Incidental Mutation 'R7230:Bpgm'
ID 562416
Institutional Source Beutler Lab
Gene Symbol Bpgm
Ensembl Gene ENSMUSG00000038871
Gene Name 2,3-bisphosphoglycerate mutase
Synonyms
MMRRC Submission 045302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7230 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 34453291-34482071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34464502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 73 (E73G)
Ref Sequence ENSEMBL: ENSMUSP00000047393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045372] [ENSMUST00000138668] [ENSMUST00000139067] [ENSMUST00000149131]
AlphaFold P15327
Predicted Effect possibly damaging
Transcript: ENSMUST00000045372
AA Change: E73G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047393
Gene: ENSMUSG00000038871
AA Change: E73G

DomainStartEndE-ValueType
PGAM 5 195 3.23e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000138668
AA Change: E73G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115825
Gene: ENSMUSG00000038871
AA Change: E73G

DomainStartEndE-ValueType
PGAM 5 96 2.93e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000139067
AA Change: E73G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120794
Gene: ENSMUSG00000038871
AA Change: E73G

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149131
AA Change: E73G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121818
Gene: ENSMUSG00000038871
AA Change: E73G

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A C 7: 45,766,812 (GRCm39) D989E probably benign Het
Adad1 A G 3: 37,119,315 (GRCm39) Y132C probably damaging Het
Adam33 A T 2: 130,895,483 (GRCm39) C579S probably damaging Het
Adam6a A C 12: 113,509,202 (GRCm39) Q525P probably damaging Het
Alpk3 C T 7: 80,743,042 (GRCm39) P953L probably damaging Het
Arb2a G A 13: 77,907,591 (GRCm39) E5K probably damaging Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Cab39 T A 1: 85,775,880 (GRCm39) probably null Het
Ccdc162 A G 10: 41,554,809 (GRCm39) L285P probably damaging Het
Ccdc30 T C 4: 119,196,979 (GRCm39) E429G possibly damaging Het
Cct3 C T 3: 88,220,567 (GRCm39) R260W probably damaging Het
Chd1 C A 17: 15,927,199 (GRCm39) probably null Het
Cxcr4 T G 1: 128,517,527 (GRCm39) T45P probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dlec1 T G 9: 118,953,606 (GRCm39) probably null Het
Dram2 T G 3: 106,480,294 (GRCm39) Y202* probably null Het
Etl4 C A 2: 20,802,799 (GRCm39) T1035K probably damaging Het
F5 T C 1: 164,012,522 (GRCm39) F479L probably benign Het
Frrs1l C A 4: 56,972,372 (GRCm39) G110W probably damaging Het
Gpbp1l1 T A 4: 116,445,807 (GRCm39) I303N probably damaging Het
Grik5 A G 7: 24,722,495 (GRCm39) F538S probably damaging Het
Hgsnat C A 8: 26,444,860 (GRCm39) probably null Het
Hs2st1 T C 3: 144,140,307 (GRCm39) D338G probably benign Het
Impdh1 T C 6: 29,206,062 (GRCm39) probably null Het
Ipo9 T C 1: 135,334,496 (GRCm39) probably benign Het
Kdm4b T G 17: 56,676,155 (GRCm39) L220R probably damaging Het
Map1a T A 2: 121,131,299 (GRCm39) F705Y probably damaging Het
Med22 C T 2: 26,798,223 (GRCm39) D99N probably benign Het
Muc6 T C 7: 141,235,479 (GRCm39) Y519C probably damaging Het
Myt1l A G 12: 29,833,873 (GRCm39) I25M probably damaging Het
Ncam1 T A 9: 49,421,123 (GRCm39) I731F probably benign Het
Nlrp4f T A 13: 65,342,715 (GRCm39) H310L probably benign Het
Or2ag1b A T 7: 106,288,731 (GRCm39) M69K possibly damaging Het
Or2ag2b C A 7: 106,417,386 (GRCm39) T32K possibly damaging Het
Or4f14 T A 2: 111,742,906 (GRCm39) Y123F probably damaging Het
Or4k40 A T 2: 111,251,261 (GRCm39) F12I probably damaging Het
Prl8a6 T A 13: 27,617,021 (GRCm39) Y223F probably benign Het
Prss39 A G 1: 34,541,228 (GRCm39) D244G probably damaging Het
Ptx4 A T 17: 25,342,077 (GRCm39) Q184L possibly damaging Het
Slc26a1 A T 5: 108,819,611 (GRCm39) D545E probably damaging Het
Slc7a12 T C 3: 14,570,441 (GRCm39) S398P probably damaging Het
Slc9a4 T C 1: 40,639,931 (GRCm39) V241A probably damaging Het
Snw1 T C 12: 87,511,324 (GRCm39) D109G probably damaging Het
Syne2 T A 12: 75,980,674 (GRCm39) I1477K probably benign Het
Timd4 A T 11: 46,701,691 (GRCm39) Y18F probably benign Het
Tmprss2 A G 16: 97,379,797 (GRCm39) Y168H probably benign Het
Ttn A T 2: 76,569,044 (GRCm39) I27283K probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vasn C T 16: 4,467,486 (GRCm39) R478C probably benign Het
Zfp58 A T 13: 67,640,082 (GRCm39) C136* 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
R5932:Bpgm UTSW 6 34,464,860 (GRCm39) missense probably damaging 1.00
R7531:Bpgm UTSW 6 34,481,223 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ATCCCATTGAGAACCCCAGG -3'
(R):5'- TCCGGTCACTGTAGATCTCG -3'

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