Incidental Mutation 'R7211:Pgm2'
ID 561058
Institutional Source Beutler Lab
Gene Symbol Pgm2
Ensembl Gene ENSMUSG00000029171
Gene Name phosphoglucomutase 2
Synonyms Pgm-1, 3230402E02Rik, Pgm1
MMRRC Submission 045339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7211 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 64250293-64285694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64263193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 280 (L280P)
Ref Sequence ENSEMBL: ENSMUSP00000084582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087324]
AlphaFold Q7TSV4
Predicted Effect probably damaging
Transcript: ENSMUST00000087324
AA Change: L280P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: L280P

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 probably benign
Transcript: ENSMUST00000199093
Meta Mutation Damage Score 0.6055 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T A 2: 154,887,699 (GRCm39) V53E probably damaging Het
A1cf A G 19: 31,904,541 (GRCm39) Y268C probably benign Het
Adam34l T A 8: 44,078,914 (GRCm39) S437C probably damaging Het
Adamts13 C T 2: 26,879,310 (GRCm39) T621I probably benign Het
Akr1b7 A T 6: 34,398,049 (GRCm39) N293Y probably benign Het
Angpt2 T A 8: 18,791,147 (GRCm39) T50S probably benign Het
Anks1b C A 10: 90,346,932 (GRCm39) A744D possibly damaging Het
Aqr A G 2: 113,965,204 (GRCm39) V587A probably benign Het
Atm A G 9: 53,399,860 (GRCm39) V1540A probably benign Het
Brd10 A G 19: 29,763,712 (GRCm39) F121S Het
C4b A G 17: 34,954,508 (GRCm39) V887A possibly damaging Het
Cd200r1 A G 16: 44,609,120 (GRCm39) T26A probably benign Het
Ciao1 A G 2: 127,088,928 (GRCm39) probably null Het
Clba1 T A 12: 112,774,632 (GRCm39) probably null Het
Clca3a2 A G 3: 144,519,775 (GRCm39) C200R probably benign Het
Col6a5 T A 9: 105,805,363 (GRCm39) Q1181L unknown Het
Copb2 T A 9: 98,456,198 (GRCm39) I244N probably damaging Het
Cpb2 A G 14: 75,512,430 (GRCm39) Y281C probably damaging Het
Disp3 C A 4: 148,325,979 (GRCm39) V1260F probably damaging Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Dpysl2 T C 14: 67,067,425 (GRCm39) N162S probably damaging Het
Dsp T A 13: 38,372,511 (GRCm39) probably null Het
Edc4 T A 8: 106,612,941 (GRCm39) probably null Het
Efcab3 C A 11: 104,601,539 (GRCm39) A284D probably benign Het
Efcab3 G T 11: 104,615,435 (GRCm39) probably null Het
Epm2a T C 10: 11,219,419 (GRCm39) Y69H probably benign Het
Frzb C A 2: 80,248,669 (GRCm39) E262* probably null Het
Gaa T C 11: 119,175,030 (GRCm39) V877A possibly damaging Het
Gpnmb T C 6: 49,028,949 (GRCm39) I489T possibly damaging Het
Gpr31b T C 17: 13,271,104 (GRCm39) T22A probably benign Het
Gys1 T A 7: 45,097,684 (GRCm39) F477Y possibly damaging Het
Hoxc11 A C 15: 102,863,487 (GRCm39) E176A possibly damaging Het
Kcnk13 T A 12: 100,028,076 (GRCm39) F384I probably damaging Het
Ky A G 9: 102,386,349 (GRCm39) E59G probably benign Het
Lama4 T A 10: 38,881,491 (GRCm39) D93E probably damaging Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Lrrc71 G T 3: 87,650,633 (GRCm39) Q210K possibly damaging Het
