Incidental Mutation 'R9211:Nqo2'
ID 698895
Institutional Source Beutler Lab
Gene Symbol Nqo2
Ensembl Gene ENSMUSG00000046949
Gene Name N-ribosyldihydronicotinamide quinone reductase 2
Synonyms Ox-2, Ox2, Nmor2, NRH: quinone oxidoreductase
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R9211 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34148670-34172426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34156399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 38 (T38S)
Ref Sequence ENSEMBL: ENSMUSP00000021843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021843] [ENSMUST00000058978] [ENSMUST00000076532] [ENSMUST00000166354] [ENSMUST00000167237] [ENSMUST00000168400] [ENSMUST00000171034] [ENSMUST00000220844] [ENSMUST00000222740] [ENSMUST00000223479]
AlphaFold Q9JI75
Predicted Effect probably benign
Transcript: ENSMUST00000021843
AA Change: T38S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021843
Gene: ENSMUSG00000046949
AA Change: T38S

DomainStartEndE-ValueType
Pfam:FMN_red 4 159 5.6e-15 PFAM
Pfam:Flavodoxin_2 4 212 3.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058978
AA Change: T38S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000053809
Gene: ENSMUSG00000046949
AA Change: T38S

DomainStartEndE-ValueType
Pfam:FMN_red 4 158 2e-14 PFAM
Pfam:Flavodoxin_2 4 212 2.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076532
SMART Domains Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166354
SMART Domains Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
Pfam:Serpin 6 66 3.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167237
Predicted Effect probably benign
Transcript: ENSMUST00000168400
SMART Domains Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
Pfam:Serpin 6 120 3.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171034
SMART Domains Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 228 3.54e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220844
Predicted Effect probably benign
Transcript: ENSMUST00000222740
AA Change: T38S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000223479
AA Change: T38S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (86/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygouse for disruptions in this gene have an essentially normal phenotype but with abnormalities in WBC counts and increased susceptibility to chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,099,161 (GRCm39) D85Y possibly damaging Het
Accs T C 2: 93,668,614 (GRCm39) R315G probably damaging Het
Adam3 A C 8: 25,177,910 (GRCm39) W668G probably benign Het
Adgrb2 T A 4: 129,886,199 (GRCm39) V113E probably benign Het
Anapc4 C T 5: 53,007,994 (GRCm39) T391I possibly damaging Het
Angpt2 C T 8: 18,748,078 (GRCm39) G394D probably benign Het
Ankrd31 C G 13: 97,029,551 (GRCm39) L1662V possibly damaging Het
Ankrd36 A G 11: 5,612,370 (GRCm39) D1234G possibly damaging Het
Ankrd6 C T 4: 32,806,580 (GRCm39) V558M probably damaging Het
Ankrd61 T A 5: 143,828,358 (GRCm39) M206L probably benign Het
Arhgap33 C T 7: 30,223,023 (GRCm39) G970R possibly damaging Het
Atf7 A G 15: 102,437,117 (GRCm39) V115A unknown Het
Atp2c2 A T 8: 120,446,032 (GRCm39) R65S probably benign Het
Atp8b5 T A 4: 43,367,960 (GRCm39) M861K probably damaging Het
Bmi1 T C 2: 18,689,152 (GRCm39) S279P probably benign Het
Bptf T G 11: 106,946,124 (GRCm39) S2372R probably damaging Het
Cacnb2 A T 2: 14,879,308 (GRCm39) I15L unknown Het
Card11 A G 5: 140,869,375 (GRCm39) M807T probably benign Het
Ccdc175 A T 12: 72,153,458 (GRCm39) D704E probably damaging Het
Cd300ld T A 11: 114,878,386 (GRCm39) Y42F probably damaging Het
Cdh1 A T 8: 107,390,962 (GRCm39) T693S probably benign Het
Clca4b T C 3: 144,638,214 (GRCm39) Y16C possibly damaging Het
Col4a4 A G 1: 82,506,501 (GRCm39) I273T unknown Het
Coro2b C A 9: 62,427,662 (GRCm39) V9L probably benign Het
Crnkl1 T C 2: 145,774,773 (GRCm39) D55G probably damaging Het
Dcps T A 9: 35,035,872 (GRCm39) N338I probably damaging Het
Dusp2 A T 2: 127,179,311 (GRCm39) H222L probably benign Het
Dync1li1 C A 9: 114,518,012 (GRCm39) Y21* probably null Het
Efhb T G 17: 53,756,507 (GRCm39) Q381H probably damaging Het
Elac2 A T 11: 64,869,864 (GRCm39) probably benign Het
Etaa1 A G 11: 17,896,053 (GRCm39) V688A possibly damaging Het
Fam120c C T X: 150,127,495 (GRCm39) H84Y probably benign Het
Fbxl7 T A 15: 26,789,616 (GRCm39) N37I probably damaging Het
Fndc3b A T 3: 27,523,086 (GRCm39) W498R probably damaging Het
Galc G A 12: 98,173,699 (GRCm39) A621V probably benign Het
