Incidental Mutation 'R4955:Nqo1'
ID 381532
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 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108114857-108129838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108115489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 263 (S263P)
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: S263P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849
AA Change: S263P

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 0.0595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A 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
R3011:Nqo1 UTSW 8 108,115,743 (GRCm39) missense probably benign
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
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'- TGAGGCTCCTAATCTGACTTCATTC -3'
(R):5'- TACAGCATTGGCCACACTCC -3'

Sequencing Primer
(F):5'- CATTCATTTTGTTGTTATGGCAGAAC -3'
(R):5'- AGATGCCCGCATGCAGATC -3'
Posted On 2016-04-27