Mutagenetix > Incidental Mutation

Incidental Mutation 'R6372:Psmb5'

513598

Institutional Source

Beutler Lab

Gene Symbol

Psmb5

Ensembl Gene

ENSMUSG00000022193

Gene Name

proteasome (prosome, macropain) subunit, beta type 5

Synonyms

MMRRC Submission

044522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54851577-54855452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54854130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 116 (R116L)

Ref Sequence

ENSEMBL: ENSMUSP00000022803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257] [ENSMUST00000228446]

AlphaFold

O55234

PDB Structure

Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022803
AA Change: R116L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: R116L

Domain	Start	End	E-Value	Type
low complexity region	17	42	N/A	INTRINSIC
Pfam:Proteasome	56	238	8.3e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102174

Predicted Effect

probably benign
Transcript: ENSMUST00000227257

Predicted Effect

probably benign
Transcript: ENSMUST00000228446

Meta Mutation Damage Score

0.6772

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,066,088 (GRCm39)	H136Q	possibly damaging	Het
Aim2	T	A	1: 173,282,802 (GRCm39)		probably null	Het
Atp13a3	T	C	16: 30,162,273 (GRCm39)	H696R	probably damaging	Het
Atrnl1	T	C	19: 57,638,764 (GRCm39)	S301P	probably benign	Het
Atxn1	T	A	13: 45,710,932 (GRCm39)	I667F	probably damaging	Het
Cacnb4	T	A	2: 52,324,679 (GRCm39)	Y415F	probably benign	Het
Ccdc183	T	C	2: 25,506,176 (GRCm39)	D140G	probably benign	Het
Clec2g	A	C	6: 128,925,726 (GRCm39)	H45P	probably benign	Het
Col5a3	A	G	9: 20,696,882 (GRCm39)	V917A	probably damaging	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Dnajc28	T	C	16: 91,414,176 (GRCm39)	I23V	probably benign	Het
Elovl6	T	C	3: 129,426,751 (GRCm39)	F139S	probably damaging	Het
Fcgbp	A	G	7: 27,806,433 (GRCm39)	T2134A	probably damaging	Het
Fcrl5	C	T	3: 87,351,501 (GRCm39)	Q250*	probably null	Het
Gimap1	T	A	6: 48,720,290 (GRCm39)	*301K	probably null	Het
Gm17472	T	C	6: 42,957,823 (GRCm39)	S31P	possibly damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gnl1	T	C	17: 36,293,427 (GRCm39)	F204S	probably damaging	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hk1	T	C	10: 62,127,757 (GRCm39)	H370R	probably benign	Het
Ighv7-2	G	A	12: 113,876,075 (GRCm39)	T10I	probably benign	Het
Itga9	A	G	9: 118,726,389 (GRCm39)	K448E	probably damaging	Het
Lama4	C	A	10: 38,943,948 (GRCm39)	N750K	probably benign	Het
Megf11	T	C	9: 64,613,907 (GRCm39)	Y1077H	probably damaging	Het
Mrpl45	T	C	11: 97,212,388 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,457,812 (GRCm39)	D2185G	possibly damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nlrc5	T	C	8: 95,206,378 (GRCm39)	L743P	probably damaging	Het
Nol4	A	G	18: 23,171,613 (GRCm39)		probably null	Het
Nol9	T	C	4: 152,130,452 (GRCm39)	S329P	probably damaging	Het
Ntrk1	T	C	3: 87,693,355 (GRCm39)	D259G	probably benign	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or4k40	T	A	2: 111,251,147 (GRCm39)	I50F	probably benign	Het
Or5al5	T	C	2: 85,961,198 (GRCm39)	T270A	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8h8	T	A	2: 86,753,499 (GRCm39)	I126F	probably damaging	Het
Pbx4	C	A	8: 70,324,694 (GRCm39)	A365E	possibly damaging	Het
Pcdhb19	T	A	18: 37,630,419 (GRCm39)	N71K	probably benign	Het
Pde2a	G	A	7: 101,130,599 (GRCm39)	A80T	probably benign	Het
Recql	A	G	6: 142,322,566 (GRCm39)	V112A	probably damaging	Het
Rhbdl3	C	A	11: 80,221,482 (GRCm39)	L207I	probably damaging	Het
Rtkn	A	G	6: 83,128,882 (GRCm39)	D459G	possibly damaging	Het
Rubcnl	C	A	14: 75,285,009 (GRCm39)	S509R	probably damaging	Het
Slc26a8	T	C	17: 28,863,777 (GRCm39)	T661A	probably benign	Het
Sspo	A	T	6: 48,449,475 (GRCm39)	D2472V	probably damaging	Het
Taf4b	T	G	18: 14,937,790 (GRCm39)	V258G	probably damaging	Het
Tbc1d19	T	G	5: 54,014,252 (GRCm39)	S293R	possibly damaging	Het
Tecpr1	C	T	5: 144,153,776 (GRCm39)	R159Q	probably damaging	Het
Tlr3	A	G	8: 45,850,048 (GRCm39)	S874P	probably damaging	Het
Tnk2	T	A	16: 32,498,603 (GRCm39)	W639R	probably damaging	Het
Tpmt	C	T	13: 47,189,370 (GRCm39)		probably null	Het
Trappc9	T	A	15: 72,461,923 (GRCm39)	D935V	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,118 (GRCm39)	V4A	probably damaging	Het
Ubn1	C	T	16: 4,899,502 (GRCm39)	T1082I	possibly damaging	Het
Usf2	G	A	7: 30,654,738 (GRCm39)	Q35*	probably null	Het
Vmn1r57	T	C	7: 5,223,826 (GRCm39)	M117T	possibly damaging	Het
Vmn2r65	G	T	7: 84,589,861 (GRCm39)	A685E	probably damaging	Het
Vxn	G	A	1: 9,683,546 (GRCm39)	E45K	probably damaging	Het
Zeb2	T	C	2: 44,892,551 (GRCm39)	E166G	probably damaging	Het
Zfp808	T	C	13: 62,320,291 (GRCm39)	S507P	probably damaging	Het

