Incidental Mutation 'R2244:Pgam2'
ID 240607
Institutional Source Beutler Lab
Gene Symbol Pgam2
Ensembl Gene ENSMUSG00000020475
Gene Name phosphoglycerate mutase 2
Synonyms
MMRRC Submission 040244-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R2244 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5751640-5753733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5751723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000020768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020768] [ENSMUST00000020769] [ENSMUST00000102928] [ENSMUST00000109845]
AlphaFold O70250
Predicted Effect probably benign
Transcript: ENSMUST00000020768
AA Change: T238A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020768
Gene: ENSMUSG00000020475
AA Change: T238A

DomainStartEndE-ValueType
PGAM 5 193 8.71e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020769
SMART Domains Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
SH3 380 436 1.62e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102928
SMART Domains Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
SH3 377 433 1.62e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109845
SMART Domains Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
SH3 376 432 1.62e-16 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A G 7: 132,484,940 (GRCm39) T328A probably benign Het
Aen T C 7: 78,557,045 (GRCm39) Y156H probably damaging Het
Aip T C 19: 4,164,796 (GRCm39) D263G probably benign Het
Car1 T A 3: 14,835,912 (GRCm39) I70F possibly damaging Het
Cc2d2a T A 5: 43,889,775 (GRCm39) F1357Y probably damaging Het
Cit A G 5: 116,064,564 (GRCm39) E482G probably damaging Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Fbxw24 T C 9: 109,434,117 (GRCm39) T398A possibly damaging Het
Fpr3 T C 17: 18,191,449 (GRCm39) F240S probably benign Het
Herc6 A T 6: 57,575,602 (GRCm39) R208* probably null Het
Itsn1 A G 16: 91,650,659 (GRCm39) N928S probably null Het
Ly75 T C 2: 60,180,257 (GRCm39) D640G probably benign Het
Mfsd4a T A 1: 131,956,243 (GRCm39) E507V probably benign Het
Nyap1 T C 5: 137,733,576 (GRCm39) T486A probably damaging Het
Or11g2 G A 14: 50,856,114 (GRCm39) C145Y probably damaging Het
Pgm2 A G 5: 64,264,045 (GRCm39) D343G probably benign Het
Rbpjl G T 2: 164,245,137 (GRCm39) probably benign Het
Rhobtb2 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 14: 70,024,976 (GRCm39) probably benign Het
Selp G T 1: 163,964,855 (GRCm39) E506* probably null Het
Sgo2a T C 1: 58,056,213 (GRCm39) I799T probably benign Het
Slc45a2 A G 15: 11,003,087 (GRCm39) T187A probably benign Het
Tenm2 A T 11: 36,755,689 (GRCm39) L103H probably damaging Het
Thbs2 A G 17: 14,891,675 (GRCm39) I954T probably damaging Het
Usp20 T C 2: 30,900,343 (GRCm39) S286P possibly damaging Het
Other mutations in Pgam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Pgam2 APN 11 5,753,442 (GRCm39) missense probably damaging 1.00
BB002:Pgam2 UTSW 11 5,753,007 (GRCm39) missense possibly damaging 0.91
BB012:Pgam2 UTSW 11 5,753,007 (GRCm39) missense possibly damaging 0.91
R1557:Pgam2 UTSW 11 5,751,773 (GRCm39) missense possibly damaging 0.82
R2240:Pgam2 UTSW 11 5,753,265 (GRCm39) unclassified probably benign
R5810:Pgam2 UTSW 11 5,753,417 (GRCm39) missense possibly damaging 0.77
R7229:Pgam2 UTSW 11 5,753,013 (GRCm39) missense probably damaging 1.00
R7654:Pgam2 UTSW 11 5,753,351 (GRCm39) missense probably null 0.07
R7925:Pgam2 UTSW 11 5,753,007 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TTCTGCCTCTACATGGTGGC -3'
(R):5'- TTAACTGGCAGTACCACGAGC -3'

Sequencing Primer
(F):5'- GATAGCTGTAACCCTGGACCTAG -3'
(R):5'- CCCACAAAGGCCATTCTGC -3'
Posted On 2014-10-15