Mutagenetix > Incidental Mutation

Incidental Mutation 'R7030:Psmd2'

546280

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

045131-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20470402-20482164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20480883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 780 (P780L)

Ref Sequence

ENSEMBL: ENSMUSP00000007212 (fasta)

Gene Model

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

AlphaFold

Q8VDM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000007212
AA Change: P780L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: P780L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	T	4: 144,430,173 (GRCm39)	A272D	possibly damaging	Het
Abr	A	T	11: 76,350,038 (GRCm39)	I347N	probably damaging	Het
Acbd4	T	A	11: 102,994,985 (GRCm39)	L50Q	probably damaging	Het
Acsl5	T	G	19: 55,261,251 (GRCm39)	Y69*	probably null	Het
Agtpbp1	G	A	13: 59,652,108 (GRCm39)	T401I	probably damaging	Het
Ap3m2	C	T	8: 23,289,807 (GRCm39)	E99K	probably damaging	Het
Arhgef28	A	T	13: 98,124,769 (GRCm39)	S504R	possibly damaging	Het
Arsj	T	A	3: 126,232,752 (GRCm39)	D499E	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	T	C	11: 5,939,575 (GRCm39)	D232G	probably damaging	Het
Casc3	C	T	11: 98,713,359 (GRCm39)	P258S	possibly damaging	Het
Catspere2	T	A	1: 177,845,280 (GRCm39)	I100N	probably damaging	Het
Ccdc80	T	A	16: 44,943,252 (GRCm39)	N787K	possibly damaging	Het
Celsr1	C	A	15: 85,789,679 (GRCm39)	C2653F	probably damaging	Het
Cep170	T	C	1: 176,584,051 (GRCm39)	E11G	probably damaging	Het
Chia1	A	C	3: 106,022,641 (GRCm39)	N12H	probably damaging	Het
Chrna4	T	C	2: 180,671,334 (GRCm39)	T141A	probably damaging	Het
Col25a1	T	C	3: 130,272,671 (GRCm39)		probably null	Het
Dcstamp	A	T	15: 39,622,929 (GRCm39)	I417F	probably damaging	Het
Dnah5	A	G	15: 28,238,738 (GRCm39)	I427V	probably benign	Het
Dnah5	A	G	15: 28,333,208 (GRCm39)	E2203G	probably benign	Het
Dnmt3c	A	T	2: 153,559,345 (GRCm39)	S409C	probably damaging	Het
Dock6	A	T	9: 21,724,375 (GRCm39)	M1541K	probably damaging	Het
Dzip1l	C	T	9: 99,547,888 (GRCm39)	T714I	probably benign	Het
Exoc6b	T	C	6: 84,825,807 (GRCm39)	R535G	probably damaging	Het
Fam83h	A	G	15: 75,876,588 (GRCm39)	S250P	probably benign	Het
Fat4	C	T	3: 39,036,107 (GRCm39)	T3253I	probably damaging	Het
Fer1l6	T	A	15: 58,501,227 (GRCm39)	F1302I	probably damaging	Het
Fmnl1	T	G	11: 103,085,600 (GRCm39)		probably benign	Het
Gckr	C	A	5: 31,459,554 (GRCm39)	F201L	possibly damaging	Het
Gm10036	A	G	18: 15,966,292 (GRCm39)	T148A	probably benign	Het
Gm5142	G	A	14: 59,415,909 (GRCm39)	S83F	probably benign	Het
Gpr37	A	T	6: 25,689,004 (GRCm39)	V31D	possibly damaging	Het
Gramd2b	A	T	18: 56,618,321 (GRCm39)	Y207F	probably damaging	Het
Hr	T	C	14: 70,801,124 (GRCm39)		probably null	Het
Igf2r	A	G	17: 12,952,753 (GRCm39)	L231P	probably damaging	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Insyn2b	T	A	11: 34,352,030 (GRCm39)	V24E	probably damaging	Het
Kcnu1	T	C	8: 26,408,491 (GRCm39)	S101P	probably benign	Het
Klhl23	T	G	2: 69,664,310 (GRCm39)	V553G	probably damaging	Het
Lrp1	T	C	10: 127,388,745 (GRCm39)	I3235V	probably damaging	Het
Mb	A	T	15: 76,900,256 (GRCm39)	I57N	probably damaging	Het
Micu1	T	C	10: 59,624,843 (GRCm39)	I295T	possibly damaging	Het
Mink1	G	A	11: 70,498,601 (GRCm39)	V589I	possibly damaging	Het
