Incidental Mutation 'R0757:Psmg2'
ID 69482
Institutional Source Beutler Lab
Gene Symbol Psmg2
Ensembl Gene ENSMUSG00000024537
Gene Name proteasome (prosome, macropain) assembly chaperone 2
Synonyms 1700017I17Rik, Tnfsf5ip1, Clast3
MMRRC Submission 038937-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R0757 (G1)
Quality Score 217
Status Not validated
Chromosome 18
Chromosomal Location 67774669-67787232 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTTCAGTT to CTTCAGTTCAGTT at 67779095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025418] [ENSMUST00000097542]
AlphaFold Q9EST4
Predicted Effect probably null
Transcript: ENSMUST00000025418
SMART Domains Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537

DomainStartEndE-ValueType
Pfam:PAC2 17 230 3.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097542
SMART Domains Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542

DomainStartEndE-ValueType
Pfam:CEP76-C2 99 258 4.1e-64 PFAM
low complexity region 383 393 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Blast:KIND 604 654 2e-27 BLAST
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Plppr5 G A 3: 117,369,540 (GRCm39) V66M probably benign Het
Scrib TCTCCTCCTCCTCCTCCTC TCTCCTCCTCCTCCTC 15: 75,934,599 (GRCm39) probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Other mutations in Psmg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01557:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01560:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01563:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01569:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01570:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01571:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01574:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01586:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01611:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01615:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01617:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01630:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL03064:Psmg2 APN 18 67,779,102 (GRCm39) nonsense probably null
R1320:Psmg2 UTSW 18 67,777,391 (GRCm39) missense probably damaging 0.98
R1363:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1368:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1759:Psmg2 UTSW 18 67,781,246 (GRCm39) missense probably benign 0.04
R1761:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R2696:Psmg2 UTSW 18 67,781,288 (GRCm39) missense possibly damaging 0.88
R4806:Psmg2 UTSW 18 67,781,992 (GRCm39) missense probably benign 0.14
R4916:Psmg2 UTSW 18 67,781,926 (GRCm39) missense probably damaging 1.00
R5737:Psmg2 UTSW 18 67,779,107 (GRCm39) missense possibly damaging 0.95
R6620:Psmg2 UTSW 18 67,774,807 (GRCm39) critical splice donor site probably null
R6823:Psmg2 UTSW 18 67,781,927 (GRCm39) missense possibly damaging 0.63
R7147:Psmg2 UTSW 18 67,786,338 (GRCm39) missense probably benign 0.03
R8547:Psmg2 UTSW 18 67,779,077 (GRCm39) missense possibly damaging 0.71
R8826:Psmg2 UTSW 18 67,787,158 (GRCm39) utr 3 prime probably benign
Z1177:Psmg2 UTSW 18 67,786,244 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTCTGATCTTCACACTTGAACACCG -3'
(R):5'- GAGGGTACTACTGTTGCAAGGAGC -3'

Sequencing Primer
(F):5'- gacactccagaagagagcatc -3'
(R):5'- cctgcctctgcctcctg -3'
Posted On 2013-09-30