Gch1 A T 14: 47,426,519 (GRCm39) I69N probably damaging Het
Gdpd4 T C 7: 97,615,466 (GRCm39) V97A possibly damaging Het
Hirip3 C T 7: 126,463,567 (GRCm39) R485* probably null Het
Hmgcs2 C T 3: 98,204,748 (GRCm39) T302I possibly damaging Het
Ing5 A T 1: 93,740,409 (GRCm39) K137I possibly damaging Het
Kcnh8 T A 17: 53,146,236 (GRCm39) Y375N probably damaging Het
Kdm3a C A 6: 71,573,674 (GRCm39) W963L probably benign Het
Klra17 T G 6: 129,842,651 (GRCm39) I216L possibly damaging Het
Kmt2e A G 5: 23,669,770 (GRCm39) K86E possibly damaging Het
Krt42 T C 11: 100,155,867 (GRCm39) N293S possibly damaging Het
Lrrc8d T A 5: 105,960,216 (GRCm39) W209R probably damaging Het
Mettl23 C T 11: 116,734,469 (GRCm39) P13S unknown Het
Ncln T C 10: 81,323,527 (GRCm39) Y540C probably damaging Het
Neb C G 2: 52,135,360 (GRCm39) G3250A probably damaging Het
Nebl A G 2: 17,393,501 (GRCm39) probably null Het
Obscn A T 11: 59,026,693 (GRCm39) I170N probably benign Het
Or2bd2 G T 7: 6,443,417 (GRCm39) G173W probably damaging Het
Or4c100 A G 2: 88,356,170 (GRCm39) D81G probably benign Het
Or5af2 A T 11: 58,708,709 (GRCm39) N292Y probably damaging Het
Or5p6 C T 7: 107,630,798 (GRCm39) V251I probably damaging Het
Or7g28 T A 9: 19,271,824 (GRCm39) I276F possibly damaging Het
Or8k38 A T 2: 86,488,024 (GRCm39) Y259* probably null Het
Pacs1 A T 19: 5,189,057 (GRCm39) V775E probably damaging Het
Pheta2 A T 15: 82,225,227 (GRCm39) probably benign Het
Pmfbp1 T C 8: 110,262,445 (GRCm39) I713T probably benign Het
Pnma8b A G 7: 16,679,589 (GRCm39) D191G unknown Het
Polr1a T C 6: 71,943,521 (GRCm39) I1252T probably damaging Het
Prss16 A T 13: 22,192,754 (GRCm39) M110K probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Rab5b C A 10: 128,519,063 (GRCm39) probably null Het
Reln G T 5: 22,549,200 (GRCm39) Y69* probably null Het
Rgs12 T A 5: 35,123,165 (GRCm39) M316K probably damaging Het
Rmi2 T C 16: 10,657,743 (GRCm39) C118R possibly damaging Het
Rnf223 T A 4: 156,216,834 (GRCm39) C70S probably damaging Het
Rxrb T A 17: 34,255,626 (GRCm39) F371Y probably damaging Het
Smurf2 T A 11: 106,759,463 (GRCm39) S78C probably damaging Het
Sorbs1 A T 19: 40,332,798 (GRCm39) probably null Het
Spag17 C T 3: 100,032,614 (GRCm39) probably benign Het
Spidr T C 16: 15,871,319 (GRCm39) H217R probably benign Het
Tiam2 T G 17: 3,498,729 (GRCm39) V835G possibly damaging Het
Tm2d2 C T 8: 25,510,548 (GRCm39) R136* probably null Het
Tnks C T 8: 35,316,489 (GRCm39) D877N probably damaging Het
Tns1 A G 1: 73,956,948 (GRCm39) L491P possibly damaging Het
Trps1 A G 15: 50,694,840 (GRCm39) I485T probably damaging Het
Tubgcp5 A G 7: 55,456,331 (GRCm39) S308G probably benign Het
Ugt8a T C 3: 125,661,130 (GRCm39) H454R probably damaging Het
Usp32 G T 11: 84,913,559 (GRCm39) T924K probably damaging Het
Vmn2r91 A T 17: 18,356,819 (GRCm39) K829* probably null Het
Zfc3h1 T C 10: 115,248,328 (GRCm39) F1146L possibly damaging Het
Zfp729a G T 13: 67,767,820 (GRCm39) A803E probably benign Het
Zfp990 A G 4: 145,264,171 (GRCm39) T390A probably damaging Het
Other mutations in Nqo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Nqo2 APN 13 34,169,326 (GRCm39) nonsense probably null
IGL02884:Nqo2 APN 13 34,156,344 (GRCm39) missense probably damaging 1.00
R0021:Nqo2 UTSW 13 34,165,490 (GRCm39) missense probably benign
R0021:Nqo2 UTSW 13 34,165,490 (GRCm39) missense probably benign
R0848:Nqo2 UTSW 13 34,156,461 (GRCm39) critical splice donor site probably null
R0853:Nqo2 UTSW 13 34,163,560 (GRCm39) missense probably benign
R3417:Nqo2 UTSW 13 34,163,616 (GRCm39) missense probably benign 0.01
R4110:Nqo2 UTSW 13 34,163,620 (GRCm39) missense probably benign 0.00
R4936:Nqo2 UTSW 13 34,165,501 (GRCm39) missense probably damaging 1.00
R5861:Nqo2 UTSW 13 34,156,413 (GRCm39) missense probably damaging 1.00
R6161:Nqo2 UTSW 13 34,163,634 (GRCm39) missense probably damaging 0.99
R6599:Nqo2 UTSW 13 34,163,539 (GRCm39) missense probably damaging 1.00
R7909:Nqo2 UTSW 13 34,156,414 (GRCm39) missense probably damaging 1.00
R8133:Nqo2 UTSW 13 34,169,461 (GRCm39) missense probably benign 0.01
R8495:Nqo2 UTSW 13 34,165,477 (GRCm39) missense probably damaging 1.00
R8543:Nqo2 UTSW 13 34,169,297 (GRCm39) critical splice acceptor site probably null
R9605:Nqo2 UTSW 13 34,156,361 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AGTTTTACCCTAGCCTGCAC -3'
(R):5'- AGTCACTGACCTAGAACCGC -3'

Sequencing Primer
(F):5'- CTGCACTGGGTTTTGGCAAAAAG -3'
(R):5'- CCATCCTCAAGTTAGCTATGTTAGG -3'
Posted On 2022-02-07