Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Psme2b'

219080

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

039980-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48836181-48837017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48836896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

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 damaging
Transcript: ENSMUST00000104958
AA Change: V17A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
AA Change: V17A

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly 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
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
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'- AGCCACACTTAGGGACTTCC -3'
(R):5'- CCGGAAGAGCAAGATTCAGATTC -3'

Sequencing Primer
(F):5'- CATCTCGTCATCCTTGGGTGGAG -3'
(R):5'- GAAGAGCAAGATTCAGATTCAAAATC -3'

Posted On

2014-08-25