Incidental Mutation 'R5932:Bpgm'
ID 461921
Institutional Source Beutler Lab
Gene Symbol Bpgm
Ensembl Gene ENSMUSG00000038871
Gene Name 2,3-bisphosphoglycerate mutase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5932 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 34453291-34482071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34464860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 192 (S192R)
Ref Sequence ENSEMBL: ENSMUSP00000047393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045372] [ENSMUST00000138668] [ENSMUST00000139067] [ENSMUST00000149131]
AlphaFold P15327
Predicted Effect probably damaging
Transcript: ENSMUST00000045372
AA Change: S192R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047393
Gene: ENSMUSG00000038871
AA Change: S192R

DomainStartEndE-ValueType
PGAM 5 195 3.23e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135743
Predicted Effect probably benign
Transcript: ENSMUST00000138668
SMART Domains Protein: ENSMUSP00000115825
Gene: ENSMUSG00000038871

DomainStartEndE-ValueType
PGAM 5 96 2.93e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139067
SMART Domains Protein: ENSMUSP00000120794
Gene: ENSMUSG00000038871

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149131
SMART Domains Protein: ENSMUSP00000121818
Gene: ENSMUSG00000038871

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,870,518 (GRCm39) S7T possibly damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Akap1 A G 11: 88,722,585 (GRCm39) L890P probably damaging Het
Akap13 T A 7: 75,259,932 (GRCm39) M49K probably damaging Het
Ankrd17 A T 5: 90,413,295 (GRCm39) N1206K probably damaging Het
Bbs7 G A 3: 36,636,847 (GRCm39) T480I probably benign Het
Bbs9 A G 9: 22,723,627 (GRCm39) E769G probably damaging Het
Brinp1 C A 4: 68,711,178 (GRCm39) K343N probably benign Het
Cabyr T G 18: 12,887,407 (GRCm39) V185G probably damaging Het
Cadm1 C A 9: 47,710,749 (GRCm39) D217E probably damaging Het
Camk1g T A 1: 193,036,347 (GRCm39) E171V probably benign Het
Casz1 T A 4: 149,023,570 (GRCm39) M825K possibly damaging Het
Ccdc27 A G 4: 154,111,231 (GRCm39) V627A probably benign Het
Ccdc40 T G 11: 119,141,838 (GRCm39) I808R probably damaging Het
Cdh23 G A 10: 60,228,763 (GRCm39) R1140C probably damaging Het
Celsr1 A G 15: 85,916,905 (GRCm39) V356A probably damaging Het
Cep126 T A 9: 8,103,509 (GRCm39) D167V probably damaging Het
Chmp4b C T 2: 154,533,201 (GRCm39) T147I probably benign Het
Clstn3 A T 6: 124,415,291 (GRCm39) M728K probably benign Het
Col7a1 A T 9: 108,809,279 (GRCm39) E2618V unknown Het
Cplane1 T A 15: 8,274,079 (GRCm39) probably null Het
Crls1 T A 2: 132,706,087 (GRCm39) Y170* probably null Het
Dennd2b G A 7: 109,169,223 (GRCm39) T24M probably damaging Het
Epas1 T G 17: 87,135,074 (GRCm39) I569S possibly damaging Het
Fhl3 T C 4: 124,599,520 (GRCm39) Y32H probably damaging Het
Fibp G A 19: 5,514,453 (GRCm39) G333D probably benign Het
Frmd4a C T 2: 4,534,650 (GRCm39) T156I probably damaging Het
Gcn1 T C 5: 115,730,435 (GRCm39) L873P possibly damaging Het
Gpr141b C A 13: 19,913,646 (GRCm39) noncoding transcript Het
Hectd3 G A 4: 116,859,470 (GRCm39) R698H possibly damaging Het
Il17a T C 1: 20,803,977 (GRCm39) V124A probably damaging Het
Kif14 A T 1: 136,444,128 (GRCm39) E1373D probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Kmt2a T C 9: 44,731,944 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Lamb2 T C 9: 108,357,810 (GRCm39) I111T probably damaging Het
Lrch3 A T 16: 32,796,106 (GRCm39) D204V probably damaging Het
Mansc1 C A 6: 134,587,478 (GRCm39) R233L possibly damaging Het
Mkrn3 A G 7: 62,068,655 (GRCm39) C379R probably damaging Het
Ncoa3 T A 2: 165,912,045 (GRCm39) probably null Het
Neu3 A T 7: 99,462,525 (GRCm39) C399* probably null Het
Or10ad1 T G 15: 98,105,296 (GRCm39) *323S probably null Het
Or52e8 G A 7: 104,624,862 (GRCm39) T114M probably damaging Het
Pcare T C 17: 72,058,748 (GRCm39) R310G probably damaging Het
Pde5a T C 3: 122,634,693 (GRCm39) F713L probably benign Het
Pdk1 T A 2: 71,713,760 (GRCm39) probably null Het
Plin4 A G 17: 56,413,356 (GRCm39) V423A possibly damaging Het
Pstpip1 T A 9: 56,033,214 (GRCm39) Y249N probably damaging Het
Ptprf A T 4: 118,068,964 (GRCm39) C1673S probably benign Het
Pum1 A G 4: 130,457,677 (GRCm39) T230A probably benign Het
Qsox1 A T 1: 155,665,079 (GRCm39) D287E probably benign Het
Rad51ap2 A G 12: 11,508,387 (GRCm39) N770D probably damaging Het
Rtp3 T A 9: 110,815,760 (GRCm39) I202F probably benign Het
Slc26a4 C T 12: 31,585,248 (GRCm39) probably null Het
Spmip7 A G 11: 11,438,513 (GRCm39) probably benign Het
Sptbn1 C G 11: 30,086,136 (GRCm39) V1191L probably damaging Het
Tead2 T C 7: 44,882,323 (GRCm39) Y121H probably benign Het
Thsd7b T C 1: 129,358,575 (GRCm39) L3P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Usp2 A G 9: 44,003,630 (GRCm39) I481V probably benign Het
Vps13d C A 4: 144,771,611 (GRCm39) V4056F possibly damaging Het
Yeats2 A G 16: 20,011,913 (GRCm39) E496G probably benign Het
Zap70 A G 1: 36,820,227 (GRCm39) K503E probably damaging Het
Zbtb46 A G 2: 181,053,713 (GRCm39) L333P probably benign Het
Zfc3h1 A T 10: 115,236,815 (GRCm39) T430S probably benign Het
Zfp618 C T 4: 63,036,803 (GRCm39) R368* probably null Het
Other mutations in Bpgm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Bpgm APN 6 34,464,399 (GRCm39) missense probably damaging 1.00
IGL02673:Bpgm APN 6 34,464,769 (GRCm39) missense probably damaging 0.99
R0610:Bpgm UTSW 6 34,481,284 (GRCm39) missense possibly damaging 0.46
R0636:Bpgm UTSW 6 34,481,222 (GRCm39) missense probably benign
R1848:Bpgm UTSW 6 34,464,669 (GRCm39) missense probably benign 0.01
R7230:Bpgm UTSW 6 34,464,502 (GRCm39) missense possibly damaging 0.92
R7531:Bpgm UTSW 6 34,481,223 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACGAGATCTACAGTGACCGGAG -3'
(R):5'- CGCATGTGTCTGAAAGCCTC -3'

Sequencing Primer
(F):5'- GGTACAAAGTGTGCGATGTGCC -3'
(R):5'- CAGGAGTTCTGGTTTCTAGAACAATG -3'
Posted On 2017-02-28