Mndal	T	C	1: 173,703,160 (GRCm39)	K82E	probably damaging	Het
Mroh1	A	C	15: 76,321,517 (GRCm39)	K1066T	probably benign	Het
Muc5b	T	A	7: 141,396,192 (GRCm39)	N149K	unknown	Het
Myo7b	G	T	18: 32,104,626 (GRCm39)	L1404I	probably damaging	Het
Nlrc4	A	G	17: 74,753,001 (GRCm39)	S461P	probably damaging	Het
Nudt12	A	T	17: 59,310,348 (GRCm39)	D418E	probably benign	Het
Or2g7	T	A	17: 38,378,948 (GRCm39)	D295E	probably benign	Het
Or5g27	G	T	2: 85,409,746 (GRCm39)	R54S	possibly damaging	Het
Pcdha1	A	G	18: 37,292,326 (GRCm39)	H817R	probably damaging	Het
Pcdha4	A	G	18: 37,087,080 (GRCm39)	Y421C	probably damaging	Het
Pcf11	T	C	7: 92,306,886 (GRCm39)	D1094G	probably benign	Het
Pck2	A	T	14: 55,785,223 (GRCm39)	D427V	probably damaging	Het
Pclo	A	G	5: 14,726,421 (GRCm39)	T1760A	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,188 (GRCm39)	Y83N	probably damaging	Het
Pgs1	T	C	11: 117,893,312 (GRCm39)	I213T	probably damaging	Het
Plin4	T	A	17: 56,410,969 (GRCm39)	T1021S	probably damaging	Het
Plxnb1	T	A	9: 108,941,375 (GRCm39)	I1677N	probably damaging	Het
Pm20d2	T	C	4: 33,174,752 (GRCm39)	E378G	possibly damaging	Het
Prkcq	T	G	2: 11,231,661 (GRCm39)		probably null	Het
Pvr	A	G	7: 19,639,105 (GRCm39)	S392P	possibly damaging	Het
Rad51ap2	G	C	12: 11,507,432 (GRCm39)	L451F	possibly damaging	Het
Rbm20	A	G	19: 53,823,197 (GRCm39)	E598G	probably damaging	Het
Rho	A	T	6: 115,912,504 (GRCm39)	N123Y	possibly damaging	Het
Rictor	T	C	15: 6,737,934 (GRCm39)		probably null	Het
Rilpl2	T	G	5: 124,606,656 (GRCm39)	K186T	probably damaging	Het
Rps6ka4	A	C	19: 6,816,992 (GRCm39)	L61R	probably damaging	Het
Sds	C	A	5: 120,618,890 (GRCm39)	Q118K	probably benign	Het
Septin1	C	T	7: 126,816,157 (GRCm39)	R91K	probably benign	Het
Sf3a3	A	G	4: 124,616,673 (GRCm39)	Y185C	probably damaging	Het
Shtn1	T	C	19: 58,998,266 (GRCm39)	M376V	possibly damaging	Het
Slc6a9	A	G	4: 117,714,633 (GRCm39)	T189A	possibly damaging	Het
Slc7a6	T	G	8: 106,922,606 (GRCm39)	V464G	possibly damaging	Het
Smg8	T	A	11: 86,975,919 (GRCm39)	D554V	probably damaging	Het
Sox8	A	G	17: 25,789,082 (GRCm39)		probably null	Het
Spata31e4	G	T	13: 50,857,019 (GRCm39)	V886L	possibly damaging	Het
Spats2l	T	A	1: 57,918,689 (GRCm39)	V41D	probably damaging	Het
Sult2a3	A	T	7: 13,801,493 (GRCm39)	F282Y	probably damaging	Het
Svs3a	T	G	2: 164,132,091 (GRCm39)	Y220D	probably damaging	Het
Teddm1a	T	A	1: 153,768,369 (GRCm39)	Y278N	probably damaging	Het
Tlk1	T	C	2: 70,552,272 (GRCm39)	Y526C	probably damaging	Het
Tmc3	T	A	7: 83,266,025 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,596,583 (GRCm39)	E20110V	probably damaging	Het
Tulp4	A	G	17: 6,264,941 (GRCm39)	D235G	probably damaging	Het
Usp50	T	C	2: 126,622,395 (GRCm39)	Y55C	possibly damaging	Het
Vmn1r224	T	C	17: 20,639,789 (GRCm39)	L122P	probably benign	Het
Vmn2r62	A	G	7: 42,438,473 (GRCm39)	L121P	possibly damaging	Het
Whrn	G	T	4: 63,413,368 (GRCm39)		probably benign	Het
Zer1	G	T	2: 30,001,033 (GRCm39)	H129Q	probably benign	Het
Zfand4	G	A	6: 116,282,618 (GRCm39)	A64T	probably benign	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
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'- TAACCTCTTCATGGTGCGCTTG -3'
(R):5'- CCTAAATTGCTACGGTGGCC -3'

Sequencing Primer
(F):5'- CACAGGTAAAGAATAGGTGTCTCC -3'
(R):5'- TACGGTGGCCCTGGTAAG -3'

Posted On

2019-05-13