Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Psmd2'

367550

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20470402-20482164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20481429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 828 (R828Q)

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: R828Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: R828Q

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 benign
Transcript: ENSMUST00000231897

Predicted Effect

probably benign
Transcript: ENSMUST00000232513

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,300 (GRCm39)	T148A	probably benign	Het
Abcc4	G	T	14: 118,721,796 (GRCm39)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,249,516 (GRCm39)		probably null	Het
Aqp9	C	T	9: 71,030,152 (GRCm39)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,621 (GRCm39)	N533I	probably damaging	Het
Brwd1	A	G	16: 95,804,518 (GRCm39)	V1884A	probably benign	Het
Ccdc106	G	A	7: 5,060,521 (GRCm39)		probably null	Het
Cfap46	A	T	7: 139,210,524 (GRCm39)	L1774Q	probably null	Het
Cfap95	A	G	19: 23,536,337 (GRCm39)	L190P	probably damaging	Het
Cibar1	T	A	4: 12,155,689 (GRCm39)	Q311L	probably benign	Het
Clec2h	G	A	6: 128,651,118 (GRCm39)	E133K	probably damaging	Het
Cntn1	T	A	15: 92,202,972 (GRCm39)	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,630,917 (GRCm39)	M62L	probably benign	Het
Col7a1	T	C	9: 108,800,993 (GRCm39)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,684 (GRCm39)	L28*	probably null	Het
Crb1	T	A	1: 139,255,942 (GRCm39)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,311,512 (GRCm39)	S426T	probably benign	Het
Cspg5	T	A	9: 110,080,195 (GRCm39)	N373K	probably damaging	Het
Ctso	T	C	3: 81,840,047 (GRCm39)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,519,434 (GRCm39)	D348A	probably benign	Het
Diaph1	A	T	18: 37,986,604 (GRCm39)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,900,375 (GRCm39)	K397*	probably null	Het
Dock3	T	A	9: 106,829,557 (GRCm39)	H1119L	possibly damaging	Het
Dok4	G	T	8: 95,591,795 (GRCm39)		probably null	Het
Dram2	A	G	3: 106,480,361 (GRCm39)	T225A	probably damaging	Het
Dst	G	A	1: 34,288,565 (GRCm39)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,775,996 (GRCm39)	F18S	probably damaging	Het
Epha5	A	G	5: 84,298,278 (GRCm39)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,418,884 (GRCm39)		probably null	Het
Exph5	C	T	9: 53,284,965 (GRCm39)	T682I	possibly damaging	Het
Fnbp1l	A	T	3: 122,351,752 (GRCm39)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,725,314 (GRCm39)	D580E	probably benign	Het
Gm10277	G	A	11: 77,676,534 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,756,126 (GRCm39)	V352E	probably damaging	Het
Gtf2a1l	C	A	17: 88,997,448 (GRCm39)	P93Q	probably benign	Het
Hydin	A	T	8: 111,259,515 (GRCm39)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,876,087 (GRCm39)	I6S	probably benign	Het
Irs1	A	G	1: 82,265,696 (GRCm39)	V840A	probably benign	Het
Itgal	A	G	7: 126,927,405 (GRCm39)	E965G	probably damaging	Het
Izumo1	T	G	7: 45,272,233 (GRCm39)	F5V	probably benign	Het
Izumo1	T	A	7: 45,272,234 (GRCm39)	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,978,687 (GRCm39)	S175P	probably damaging	Het
Klf14	A	G	6: 30,934,960 (GRCm39)	F225L	probably damaging	Het
Kpna1	T	C	16: 35,853,773 (GRCm39)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,617,494 (GRCm39)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,665,986 (GRCm39)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,292,834 (GRCm39)	N229Y	probably damaging	Het
Marchf3	T	A	18: 56,916,170 (GRCm39)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,300,124 (GRCm39)		probably null	Het
Med27	T	A	2: 29,303,515 (GRCm39)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,518,273 (GRCm39)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,794,775 (GRCm39)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,179,087 (GRCm39)	L1104F	probably damaging	Het
Mta3	A	G	17: 84,063,103 (GRCm39)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 91,096,727 (GRCm39)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm39)	I155V	probably benign	Het
Myh7b	G	A	2: 155,468,314 (GRCm39)	W834*	probably null	Het
Myo18b	T	A	5: 112,840,093 (GRCm39)	R2567*	probably null	Het
Nars2	A	T	7: 96,684,452 (GRCm39)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,312,260 (GRCm39)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,268,878 (GRCm39)	S167R	probably damaging	Het
Nup133	T	A	8: 124,656,137 (GRCm39)	D448V	probably damaging	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or5p70	A	T	7: 107,995,229 (GRCm39)	K301*	probably null	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdh8	C	T	14: 80,005,710 (GRCm39)	A893T	possibly damaging	Het
Per3	A	T	4: 151,093,716 (GRCm39)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm39)	S44P	probably damaging	Het
Pou4f2	T	A	8: 79,161,865 (GRCm39)	H246L	possibly damaging	Het
Ptprq	A	G	10: 107,524,288 (GRCm39)	S482P	probably benign	Het
Rbm14	G	T	19: 4,852,671 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,254,698 (GRCm39)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 70,034,499 (GRCm39)	I242T	probably benign	Het
Runx1	C	A	16: 92,492,629 (GRCm39)	V5L	possibly damaging	Het
Shld2	G	A	14: 33,990,663 (GRCm39)	T81M	probably damaging	Het
Slc13a1	A	T	6: 24,100,339 (GRCm39)	Y381*	probably null	Het
Smyd3	A	T	1: 178,921,961 (GRCm39)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,326,658 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,934 (GRCm39)	V678I	probably damaging	Het
Spag5	G	A	11: 78,195,592 (GRCm39)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,704,154 (GRCm39)	R560W	probably damaging	Het
Spen	T	C	4: 141,199,907 (GRCm39)	T2884A	probably benign	Het
Spg11	G	A	2: 121,895,963 (GRCm39)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,613,234 (GRCm39)		probably null	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Sspo	A	G	6: 48,437,813 (GRCm39)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,288,982 (GRCm39)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,261,377 (GRCm39)	N76K	probably benign	Het
Trpm6	A	G	19: 18,790,857 (GRCm39)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,024,655 (GRCm39)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,569,296 (GRCm39)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,464,088 (GRCm39)		probably null	Het
Ubr5	A	C	15: 38,018,541 (GRCm39)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,550,406 (GRCm39)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,529,966 (GRCm39)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,219,377 (GRCm39)		probably null	Het
Vill	T	A	9: 118,897,502 (GRCm39)	M259K	probably damaging	Het
Vldlr	T	C	19: 27,217,290 (GRCm39)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,831,887 (GRCm39)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,946 (GRCm39)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,836,821 (GRCm39)	V1773A	probably benign	Het
Vtn	A	G	11: 78,392,400 (GRCm39)	D326G	probably benign	Het
Wdr93	A	T	7: 79,426,511 (GRCm39)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,317,953 (GRCm39)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,291,311 (GRCm39)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,420,312 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,268,309 (GRCm39)	D369G	probably damaging	Het
Zfp608	T	A	18: 55,121,372 (GRCm39)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,088,286 (GRCm39)	V705E	probably benign	Het
Zfp974	T	C	7: 27,625,733 (GRCm39)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,663,416 (GRCm39)	Q52*	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
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'- GGAACAGAGCTTGCTCTTAGG -3'
(R):5'- CCAAGTTCTTTTGGTATACCCTGAG -3'

Sequencing Primer
(F):5'- CAGAGCTTGCTCTTAGGTAATAGTTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2015-12-29