Incidental Mutation 'R6131:Psme2b'
ID 487142
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 044278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 48836181-48837017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48836752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D65G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
AA Change: D65G

DomainStartEndE-ValueType
Pfam:PA28_alpha 11 71 1.2e-26 PFAM
Pfam:PA28_beta 93 237 5.3e-58 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V probably damaging Het
Other mutations in Psme2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAATTGCCACCCCAAAATCATTTC -3'
(R):5'- CTTGAGTGGAGAAGCCCGAA -3'

Sequencing Primer
(F):5'- TGGATCCACGTGATTACCAG -3'
(R):5'- CCCGAAAACAGGTGGATGTCTTC -3'
Posted On 2017-10-10