 4,138,952 (GRCm39)	D312N	probably benign	Het
Alg6	T	C	4: 99,641,295 (GRCm39)	V398A	probably benign	Het
Ankmy1	A	T	1: 92,823,801 (GRCm39)	M155K	probably benign	Het
Arid5b	C	A	10: 67,954,096 (GRCm39)	R396L	probably damaging	Het
Armt1	C	A	10: 4,382,706 (GRCm39)	D12E	probably benign	Het
Arrb2	T	A	11: 70,328,796 (GRCm39)	N217K	probably benign	Het
Atg2b	A	T	12: 105,627,463 (GRCm39)	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,630,957 (GRCm39)	S323T	probably benign	Het
Atp1a3	G	A	7: 24,705,300 (GRCm39)		probably benign	Het
Atp6v0e	T	C	17: 26,901,672 (GRCm39)	V42A	probably benign	Het
Atp9b	A	G	18: 80,809,056 (GRCm39)	V621A		Het
Atrnl1	A	C	19: 57,743,956 (GRCm39)	D1186A	probably damaging	Het
Atxn2l	A	T	7: 126,093,046 (GRCm39)	M821K	possibly damaging	Het
Blnk	G	A	19: 40,948,301 (GRCm39)	R123*	probably null	Het
Bud13	T	A	9: 46,198,372 (GRCm39)	S98T	probably benign	Het
Ccdc183	T	C	2: 25,499,469 (GRCm39)	M455V	probably benign	Het
Cd109	A	G	9: 78,622,225 (GRCm39)	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,553,236 (GRCm39)	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,506,419 (GRCm39)	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419 (GRCm39)	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,456,710 (GRCm39)	H583L	probably benign	Het
Cyp4f18	A	G	8: 72,749,906 (GRCm39)	Y248H	probably benign	Het
Dsg4	G	T	18: 20,579,323 (GRCm39)	G20*	probably null	Het
Dusp12	T	A	1: 170,707,345 (GRCm39)	K248*	probably null	Het
Eeig2	C	T	3: 108,910,723 (GRCm39)	A51T	probably damaging	Het
Elp1	C	T	4: 56,776,925 (GRCm39)	G624D	probably damaging	Het
Fhod3	A	G	18: 25,134,966 (GRCm39)	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,229,510 (GRCm39)	F365L	probably damaging	Het
Gab1	A	G	8: 81,515,298 (GRCm39)	I340T	probably benign	Het
Gabpa	C	T	16: 84,654,408 (GRCm39)	Q362*	probably null	Het
Gcnt2	A	T	13: 41,040,688 (GRCm39)		probably benign	Het
Gm12728	T	A	4: 105,651,486 (GRCm39)	L32Q	probably damaging	Het
Gpatch4	A	G	3: 87,959,003 (GRCm39)	N35D	probably damaging	Het
Grid2	G	T	6: 64,252,854 (GRCm39)	V441L	possibly damaging	Het
H2-M2	A	G	17: 37,792,361 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,829 (GRCm39)	F180L	probably benign	Het
Il17re	T	C	6: 113,439,332 (GRCm39)	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691 (GRCm38)	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,216,761 (GRCm39)	G69S	unknown	Het
Lmln	T	C	16: 32,909,738 (GRCm39)	L373P	probably damaging	Het
Lmo7	C	A	14: 102,139,551 (GRCm39)	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,383,547 (GRCm39)	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,566,709 (GRCm39)		probably null	Het
Mapkapk5	G	A	5: 121,675,234 (GRCm39)	H112Y	possibly damaging	Het
Maz	A	G	7: 126,622,220 (GRCm39)	V467A	probably benign	Het
Med13l	T	G	5: 118,890,003 (GRCm39)	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,271,213 (GRCm39)	N1033K	probably benign	Het
Nos3	T	A	5: 24,572,613 (GRCm39)	V184E	probably damaging	Het
Npr2	T	C	4: 43,647,155 (GRCm39)	V737A	probably damaging	Het
Nsd1	A	G	13: 55,361,187 (GRCm39)	T52A	probably benign	Het
Obscn	C	T	11: 58,919,733 (GRCm39)	R108Q		Het
