Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Psmd2'

207479

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

039868-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20651652-20663414 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20656582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 370 (M370R)

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: M370R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: M370R

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: ENSMUST00000167869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169195

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974 (GRCm38)	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252 (GRCm38)	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066 (GRCm38)		probably benign	Het
Adgra3	A	C	5: 49,961,492 (GRCm38)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533 (GRCm38)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314 (GRCm38)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595 (GRCm38)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889 (GRCm38)		probably null	Het
Apob	T	C	12: 8,007,602 (GRCm38)	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583 (GRCm38)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050 (GRCm38)	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017 (GRCm38)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821 (GRCm38)	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231 (GRCm38)	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806 (GRCm38)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794 (GRCm38)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799 (GRCm38)	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818 (GRCm38)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152 (GRCm38)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528 (GRCm38)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983 (GRCm38)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082 (GRCm38)	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738 (GRCm38)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760 (GRCm38)	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258 (GRCm38)		probably null	Het
E430018J23Rik	A	C	7: 127,391,488 (GRCm38)	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679 (GRCm38)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512 (GRCm38)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820 (GRCm38)	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996 (GRCm38)	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803 (GRCm38)	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775 (GRCm38)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537 (GRCm38)	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610 (GRCm38)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765 (GRCm38)	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030 (GRCm38)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180 (GRCm38)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632 (GRCm38)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567 (GRCm38)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270 (GRCm38)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm38)	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120 (GRCm38)	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994 (GRCm38)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526 (GRCm38)		probably benign	Het
Lrif1	T	A	3: 106,732,811 (GRCm38)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173 (GRCm38)		probably null	Het
Lypd6	T	A	2: 50,188,762 (GRCm38)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122 (GRCm38)	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785 (GRCm38)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586 (GRCm38)	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093 (GRCm38)	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309 (GRCm38)		probably null	Het
Nox3	G	T	17: 3,669,878 (GRCm38)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086 (GRCm38)	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672 (GRCm38)	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931 (GRCm38)	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077 (GRCm38)	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384 (GRCm38)	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735 (GRCm38)	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143 (GRCm38)	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283 (GRCm38)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491 (GRCm38)	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957 (GRCm38)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225 (GRCm38)		probably null	Het
Pcnx	T	C	12: 81,980,935 (GRCm38)	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950 (GRCm38)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478 (GRCm38)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505 (GRCm38)	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831 (GRCm38)	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835 (GRCm38)		probably null	Het
Polr1b	A	G	2: 129,102,966 (GRCm38)	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757 (GRCm38)	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546 (GRCm38)	Q202*	probably null	Het
Rimklb	A	T	6: 122,464,009 (GRCm38)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674 (GRCm38)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752 (GRCm38)	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841 (GRCm38)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675 (GRCm38)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023 (GRCm38)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381 (GRCm38)	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719 (GRCm38)	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336 (GRCm38)	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891 (GRCm38)	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563 (GRCm38)	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780 (GRCm38)	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654 (GRCm38)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804 (GRCm38)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780 (GRCm38)	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133 (GRCm38)		probably null	Het
Trim66	T	C	7: 109,475,839 (GRCm38)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994 (GRCm38)	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790 (GRCm38)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554 (GRCm38)	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795 (GRCm38)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470 (GRCm38)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921 (GRCm38)	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982 (GRCm38)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564 (GRCm38)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm38)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725 (GRCm38)	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699 (GRCm38)	E80D	unknown	Het

