Mutagenetix > Incidental Mutation

Incidental Mutation 'R0087:Psme2b'

19967

Institutional Source

Beutler Lab

Gene Symbol

Psme2b

Ensembl Gene

ENSMUSG00000078153

Gene Name

protease (prosome, macropain) activator subunit 2B

Synonyms

Psme2-like, PA28b2, Psme2b-ps, Psme2b

MMRRC Submission

038374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R0087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48836181-48837017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48836544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 134 (D134E)

Ref Sequence

ENSEMBL: ENSMUSP00000100564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000097494] [ENSMUST00000104958]

AlphaFold

P97372

Predicted Effect

probably benign
Transcript: ENSMUST00000059930

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097494

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2e-125	PFAM
Pfam:DLIC	52	107	3.2e-5	PFAM
Pfam:MMR_HSR1	72	235	2e-11	PFAM
low complexity region	430	444	N/A	INTRINSIC
Pfam:IIGP	447	820	1.9e-153	PFAM
Pfam:MMR_HSR1	483	611	3.6e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104958
AA Change: D134E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
AA Change: D134E

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.5%
20x: 82.3%

Validation Efficiency

86% (59/69)

MGI Phenotype

FUNCTION: This gene may encode proteasome activator complex subunit 2 protein (PMID: 10222192). This gene, located on chromosome 11, lacks a structured promoter and is intronless. It has also been described as a pseudogene (PMID: 9914329), however, it has an intact coding region and transcripts can be placed at this location unambiguously. An interferon-inducible gene located on chromosome 14, near the gene that encodes proteasome activator complex subunit 1 protein, is considered the functional gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,215,038 (GRCm39)	L71Q	probably damaging	Het
Adgrv1	T	A	13: 81,535,070 (GRCm39)	I5732F	probably damaging	Het
Adss2	A	T	1: 177,598,788 (GRCm39)	V330E	probably benign	Het
Agps	T	A	2: 75,739,979 (GRCm39)	Y488N	probably damaging	Het
Ap3s1	A	T	18: 46,891,106 (GRCm39)	R66S	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp2a2	C	T	5: 122,599,024 (GRCm39)	V593I	probably benign	Het
Chrna6	C	T	8: 27,897,014 (GRCm39)	V288M	probably damaging	Het
Col4a2	C	T	8: 11,491,296 (GRCm39)	L1232F	probably benign	Het
Dcaf1	A	G	9: 106,740,288 (GRCm39)	N1225D	probably damaging	Het
Degs1	A	G	1: 182,106,875 (GRCm39)	I128T	probably benign	Het
Dnaaf11	T	C	15: 66,341,824 (GRCm39)	T91A	probably benign	Het
Dnah5	A	T	15: 28,350,759 (GRCm39)	T2594S	probably damaging	Het
Dnah8	G	T	17: 30,974,093 (GRCm39)	R2826L	probably damaging	Het
Elf3	A	G	1: 135,184,875 (GRCm39)	Y104H	probably damaging	Het
Fam222b	C	A	11: 78,044,718 (GRCm39)	T93N	probably benign	Het
Fbxw26	A	G	9: 109,554,006 (GRCm39)	I211T	probably benign	Het
Fcho2	T	C	13: 98,871,594 (GRCm39)	T541A	probably benign	Het
Flg2	T	C	3: 93,109,738 (GRCm39)	S589P	unknown	Het
Foxj3	T	A	4: 119,483,597 (GRCm39)	V589E	unknown	Het
Gria1	A	G	11: 57,208,538 (GRCm39)	Y742C	probably damaging	Het
Inpp5d	T	C	1: 87,642,860 (GRCm39)	S672P	probably damaging	Het
Lrrc19	A	C	4: 94,529,009 (GRCm39)	F91C	probably damaging	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mroh3	T	C	1: 136,118,541 (GRCm39)	I561V	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Nbea	G	T	3: 55,998,444 (GRCm39)	T121K	possibly damaging	Het
Nbr1	A	C	11: 101,455,519 (GRCm39)	D91A	probably benign	Het
Ncam2	C	A	16: 81,231,789 (GRCm39)	N84K	probably benign	Het
Or4c35	T	C	2: 89,808,475 (GRCm39)	Y118H	probably damaging	Het
Or51ac3	A	T	7: 103,213,569 (GRCm39)	C306S	probably benign	Het
Or52h9	A	G	7: 104,202,869 (GRCm39)	I248V	possibly damaging	Het
Or52z13	A	G	7: 103,246,928 (GRCm39)	Y135C	probably benign	Het
Or6b6	A	G	7: 106,571,323 (GRCm39)	V76A	probably benign	Het
Pdgfrb	A	T	18: 61,194,585 (GRCm39)	I121F	probably damaging	Het
Peak1	A	T	9: 56,165,609 (GRCm39)	I773N	probably damaging	Het
Pfkfb4	G	T	9: 108,836,769 (GRCm39)	V155F	probably damaging	Het
Pkm	C	T	9: 59,585,382 (GRCm39)	R455*	probably null	Het
Plbd2	C	A	5: 120,632,550 (GRCm39)	E151*	probably null	Het
Pld5	G	A	1: 175,812,025 (GRCm39)	T353M	probably damaging	Het
Rida	T	A	15: 34,488,772 (GRCm39)	D40V	possibly damaging	Het
Rnf126	A	T	10: 79,595,068 (GRCm39)	H265Q	probably damaging	Het
Rock2	C	A	12: 16,978,967 (GRCm39)	Q86K	probably benign	Het
Serpinb1b	A	T	13: 33,269,302 (GRCm39)	T12S	probably benign	Het
Slco6c1	T	A	1: 97,046,303 (GRCm39)	Q277L	probably benign	Het
Spmap2	A	T	10: 79,421,785 (GRCm39)	Y144*	probably null	Het
Sptlc2	T	A	12: 87,415,892 (GRCm39)	H45L	probably benign	Het
Srsf4	A	G	4: 131,627,641 (GRCm39)		probably benign	Het
Sspo	A	G	6: 48,454,719 (GRCm39)	S2969G	probably damaging	Het
Steap1	C	T	5: 5,786,664 (GRCm39)	G258R	probably damaging	Het
Stk19	A	T	17: 35,055,851 (GRCm39)	M1K	probably null	Het
Stk-ps2	C	A	1: 46,069,049 (GRCm39)		noncoding transcript	Het
Taf1c	C	T	8: 120,327,726 (GRCm39)	R332H	probably damaging	Het
Thbs4	T	A	13: 92,891,743 (GRCm39)	T791S	probably damaging	Het
Tjap1	A	G	17: 46,574,652 (GRCm39)	L21P	probably damaging	Het
Tmem145	A	G	7: 25,007,268 (GRCm39)	Y148C	probably damaging	Het
Tmem267	T	A	13: 120,070,810 (GRCm39)	V155E	probably benign	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Tyro3	T	G	2: 119,632,182 (GRCm39)	I83S	probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn1r53	A	T	6: 90,200,413 (GRCm39)	C304S	probably benign	Het
Vwf	G	A	6: 125,622,917 (GRCm39)	M1761I	probably benign	Het
Zfp276	T	C	8: 123,991,786 (GRCm39)	Y445H	probably damaging	Het
Zfp407	A	T	18: 84,578,536 (GRCm39)	I859N	probably damaging	Het