Map1a G A 2: 121,135,124 (GRCm39) R1980H probably benign Het
Med15 T C 16: 17,515,977 (GRCm39) D15G unknown Het
Mfng A T 15: 78,657,268 (GRCm39) S69T probably benign Het
Muc16 T G 9: 18,409,866 (GRCm39) S181R probably damaging Het
Mug1 A T 6: 121,857,498 (GRCm39) Q1074L possibly damaging Het
Myorg A G 4: 41,498,028 (GRCm39) I534T probably damaging Het
Nbea T A 3: 55,912,322 (GRCm39) N1155I probably benign Het
Nbeal1 T G 1: 60,240,110 (GRCm39) L159V probably damaging Het
Nudt1 C A 5: 140,323,402 (GRCm39) P118Q possibly damaging Het
Or2q1 A T 6: 42,794,950 (GRCm39) T182S probably benign Het
Or8g37 A C 9: 39,731,154 (GRCm39) Q73P possibly damaging Het
Pcdhga6 T A 18: 37,842,173 (GRCm39) V631D probably benign Het
Pcna A C 2: 132,091,792 (GRCm39) V203G probably damaging Het
Pgf G T 12: 85,222,549 (GRCm39) N33K probably benign Het
Plcg1 G A 2: 160,573,794 (GRCm39) A20T probably benign Het
Pou2af2 G T 9: 51,201,733 (GRCm39) Q108K probably damaging Het
Prdx5 G T 19: 6,884,958 (GRCm39) D126E probably damaging Het
Prkag2 T C 5: 25,200,296 (GRCm39) T20A probably benign Het
Prr14l T A 5: 32,987,431 (GRCm39) Q688L probably damaging Het
Pxdn T G 12: 30,034,903 (GRCm39) D253E possibly damaging Het
Rbm18 A T 2: 36,012,905 (GRCm39) C53* probably null Het
Rprm A T 2: 53,975,270 (GRCm39) L16Q probably benign Het
Saysd1 A G 14: 20,127,576 (GRCm39) F116S probably damaging Het
Scg3 A G 9: 75,589,366 (GRCm39) S96P probably benign Het
Scgb1b3 C T 7: 31,075,078 (GRCm39) L16F unknown Het
Sh3tc2 A G 18: 62,122,474 (GRCm39) T412A probably benign Het
Skint6 T C 4: 113,095,566 (GRCm39) N31S probably benign Het
Slc22a2 T C 17: 12,805,770 (GRCm39) probably null Het
Slc8a2 C T 7: 15,874,538 (GRCm39) T262I possibly damaging Het
Smarcc1 A T 9: 109,979,082 (GRCm39) K188N probably damaging Het
Taf6 T C 5: 138,177,088 (GRCm39) T660A possibly damaging Het
Tbx2 C T 11: 85,725,540 (GRCm39) R164C probably damaging Het
Tec T C 5: 72,939,355 (GRCm39) D220G probably null Het
Tfec A T 6: 16,867,464 (GRCm39) W59R probably damaging Het
Tmtc2 G T 10: 105,409,587 (GRCm39) S8R probably benign Het
Tmtc3 A T 10: 100,283,467 (GRCm39) M696K probably benign Het
Trpc3 A T 3: 36,694,882 (GRCm39) S691T possibly damaging Het
Ttf2 A T 3: 100,866,623 (GRCm39) M503K probably benign Het
Ttll7 A G 3: 146,619,031 (GRCm39) H312R probably damaging Het
Ttn T C 2: 76,598,032 (GRCm39) Y19627C probably damaging Het
Ugt2b35 T C 5: 87,149,177 (GRCm39) S143P probably benign Het
Usp53 A G 3: 122,751,299 (GRCm39) S253P probably damaging Het
Utp18 A G 11: 93,776,206 (GRCm39) V93A probably benign Het
Utrn T C 10: 12,277,079 (GRCm39) N3413D possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Pgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Pgm2 APN 5 64,265,612 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTAAGTGCCCCAGTGCATG -3'
(R):5'- ATGCCAAGTCAGAAAGCTCC -3'

Sequencing Primer
(F):5'- CAGTGCATGGTATTTTCTAAACCC -3'
(R):5'- TGCCAAGTCAGAAAGCTCCTTTAAG -3'
Posted On 2019-06-26