Other mutations in Psmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Psmd2	APN	16	20,659,405 (GRCm38)	splice site	probably null
IGL02348:Psmd2	APN	16	20,654,647 (GRCm38)	missense	probably benign	0.07
IGL02352:Psmd2	APN	16	20,656,941 (GRCm38)	missense	probably benign	0.13
IGL02359:Psmd2	APN	16	20,656,941 (GRCm38)	missense	probably benign	0.13
R0012:Psmd2	UTSW	16	20,661,684 (GRCm38)	missense	probably damaging	0.99
R0144:Psmd2	UTSW	16	20,662,225 (GRCm38)	splice site	probably null
R0565:Psmd2	UTSW	16	20,660,426 (GRCm38)	missense	probably null	0.63
R0739:Psmd2	UTSW	16	20,655,329 (GRCm38)	missense	probably benign	0.01
R1075:Psmd2	UTSW	16	20,659,959 (GRCm38)	missense	probably damaging	0.98
R1189:Psmd2	UTSW	16	20,661,894 (GRCm38)	missense	probably benign	0.17
R1231:Psmd2	UTSW	16	20,655,585 (GRCm38)	missense	possibly damaging	0.83
R1405:Psmd2	UTSW	16	20,652,284 (GRCm38)	missense	possibly damaging	0.83
R1405:Psmd2	UTSW	16	20,652,284 (GRCm38)	missense	possibly damaging	0.83
R1466:Psmd2	UTSW	16	20,657,965 (GRCm38)	unclassified	probably benign
R1556:Psmd2	UTSW	16	20,655,585 (GRCm38)	missense	possibly damaging	0.83
R2398:Psmd2	UTSW	16	20,659,472 (GRCm38)	missense	possibly damaging	0.86
R2421:Psmd2	UTSW	16	20,660,106 (GRCm38)	splice site	probably null
R2520:Psmd2	UTSW	16	20,663,076 (GRCm38)	missense	probably damaging	1.00
R3040:Psmd2	UTSW	16	20,657,567 (GRCm38)	missense	probably benign	0.08
R3905:Psmd2	UTSW	16	20,655,642 (GRCm38)	missense	probably benign	0.07
R3906:Psmd2	UTSW	16	20,655,642 (GRCm38)	missense	probably benign	0.07
R3909:Psmd2	UTSW	16	20,655,642 (GRCm38)	missense	probably benign	0.07
R4027:Psmd2	UTSW	16	20,663,205 (GRCm38)	missense	probably damaging	0.98
R4029:Psmd2	UTSW	16	20,663,205 (GRCm38)	missense	probably damaging	0.98
R4031:Psmd2	UTSW	16	20,663,205 (GRCm38)	missense	probably damaging	0.98
R4357:Psmd2	UTSW	16	20,656,652 (GRCm38)	missense	probably benign
R4410:Psmd2	UTSW	16	20,655,026 (GRCm38)	missense	probably damaging	0.96
R4678:Psmd2	UTSW	16	20,659,969 (GRCm38)	missense	probably damaging	1.00
R4737:Psmd2	UTSW	16	20,659,815 (GRCm38)	unclassified	probably benign
R4771:Psmd2	UTSW	16	20,662,679 (GRCm38)	missense	probably damaging	0.99
R5081:Psmd2	UTSW	16	20,661,655 (GRCm38)	missense	probably benign	0.14
R5124:Psmd2	UTSW	16	20,652,698 (GRCm38)	missense	possibly damaging	0.93
R5801:Psmd2	UTSW	16	20,654,922 (GRCm38)	missense	probably damaging	0.96
R6381:Psmd2	UTSW	16	20,655,273 (GRCm38)	missense	probably benign	0.03
R6732:Psmd2	UTSW	16	20,662,636 (GRCm38)	missense	probably benign	0.02
R6870:Psmd2	UTSW	16	20,661,843 (GRCm38)	missense	probably benign	0.33
R7030:Psmd2	UTSW	16	20,662,133 (GRCm38)	missense	probably damaging	1.00
R7137:Psmd2	UTSW	16	20,652,627 (GRCm38)	missense	probably benign	0.12
R7432:Psmd2	UTSW	16	20,654,925 (GRCm38)	missense	probably damaging	0.99
R8673:Psmd2	UTSW	16	20,656,888 (GRCm38)	missense	probably damaging	1.00
R8685:Psmd2	UTSW	16	20,655,411 (GRCm38)	missense	probably benign
R9110:Psmd2	UTSW	16	20,652,244 (GRCm38)	missense	probably damaging	0.99
R9192:Psmd2	UTSW	16	20,654,662 (GRCm38)	missense	probably damaging	1.00
R9341:Psmd2	UTSW	16	20,656,691 (GRCm38)	critical splice donor site	probably null
R9343:Psmd2	UTSW	16	20,656,691 (GRCm38)	critical splice donor site	probably null
R9504:Psmd2	UTSW	16	20,659,410 (GRCm38)	missense	probably benign
R9526:Psmd2	UTSW	16	20,655,619 (GRCm38)	missense	probably benign	0.04
R9689:Psmd2	UTSW	16	20,660,423 (GRCm38)	missense	probably benign	0.05
Z1176:Psmd2	UTSW	16	20,662,660 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTAGACAACCCATTTCTAAAG -3'
(R):5'- TGGATGCCTCTCAGGTAACATCTG -3'

Sequencing Primer
(F):5'- GCCTGGTCTACAAAGCAAGTTCTAG -3'
(R):5'- CCTCTCAGGTAACATCTGACTATATG -3'

Posted On

2014-06-23