Incidental Mutation 'IGL00435:Pgm2'
ID 5623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgm2
Ensembl Gene ENSMUSG00000029171
Gene Name phosphoglucomutase 2
Synonyms Pgm-1, 3230402E02Rik, Pgm1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00435
Quality Score
Status
Chromosome 5
Chromosomal Location 64250293-64285694 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 64265612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000087324]
AlphaFold Q7TSV4
Predicted Effect probably benign
Transcript: ENSMUST00000087324
SMART Domains Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:PGM_PMM_I 62 211 7.8e-37 PFAM
Pfam:PGM_PMM_II 235 344 1.9e-25 PFAM
Pfam:PGM_PMM_III 351 480 4.6e-15 PFAM
Pfam:PGM_PMM_IV 523 603 5.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177427
Predicted Effect probably benign
Transcript: ENSMUST00000197577
Predicted Effect probably benign
Transcript: ENSMUST00000199093
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,152,796 (GRCm39) D657E probably damaging Het
Cd200l1 A T 16: 45,264,483 (GRCm39) L25Q probably damaging Het
Cd68 T C 11: 69,556,676 (GRCm39) T44A probably damaging Het
Cecr2 C T 6: 120,733,678 (GRCm39) T555M probably damaging Het
Cep170b A G 12: 112,701,628 (GRCm39) Q169R probably damaging Het
Cs T C 10: 128,195,912 (GRCm39) F374L probably damaging Het
Dpy19l1 T C 9: 24,393,226 (GRCm39) E181G probably damaging Het
Efcab12 T C 6: 115,800,625 (GRCm39) T133A probably benign Het
Esr2 G A 12: 76,180,653 (GRCm39) R423W probably damaging Het
Eya4 T C 10: 23,034,995 (GRCm39) Y120C probably benign Het
Fbxw8 A G 5: 118,206,202 (GRCm39) M582T probably benign Het
Fcgbpl1 A T 7: 27,863,953 (GRCm39) D2575V probably damaging Het
Ghsr A G 3: 27,426,532 (GRCm39) E196G possibly damaging Het
Gm10024 G A 10: 77,547,295 (GRCm39) probably benign Het
Gpr65 A G 12: 98,241,815 (GRCm39) E156G probably damaging Het
Gtf3c3 T C 1: 54,466,694 (GRCm39) Y249C possibly damaging Het
H2-T23 G A 17: 36,342,673 (GRCm39) A155V probably damaging Het
Hadha A G 5: 30,327,171 (GRCm39) S556P probably benign Het
Hdac7 T A 15: 97,707,376 (GRCm39) K187N probably damaging Het
Inpp5j T C 11: 3,452,255 (GRCm39) I332V probably benign Het
Kank1 A G 19: 25,407,600 (GRCm39) D1198G probably benign Het
Kdr A G 5: 76,129,410 (GRCm39) L159P probably damaging Het
Me2 T C 18: 73,903,713 (GRCm39) E585G probably benign Het
Nfu1 A T 6: 86,992,577 (GRCm39) T64S probably damaging Het
Nsd3 A G 8: 26,166,728 (GRCm39) D632G probably benign Het
Pcna T C 2: 132,093,852 (GRCm39) D97G probably benign Het
Phactr1 C A 13: 43,110,122 (GRCm39) R2S probably damaging Het
Psmd11 T A 11: 80,361,210 (GRCm39) I347N possibly damaging Het
Rad21l T C 2: 151,495,436 (GRCm39) T416A probably benign Het
Ruvbl2 A T 7: 45,074,596 (GRCm39) S181T probably benign Het
Rxrb A G 17: 34,253,049 (GRCm39) T109A probably damaging Het
Ryr3 T A 2: 112,490,494 (GRCm39) Y3785F probably damaging Het
Sec16a T C 2: 26,320,113 (GRCm39) T1442A probably benign Het
Slc6a14 T A X: 21,600,363 (GRCm39) probably benign Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Tent5c A G 3: 100,380,672 (GRCm39) V28A probably damaging Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Trav13-2 T C 14: 53,872,688 (GRCm39) F55L possibly damaging Het