Other mutations in Psme2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02490:Psme2b	APN	11	48,836,946 (GRCm39)	utr 5 prime	probably benign
IGL03309:Psme2b	APN	11	48,836,626 (GRCm39)	splice site	probably null
R0523:Psme2b	UTSW	11	48,836,609 (GRCm39)	missense	probably damaging	0.97
R1467:Psme2b	UTSW	11	48,836,467 (GRCm39)	missense	probably damaging	1.00
R1467:Psme2b	UTSW	11	48,836,467 (GRCm39)	missense	probably damaging	1.00
R1502:Psme2b	UTSW	11	48,836,576 (GRCm39)	missense	probably damaging	1.00
R1540:Psme2b	UTSW	11	48,836,209 (GRCm39)	splice site	probably null
R1793:Psme2b	UTSW	11	48,836,361 (GRCm39)	missense	probably damaging	1.00
R1967:Psme2b	UTSW	11	48,836,896 (GRCm39)	missense	probably damaging	0.99
R2426:Psme2b	UTSW	11	48,836,890 (GRCm39)	missense	probably benign	0.20
R4667:Psme2b	UTSW	11	48,836,493 (GRCm39)	missense	probably benign	0.00
R5011:Psme2b	UTSW	11	48,836,654 (GRCm39)	missense	probably benign	0.00
R5013:Psme2b	UTSW	11	48,836,654 (GRCm39)	missense	probably benign	0.00
R6131:Psme2b	UTSW	11	48,836,752 (GRCm39)	missense	probably damaging	0.96
R6860:Psme2b	UTSW	11	48,836,307 (GRCm39)	nonsense	probably null
R7079:Psme2b	UTSW	11	48,836,443 (GRCm39)	missense	probably damaging	1.00
R7794:Psme2b	UTSW	11	48,836,683 (GRCm39)	missense	probably benign
R7888:Psme2b	UTSW	11	48,836,402 (GRCm39)	missense	possibly damaging	0.72
R9449:Psme2b	UTSW	11	48,836,566 (GRCm39)	missense	probably damaging	0.98
R9748:Psme2b	UTSW	11	48,836,779 (GRCm39)	missense	possibly damaging	0.95
RF020:Psme2b	UTSW	11	48,836,397 (GRCm39)	missense	probably damaging	0.97
X0025:Psme2b	UTSW	11	48,836,713 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGCATAGAAGGCCCTCAG -3'
(R):5'- TGCAGGAGGATTCCCTCAATGTGG -3'

Sequencing Primer
(F):5'- ATAGAAGGCCCTCAGGTCCAG -3'
(R):5'- ATTCCCTCAATGTGGCCGAC -3'

Posted On

2013-04-11