Incidental Mutation 'R1475:Pgd'
ID 163990
Institutional Source Beutler Lab
Gene Symbol Pgd
Ensembl Gene ENSMUSG00000028961
Gene Name phosphogluconate dehydrogenase
Synonyms 0610042A05Rik
MMRRC Submission 039528-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149234448-149251162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149241232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 226 (T226A)
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably benign
Transcript: ENSMUST00000084124
AA Change: T226A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961
AA Change: T226A

DomainStartEndE-ValueType
Pfam:NAD_binding_2 3 176 3.2e-52 PFAM
6PGD 180 470 7.75e-219 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156120
Meta Mutation Damage Score 0.1103 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Gaa G A 11: 119,165,142 (GRCm39) probably null Het
Glce T C 9: 61,968,210 (GRCm39) T314A possibly damaging Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Myf5 A G 10: 107,320,515 (GRCm39) V190A probably benign Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8b42 T A 9: 38,342,160 (GRCm39) V194D probably benign Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Syf2 T A 4: 134,662,745 (GRCm39) M145K possibly damaging Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Pgd APN 4 149,241,210 (GRCm39) missense probably damaging 1.00
IGL02480:Pgd APN 4 149,241,075 (GRCm39) missense probably damaging 1.00
IGL03028:Pgd APN 4 149,246,084 (GRCm39) critical splice donor site probably null
IGL03370:Pgd APN 4 149,249,685 (GRCm39) missense probably damaging 1.00
R0398:Pgd UTSW 4 149,238,339 (GRCm39) missense probably damaging 1.00
R0601:Pgd UTSW 4 149,241,267 (GRCm39) splice site probably benign
R0980:Pgd UTSW 4 149,238,768 (GRCm39) splice site probably null
R3826:Pgd UTSW 4 149,250,461 (GRCm39) splice site probably benign
R4531:Pgd UTSW 4 149,241,234 (GRCm39) missense probably benign 0.01
R4832:Pgd UTSW 4 149,241,048 (GRCm39) intron probably benign
R6352:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6353:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6485:Pgd UTSW 4 149,240,876 (GRCm39) splice site probably null
R6514:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6519:Pgd UTSW 4 149,235,343 (GRCm39) nonsense probably null
R6543:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R7153:Pgd UTSW 4 149,246,135 (GRCm39) missense probably benign
R9517:Pgd UTSW 4 149,249,668 (GRCm39) missense possibly damaging 0.61
R9649:Pgd UTSW 4 149,235,596 (GRCm39) missense probably damaging 1.00
Z1176:Pgd UTSW 4 149,251,136 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCCATATTACCAATGAGGGTGACGG -3'
(R):5'- AGCTATGTATGTCCAGTCCCAGGAG -3'

Sequencing Primer
(F):5'- GGATCTTTGGCAACAGCTCTTTG -3'
(R):5'- TGGGAAACTCAACTCACTGG -3'
Posted On 2014-03-28