Other mutations in Psmb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Psmb5	APN	14	54,855,264 (GRCm39)	missense	possibly damaging	0.85
IGL02967:Psmb5	APN	14	54,854,083 (GRCm39)	missense	probably benign	0.11
IGL03095:Psmb5	APN	14	54,854,014 (GRCm39)	missense	probably damaging	1.00
R2447:Psmb5	UTSW	14	54,851,927 (GRCm39)	missense	probably damaging	0.97
R5651:Psmb5	UTSW	14	54,854,221 (GRCm39)	missense	possibly damaging	0.64
R6346:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6657:Psmb5	UTSW	14	54,851,840 (GRCm39)	missense	possibly damaging	0.61
R6687:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6688:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6752:Psmb5	UTSW	14	54,854,212 (GRCm39)	missense	probably benign	0.00
R7007:Psmb5	UTSW	14	54,854,166 (GRCm39)	missense	probably damaging	0.99
R7801:Psmb5	UTSW	14	54,854,212 (GRCm39)	missense	probably benign	0.00
R8066:Psmb5	UTSW	14	54,851,698 (GRCm39)	missense	probably benign	0.00
R8278:Psmb5	UTSW	14	54,855,342 (GRCm39)	missense	probably benign	0.13
R8497:Psmb5	UTSW	14	54,851,837 (GRCm39)	missense	possibly damaging	0.95
R8728:Psmb5	UTSW	14	54,855,261 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGCTCACAGGACACAACTC -3'
(R):5'- GCAAAGCCAGGTTATCTTTCTG -3'

Sequencing Primer
(F):5'- ACTCACCAGGGCCTCTC -3'
(R):5'- TGGTCTTACGGGGCCTCTC -3'

Posted On

2018-04-27