Incidental Mutation 'R3011:Nqo1'
ID 257509
Institutional Source Beutler Lab
Gene Symbol Nqo1
Ensembl Gene ENSMUSG00000003849
Gene Name NAD(P)H dehydrogenase, quinone 1
Synonyms NAD(P)H dehydrogenase (quinone), Nmor1, Ox1, Dia4, NMO1, Ox-1, NQO1, QR1
MMRRC Submission 040533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R3011 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108114857-108129838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108115743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 178 (R178H)
Ref Sequence ENSEMBL: ENSMUSP00000003947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003947]
AlphaFold Q64669
PDB Structure CRYSTAL STRUCTURE OF MOUSE NAD[P]H-QUINONE OXIDOREDUCTASE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000003947
AA Change: R178H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849
AA Change: R178H

DomainStartEndE-ValueType
Pfam:FMN_red 4 174 6e-11 PFAM
Pfam:Flavodoxin_2 4 212 9.7e-52 PFAM
low complexity region 240 251 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null mice display increased toxicity to menadione, insulin resistance, an altered intracellular redox status, as well as decreased pyridine nucleotide synthesis, gluconeogenesis and fatty acid metabolism, leading to reduced quantities of abdominal adipose tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A C 16: 38,422,269 (GRCm39) C1266G possibly damaging Het
Brme1 C A 8: 84,893,539 (GRCm39) Y235* probably null Het
Cers5 A G 15: 99,670,598 (GRCm39) probably benign Het
Clasp2 C T 9: 113,730,581 (GRCm39) T905M probably damaging Het
Clec16a A G 16: 10,428,975 (GRCm39) N469S probably benign Het
Commd3 T A 2: 18,679,499 (GRCm39) V128D probably damaging Het
Cped1 A G 6: 22,088,695 (GRCm39) T253A probably damaging Het
Dnajc5b A T 3: 19,600,966 (GRCm39) Y21F probably damaging Het
Fhip2a T A 19: 57,373,720 (GRCm39) L660Q probably damaging Het
Gm14403 A G 2: 177,200,786 (GRCm39) D244G probably benign Het
Gm5414 T C 15: 101,534,047 (GRCm39) D312G probably damaging Het
Ifi204 T C 1: 173,579,217 (GRCm39) S543G probably benign Het
Itga11 T A 9: 62,604,262 (GRCm39) I50N probably damaging Het
Lct C T 1: 128,229,109 (GRCm39) V795I possibly damaging Het
Lrrc37 T A 11: 103,503,929 (GRCm39) T504S possibly damaging Het
Map2 A G 1: 66,453,771 (GRCm39) D887G probably damaging Het
Mgat4e T A 1: 134,469,846 (GRCm39) D66V possibly damaging Het
Or13e8 G T 4: 43,696,624 (GRCm39) A183E probably damaging Het
Or5h22 A G 16: 58,895,350 (GRCm39) V31A probably benign Het
Otof G A 5: 30,540,184 (GRCm39) A999V probably damaging Het
Phf20 A G 2: 156,129,946 (GRCm39) D506G probably benign Het
Pth2r C T 1: 65,376,147 (GRCm39) H97Y probably benign Het
Snx18 G A 13: 113,753,422 (GRCm39) Q504* probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Srgap2 T A 1: 131,238,329 (GRCm39) Q520L probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tlr4 A T 4: 66,757,491 (GRCm39) K95* probably null Het
Tmem59l A T 8: 70,938,887 (GRCm39) C96S probably damaging Het
Tmtc3 G T 10: 100,283,444 (GRCm39) P704T possibly damaging Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vps72 A G 3: 95,026,585 (GRCm39) K177E probably damaging Het
Other mutations in Nqo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Nqo1 APN 8 108,115,587 (GRCm39) missense probably benign 0.21
IGL02711:Nqo1 APN 8 108,119,563 (GRCm39) missense probably damaging 1.00
R2289:Nqo1 UTSW 8 108,119,630 (GRCm39) missense probably benign 0.42
R4419:Nqo1 UTSW 8 108,118,749 (GRCm39) splice site probably null
R4420:Nqo1 UTSW 8 108,118,749 (GRCm39) splice site probably null
R4659:Nqo1 UTSW 8 108,117,676 (GRCm39) critical splice donor site probably null
R4832:Nqo1 UTSW 8 108,115,477 (GRCm39) missense probably benign 0.27
R4955:Nqo1 UTSW 8 108,115,489 (GRCm39) missense probably benign
R6018:Nqo1 UTSW 8 108,115,500 (GRCm39) missense probably damaging 1.00
R6320:Nqo1 UTSW 8 108,115,582 (GRCm39) missense probably benign 0.00
R7184:Nqo1 UTSW 8 108,119,279 (GRCm39) missense probably damaging 1.00
R7301:Nqo1 UTSW 8 108,119,280 (GRCm39) missense probably damaging 1.00
R7473:Nqo1 UTSW 8 108,129,729 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CCTGCCTGAAAGTTTAGGTCAAAC -3'
(R):5'- ACCAATGCATCTCTCAAGCTG -3'

Sequencing Primer
(F):5'- TCAAACAGGCTGCTTGGAGC -3'
(R):5'- TCCAATCCCTTAGAACTGGAGTG -3'
Posted On 2015-01-11