Incidental Mutation 'R6131:G6pd2'
ID 487124
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 044278-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 61966186-61967820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61966593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 123 (S123C)
Ref Sequence ENSEMBL: ENSMUSP00000131163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053876]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053876
AA Change: S123C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: S123C

DomainStartEndE-ValueType
Pfam:G6PD_N 35 210 4.1e-60 PFAM
Pfam:G6PD_C 212 504 9.9e-119 PFAM
Meta Mutation Damage Score 0.0708 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V 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
R4563: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
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'- CAAAGAAACCTTCATTGTGGGC -3'
(R):5'- TCTGGTCTTCACGGAAAAGAG -3'

Sequencing Primer
(F):5'- AGAAACCTTCATTGTGGGCTATGC -3'
(R):5'- ACAATTGATTGGAGCTCTGCAG -3'
Posted On 2017-10-10