Incidental Mutation 'R4563:G6pd2'
ID 343191
Institutional Source Beutler Lab
Gene Symbol G6pd2
Ensembl Gene ENSMUSG00000089992
Gene Name glucose-6-phosphate dehydrogenase 2
Synonyms G6pdx-ps1, Gpd-2, Gpd2
MMRRC Submission 041788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4563 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 61966186-61967820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61967686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 487 (R487H)
Ref Sequence ENSEMBL: ENSMUSP00000131163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053876]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000053876
AA Change: R487H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: R487H

DomainStartEndE-ValueType
Pfam:G6PD_N 35 210 4.1e-60 PFAM
Pfam:G6PD_C 212 504 9.9e-119 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mcm3 G T 1: 20,879,869 (GRCm39) R543S probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Pafah1b2 T C 9: 45,887,404 (GRCm39) K36E probably damaging Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Ube4b A G 4: 149,443,622 (GRCm39) probably benign Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A probably damaging Het
Other mutations in G6pd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:G6pd2 APN 5 61,967,406 (GRCm39) missense probably benign
IGL01329:G6pd2 APN 5 61,967,281 (GRCm39) missense probably damaging 1.00
IGL02072:G6pd2 APN 5 61,966,753 (GRCm39) missense probably damaging 1.00
IGL02502:G6pd2 APN 5 61,966,971 (GRCm39) missense probably damaging 1.00
IGL02800:G6pd2 APN 5 61,966,735 (GRCm39) missense probably damaging 1.00
IGL03012:G6pd2 APN 5 61,966,816 (GRCm39) missense probably damaging 1.00
IGL03085:G6pd2 APN 5 61,967,645 (GRCm39) missense probably benign
R0505:G6pd2 UTSW 5 61,966,910 (GRCm39) missense probably benign
R0632:G6pd2 UTSW 5 61,967,514 (GRCm39) missense probably benign
R0658:G6pd2 UTSW 5 61,967,017 (GRCm39) missense probably damaging 1.00
R1399:G6pd2 UTSW 5 61,967,361 (GRCm39) missense probably benign 0.02
R1918:G6pd2 UTSW 5 61,967,664 (GRCm39) missense probably benign
R2077:G6pd2 UTSW 5 61,967,594 (GRCm39) missense probably damaging 0.97
R2338:G6pd2 UTSW 5 61,967,351 (GRCm39) missense probably benign
R2566:G6pd2 UTSW 5 61,966,330 (GRCm39) missense probably damaging 1.00
R2918:G6pd2 UTSW 5 61,966,869 (GRCm39) missense probably damaging 1.00
R3963:G6pd2 UTSW 5 61,966,228 (GRCm39) start codon destroyed probably null 0.50
R4399:G6pd2 UTSW 5 61,967,516 (GRCm39) missense probably benign 0.01
R4469:G6pd2 UTSW 5 61,966,288 (GRCm39) missense probably benign
R4560:G6pd2 UTSW 5 61,967,686 (GRCm39) missense possibly damaging 0.95
R4914:G6pd2 UTSW 5 61,967,672 (GRCm39) nonsense probably null
R5106:G6pd2 UTSW 5 61,967,695 (GRCm39) missense probably benign
R5242:G6pd2 UTSW 5 61,966,785 (GRCm39) missense probably benign 0.00
R5838:G6pd2 UTSW 5 61,966,568 (GRCm39) missense probably benign
R6131:G6pd2 UTSW 5 61,966,593 (GRCm39) missense probably benign 0.03
R6200:G6pd2 UTSW 5 61,967,214 (GRCm39) missense probably benign 0.00
R7009:G6pd2 UTSW 5 61,966,234 (GRCm39) missense probably benign 0.00
R7337:G6pd2 UTSW 5 61,967,562 (GRCm39) missense probably benign 0.13
R9694:G6pd2 UTSW 5 61,966,460 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAGCTGGACCTAACTTATGGC -3'
(R):5'- AAAGTCCTTCCAATATGGGGTC -3'

Sequencing Primer
(F):5'- AAATACAAGAATGTGAAGCTCCCTG -3'
(R):5'- GTCCTTCCAATATGGGGTCAATAGTC -3'
Posted On 2015-09-24