Or4k50-ps1	A	G	2: 111,522,401 (GRCm39)	*179W	probably null	Het
Or4x11	A	T	2: 89,867,528 (GRCm39)	K88N	probably damaging	Het
Or5t5	G	T	2: 86,616,565 (GRCm39)	G164*	probably null	Het
Or5w22	T	C	2: 87,362,784 (GRCm39)	S136P	probably damaging	Het
Or6c70	T	C	10: 129,709,719 (GRCm39)	I302M	probably benign	Het
Or9a4	C	A	6: 40,549,240 (GRCm39)	R307S	probably benign	Het
Ovol2	A	G	2: 144,159,792 (GRCm39)	V116A	probably benign	Het
Pcdha5	C	A	18: 37,095,379 (GRCm39)	S629R	probably benign	Het
Pde4dip	T	A	3: 97,602,408 (GRCm39)	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,320,643 (GRCm39)	T185A	probably benign	Het
Pip5k1a	T	G	3: 94,981,431 (GRCm39)	T67P	probably benign	Het
Plat	G	T	8: 23,263,667 (GRCm39)	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,830,916 (GRCm39)	S147L	probably damaging	Het
Prim1	T	A	10: 127,851,885 (GRCm39)	D52E	probably damaging	Het
Prkab1	C	G	5: 116,162,221 (GRCm39)	D30H	possibly damaging	Het
Psma6	A	T	12: 55,445,613 (GRCm39)		probably benign	Het
Ralgapa2	G	T	2: 146,276,776 (GRCm39)	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,741,940 (GRCm39)	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs11	G	A	17: 26,426,734 (GRCm39)	V289M	probably damaging	Het
Ro60	T	C	1: 143,641,548 (GRCm39)	I304M	probably benign	Het
Scmh1	T	C	4: 120,386,353 (GRCm39)	L631P	probably damaging	Het
Sema3e	T	G	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,187,091 (GRCm39)	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,047,960 (GRCm39)	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765 (GRCm39)	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,758,694 (GRCm39)	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,254,511 (GRCm39)	M264T	probably benign	Het
Snapc1	T	A	12: 74,015,068 (GRCm39)	M134K	probably benign	Het
Snrk	T	C	9: 121,986,276 (GRCm39)	F215S	probably damaging	Het
Stab2	T	C	10: 86,721,547 (GRCm39)	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,163,016 (GRCm39)	Y260*	probably null	Het
Tdrd5	A	T	1: 156,130,002 (GRCm39)	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,755,768 (GRCm39)	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,644,366 (GRCm39)	R159S	possibly damaging	Het
Traj38	T	A	14: 54,418,034 (GRCm39)	N1K		Het
Ttn	A	G	2: 76,596,631 (GRCm39)	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,115,693 (GRCm39)	L64P	probably damaging	Het
Utp20	C	T	10: 88,634,260 (GRCm39)	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,076,148 (GRCm39)	V455L	probably benign	Het
Wdcp	T	C	12: 4,900,246 (GRCm39)	V34A	probably damaging	Het
Zfp27	C	T	7: 29,594,784 (GRCm39)	V394I	probably benign	Het
Zfp512b	T	C	2: 181,231,649 (GRCm39)	H177R	probably benign	Het
Zfp648	T	A	1: 154,080,783 (GRCm39)	M314K	possibly damaging	Het
Zfp811	T	C	17: 33,017,733 (GRCm39)	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,705,189 (GRCm39)		probably null	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
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'- ACACTGAATTCCTTGACTCCCAG -3'
(R):5'- AAGGCAATGTAGCATGTTCTAGG -3'

Sequencing Primer
(F):5'- GCAACATGCTTCCCTAATGAG -3'
(R):5'- GGAGTCACAAAGTCTCTTCCTTCAAG -3'

Posted On

2019-10-07