Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02490:Psme2b'

295614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psme2b

Ensembl Gene

ENSMUSG00000078153

Gene Name

protease (prosome, macropain) activator subunit 2B

Synonyms

Psme2-like, PA28b2, Psme2b-ps, Psme2b

Accession Numbers

Essential gene?

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

Stock #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

48836181-48837017 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 48836946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000104958

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153

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

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,078,559 (GRCm39)		noncoding transcript	Het
Adam5	A	T	8: 25,271,720 (GRCm39)	Y562*	probably null	Het
Akr1d1	T	C	6: 37,535,423 (GRCm39)	V269A	probably damaging	Het
Anks4b	A	G	7: 119,773,241 (GRCm39)	T34A	probably damaging	Het
Arhgef40	A	G	14: 52,226,652 (GRCm39)	N232S	probably damaging	Het
Cdc40	C	T	10: 40,717,767 (GRCm39)	V379I	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh13	A	G	8: 119,822,062 (GRCm39)	D307G	probably damaging	Het
Ces1h	A	G	8: 94,083,627 (GRCm39)		probably null	Het
Chchd6	T	A	6: 89,361,656 (GRCm39)	H249L	possibly damaging	Het
Clxn	T	A	16: 14,734,810 (GRCm39)	V60E	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Cwc15	A	T	9: 14,413,320 (GRCm39)	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,527,446 (GRCm39)	I264T	probably damaging	Het
Dapk1	A	G	13: 60,897,148 (GRCm39)	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,291,635 (GRCm39)	Y207N	probably damaging	Het
Flt3	T	A	5: 147,268,106 (GRCm39)	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,359,817 (GRCm39)		probably benign	Het
Foxm1	T	A	6: 128,350,314 (GRCm39)	C400*	probably null	Het
Ftmt	A	C	18: 52,464,760 (GRCm39)	R25S	probably benign	Het
Guca1b	T	C	17: 47,700,190 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,456,676 (GRCm39)	K680N	possibly damaging	Het
Hephl1	C	A	9: 14,964,981 (GRCm39)	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,395,972 (GRCm39)		probably benign	Het
Ints2	A	T	11: 86,124,009 (GRCm39)	I593K	possibly damaging	Het
Iqcg	T	A	16: 32,855,937 (GRCm39)	K213*	probably null	Het
Kif1b	T	A	4: 149,288,665 (GRCm39)	S1259C	probably benign	Het
Klc1	C	T	12: 111,748,210 (GRCm39)	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,593,269 (GRCm39)	T301A	probably benign	Het
Lrrc40	T	C	3: 157,768,336 (GRCm39)	L497P	probably damaging	Het
Masp2	C	T	4: 148,692,400 (GRCm39)	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,043,737 (GRCm39)	Y242F	probably damaging	Het
Nup98	A	G	7: 101,801,573 (GRCm39)	V784A	probably damaging	Het
Or5w15	T	C	2: 87,568,299 (GRCm39)	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 13,015,341 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,334,922 (GRCm39)	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,628,589 (GRCm39)	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,550,241 (GRCm39)	N172D	probably damaging	Het
Plec	T	C	15: 76,073,463 (GRCm39)	Y517C	probably damaging	Het
Plod2	G	T	9: 92,468,895 (GRCm39)	A207S	probably benign	Het
Plxdc1	A	T	11: 97,845,604 (GRCm39)	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,581,726 (GRCm39)		probably null	Het
Procr	T	C	2: 155,595,352 (GRCm39)	L52P	probably damaging	Het
Rgs22	G	A	15: 36,054,993 (GRCm39)	A727V	probably damaging	Het
Rock2	T	A	12: 16,998,564 (GRCm39)	W277R	probably damaging	Het
Rpl26	A	G	11: 68,795,216 (GRCm39)	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,559,474 (GRCm39)		probably null	Het
Sdr39u1	G	A	14: 56,135,798 (GRCm39)	P98L	probably damaging	Het
Sgms1	T	C	19: 32,137,543 (GRCm39)	K8E	probably damaging	Het
Stk31	T	C	6: 49,394,469 (GRCm39)	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,797,588 (GRCm39)	E79A	probably benign	Het
Ttll6	A	T	11: 96,047,546 (GRCm39)	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,542,561 (GRCm39)	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,761,246 (GRCm39)	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,594,360 (GRCm39)	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,611,250 (GRCm39)	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,590,819 (GRCm39)	Y288*	probably null	Het
Zfp993	T	C	4: 146,742,074 (GRCm39)	S133P	probably damaging	Het

Other mutations in Psme2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03309:Psme2b	APN	11	48,836,626 (GRCm39)	splice site	probably null
R0087:Psme2b	UTSW	11	48,836,544 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2015-04-16