Tst A T 15: 78,289,661 (GRCm39) S125T probably damaging Het
Ttn T C 2: 76,630,868 (GRCm39) T14179A probably benign Het
Vps37b A G 5: 124,148,850 (GRCm39) Y62H probably damaging Het
Other mutations in Pgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Pgm2 APN 5 64,265,139 (GRCm39) missense probably damaging 0.99
IGL01112:Pgm2 APN 5 64,260,225 (GRCm39) missense possibly damaging 0.86
IGL01634:Pgm2 APN 5 64,258,317 (GRCm39) missense probably benign 0.01
IGL02513:Pgm2 APN 5 64,260,289 (GRCm39) unclassified probably benign
R0255:Pgm2 UTSW 5 64,269,386 (GRCm39) missense possibly damaging 0.93
R0268:Pgm2 UTSW 5 64,263,151 (GRCm39) missense probably damaging 1.00
R0511:Pgm2 UTSW 5 64,267,898 (GRCm39) missense probably damaging 1.00
R0722:Pgm2 UTSW 5 64,265,022 (GRCm39) nonsense probably null
R0881:Pgm2 UTSW 5 64,250,351 (GRCm39) missense unknown
R0924:Pgm2 UTSW 5 64,269,490 (GRCm39) missense possibly damaging 0.90
R0930:Pgm2 UTSW 5 64,269,490 (GRCm39) missense possibly damaging 0.90
R1773:Pgm2 UTSW 5 64,265,194 (GRCm39) critical splice donor site probably null
R1777:Pgm2 UTSW 5 64,285,125 (GRCm39) missense probably benign
R2137:Pgm2 UTSW 5 64,273,709 (GRCm39) missense probably benign
R2244:Pgm2 UTSW 5 64,264,045 (GRCm39) missense probably benign 0.00
R3946:Pgm2 UTSW 5 64,269,404 (GRCm39) missense probably benign
R4301:Pgm2 UTSW 5 64,261,140 (GRCm39) nonsense probably null
R4601:Pgm2 UTSW 5 64,265,070 (GRCm39) missense probably benign 0.02
R4631:Pgm2 UTSW 5 64,263,290 (GRCm39) splice site probably null
R4795:Pgm2 UTSW 5 64,261,217 (GRCm39) missense probably damaging 1.00
R4871:Pgm2 UTSW 5 64,261,237 (GRCm39) missense probably benign
R4893:Pgm2 UTSW 5 64,263,283 (GRCm39) missense probably benign
R4907:Pgm2 UTSW 5 64,261,221 (GRCm39) missense probably benign 0.00
R4915:Pgm2 UTSW 5 64,258,291 (GRCm39) missense probably damaging 1.00
R5092:Pgm2 UTSW 5 64,265,092 (GRCm39) missense possibly damaging 0.49
R5197:Pgm2 UTSW 5 64,263,175 (GRCm39) missense possibly damaging 0.87
R5621:Pgm2 UTSW 5 64,269,381 (GRCm39) nonsense probably null
R6311:Pgm2 UTSW 5 64,273,758 (GRCm39) missense probably benign 0.05
R6651:Pgm2 UTSW 5 64,269,437 (GRCm39) missense probably benign 0.07
R6731:Pgm2 UTSW 5 64,258,318 (GRCm39) missense probably benign 0.27
R6885:Pgm2 UTSW 5 64,261,221 (GRCm39) missense probably benign 0.00
R6919:Pgm2 UTSW 5 64,254,368 (GRCm39) missense probably benign 0.11
R7211:Pgm2 UTSW 5 64,263,193 (GRCm39) missense probably damaging 0.99
R7631:Pgm2 UTSW 5 64,265,522 (GRCm39) missense possibly damaging 0.90
R7982:Pgm2 UTSW 5 64,258,302 (GRCm39) missense probably damaging 1.00
R8070:Pgm2 UTSW 5 64,269,425 (GRCm39) missense probably benign 0.00
R8161:Pgm2 UTSW 5 64,269,503 (GRCm39) missense probably damaging 1.00
R8181:Pgm2 UTSW 5 64,269,467 (GRCm39) missense possibly damaging 0.83
R9110:Pgm2 UTSW 5 64,261,159 (GRCm39) missense probably benign 0.01
R9333:Pgm2 UTSW 5 64,263,100 (GRCm39) missense probably benign
R9580:Pgm2 UTSW 5 64,265,092 (GRCm39) missense possibly damaging 0.49
R9673:Pgm2 UTSW 5 64,273,671 (GRCm39) missense probably damaging 1.00
R9681:Pgm2 UTSW 5 64,254,391 (GRCm39) missense probably benign
Posted On 2012-04-20