Incidental Mutation 'R5737:Psmg2'
ID 444599
Institutional Source Beutler Lab
Gene Symbol Psmg2
Ensembl Gene ENSMUSG00000024537
Gene Name proteasome (prosome, macropain) assembly chaperone 2
Synonyms 1700017I17Rik, Tnfsf5ip1, Clast3
MMRRC Submission 043195-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R5737 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 67774669-67787232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67779107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000025418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025418] [ENSMUST00000097542]
AlphaFold Q9EST4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025418
AA Change: S92P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537
AA Change: S92P

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,707,055 (GRCm39) V78A probably damaging Het
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Aldh1l2 T A 10: 83,356,189 (GRCm39) D67V probably damaging Het
Ankfy1 T A 11: 72,623,100 (GRCm39) D253E probably damaging Het
Arhgap42 T C 9: 9,059,069 (GRCm39) K159R probably damaging Het
Atrnl1 C T 19: 57,766,320 (GRCm39) A1219V possibly damaging Het
Cacna1c C T 6: 118,718,893 (GRCm39) V386I probably damaging Het
Cacna2d2 A G 9: 107,403,946 (GRCm39) T1015A possibly damaging Het
Cadps2 T C 6: 23,328,804 (GRCm39) M999V probably benign Het
Ccer1 A T 10: 97,530,546 (GRCm39) H403L possibly damaging Het
Cubn A T 2: 13,393,702 (GRCm39) I1433N probably damaging Het
Dcbld2 T C 16: 58,281,348 (GRCm39) V531A probably damaging Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Dnah3 T C 7: 119,658,421 (GRCm39) K920R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dscaml1 C T 9: 45,656,483 (GRCm39) R1608C probably damaging Het
Gtf3c2 A G 5: 31,325,593 (GRCm39) probably null Het
Heca A T 10: 17,791,462 (GRCm39) M198K possibly damaging Het
Igkv8-24 A T 6: 70,194,122 (GRCm39) S29T probably benign Het
Lipo2 A C 19: 33,699,096 (GRCm39) N311K probably damaging Het
Lmo7 T G 14: 102,124,672 (GRCm39) I266S probably damaging Het
Naip2 T A 13: 100,298,362 (GRCm39) E558V probably benign Het
Nelfa T A 5: 34,056,457 (GRCm39) probably null Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Rasa2 C T 9: 96,452,718 (GRCm39) probably null Het
Slc6a3 A C 13: 73,692,923 (GRCm39) N181T probably damaging Het
Tdrd5 A G 1: 156,128,294 (GRCm39) M136T probably benign Het
Tmem178b A C 6: 40,222,575 (GRCm39) M97L possibly damaging Het
Tnfaip8l1 A G 17: 56,478,950 (GRCm39) D80G probably benign Het
Tomt T C 7: 101,549,524 (GRCm39) T255A probably benign Het
Uqcc5 A G 14: 30,850,676 (GRCm39) I22T probably benign Het
Vmn2r26 G T 6: 124,016,408 (GRCm39) V291F probably benign 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
R0757:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift 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
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'- ACACCGGTCCTAAAGCTTATG -3'
(R):5'- CAGAGAACGTGTTAAGCCTCATG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CGTGTTAAGCCTCATGAATAATCCAC -3'
Posted On 2016-11-21