Incidental Mutation 'R4926:Nox3'
ID 379069
Institutional Source Beutler Lab
Gene Symbol Nox3
Ensembl Gene ENSMUSG00000023802
Gene Name NADPH oxidase 3
Synonyms het, nmf250
MMRRC Submission 042527-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R4926 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 3685515-3746536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3720169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 339 (T339S)
Ref Sequence ENSEMBL: ENSMUSP00000111466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115800]
AlphaFold Q672J9
Predicted Effect probably damaging
Transcript: ENSMUST00000115800
AA Change: T339S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: T339S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Ferric_reduct 55 218 5.4e-23 PFAM
Pfam:FAD_binding_6 290 379 1.8e-8 PFAM
Pfam:FAD_binding_8 291 393 1.5e-27 PFAM
Pfam:NAD_binding_6 399 549 1e-34 PFAM
Meta Mutation Damage Score 0.2618 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes catalyze the transfer of electrons from NADPH to molecular oxygen to produce superoxide and other reactive oxygen species (ROS). The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia, which are crystalline structures of the inner ear involved in the perception of gravity and linear acceleration. In mouse mutations of this gene lead to the absence of otoconia and vestibular dysfunction. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants bilaterally lack otoliths in otherwise normal ears and display impaired swimming ability, motor capabilities, and vestibular responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,272,498 (GRCm39) D136V probably damaging Het
Ankrd17 G A 5: 90,447,891 (GRCm39) R217W probably damaging Het
Ankrd23 A T 1: 36,571,068 (GRCm39) H102Q probably damaging Het
Arfip2 G T 7: 105,287,151 (GRCm39) R138S probably damaging Het
Arhgap27 A T 11: 103,229,949 (GRCm39) probably null Het
Atg2a T C 19: 6,307,563 (GRCm39) L1499P probably damaging Het
Bnc2 A G 4: 84,194,416 (GRCm39) S110P probably damaging Het
Ccdc171 T C 4: 83,476,829 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,706,535 (GRCm39) probably benign Het
Chd5 T C 4: 152,467,768 (GRCm39) S1689P probably benign Het
Corin A G 5: 72,529,525 (GRCm39) C212R probably damaging Het
Cyp2c65 A G 19: 39,049,597 (GRCm39) I42V probably benign Het
Cyp3a25 G A 5: 145,928,266 (GRCm39) R260C probably damaging Het
Dock6 T C 9: 21,757,087 (GRCm39) Y116C probably damaging Het
Eif3a A G 19: 60,751,656 (GRCm39) probably benign Het
Epop T C 11: 97,519,143 (GRCm39) D322G probably damaging Het
Eps8l3 T A 3: 107,798,004 (GRCm39) probably benign Het
Exph5 T C 9: 53,287,925 (GRCm39) S1669P possibly damaging Het
Faah A T 4: 115,856,823 (GRCm39) probably benign Het
Fanca A G 8: 124,030,724 (GRCm39) C453R probably benign Het
Fcgbp T A 7: 27,785,660 (GRCm39) C366S probably damaging Het
Fmn2 A G 1: 174,329,981 (GRCm39) T124A unknown Het
Foxi3 C T 6: 70,933,996 (GRCm39) S161L probably damaging Het
Foxo3 A T 10: 42,073,020 (GRCm39) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Gm839 A C 6: 89,189,581 (GRCm39) noncoding transcript Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Hspa1l A G 17: 35,197,199 (GRCm39) T413A possibly damaging Het
Hspg2 T C 4: 137,269,841 (GRCm39) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,884,093 (GRCm39) I53L probably benign Het
Kcnj11 C T 7: 45,748,544 (GRCm39) V260I probably benign Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrrc41 T C 4: 115,946,521 (GRCm39) V412A possibly damaging Het
Map4k4 A T 1: 40,056,385 (GRCm39) E1023D probably damaging Het
Mark3 T A 12: 111,584,758 (GRCm39) L118* probably null Het
Mrgpra9 T A 7: 46,884,759 (GRCm39) T303S possibly damaging Het
Mterf4 T C 1: 93,232,647 (GRCm39) E68G probably benign Het
Nckap5 A C 1: 126,456,378 (GRCm39) probably benign Het
Nrip2 A C 6: 128,385,337 (GRCm39) H256P probably benign Het
Oas1d T C 5: 121,053,831 (GRCm39) V97A probably benign Het
Obox2 T A 7: 15,131,102 (GRCm39) probably null Het
Opa1 T C 16: 29,467,791 (GRCm39) F989S possibly damaging Het
Or10g9 T C 9: 39,912,319 (GRCm39) probably null Het
Padi1 T A 4: 140,552,158 (GRCm39) I429F probably damaging Het
Paics A G 5: 77,109,051 (GRCm39) D163G probably damaging Het
Pik3c2b G T 1: 133,027,364 (GRCm39) E1288* probably null Het
Prdm16 A T 4: 154,426,009 (GRCm39) V593D possibly damaging Het
Prpf39 A G 12: 65,090,830 (GRCm39) I165M possibly damaging Het
Pth2r A G 1: 65,361,143 (GRCm39) T26A probably benign Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Rab44 C T 17: 29,358,529 (GRCm39) A239V probably benign Het
Rtcb T C 10: 85,791,600 (GRCm39) N52S probably benign Het
Sapcd2 T A 2: 25,263,578 (GRCm39) probably null Het
Scaf11 T C 15: 96,316,123 (GRCm39) E1147G possibly damaging Het
Selenoo T C 15: 88,983,881 (GRCm39) Y595H probably damaging Het
Slc2a5 G T 4: 150,205,199 (GRCm39) E3* probably null Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sorbs2 A G 8: 46,249,254 (GRCm39) K755R probably benign Het
Sorbs3 G T 14: 70,424,394 (GRCm39) P513T probably damaging Het
Sowaha T A 11: 53,370,337 (GRCm39) E133V possibly damaging Het
Srsf5 T C 12: 80,994,075 (GRCm39) probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tcp11l1 T C 2: 104,512,130 (GRCm39) I501V probably benign Het
Tert A G 13: 73,796,508 (GRCm39) K1080E possibly damaging Het
Tescl T A 7: 24,033,323 (GRCm39) M1L possibly damaging Het
Thop1 T A 10: 80,909,201 (GRCm39) probably null Het
Tmtc4 T C 14: 123,210,618 (GRCm39) H80R probably damaging Het
Toe1 C T 4: 116,661,729 (GRCm39) S480N probably damaging Het
Trap1 C A 16: 3,863,352 (GRCm39) V557F probably benign Het
Trim30d T C 7: 104,132,564 (GRCm39) E91G probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttll8 C A 15: 88,798,368 (GRCm39) G789V probably damaging Het
Ulk4 A G 9: 121,087,798 (GRCm39) F298S probably benign Het
Wwc1 C T 11: 35,780,227 (GRCm39) A243T probably benign Het
Zfp248 A C 6: 118,406,787 (GRCm39) H267Q possibly damaging Het
Zfyve26 T A 12: 79,321,785 (GRCm39) M945L probably benign Het
Zup1 T C 10: 33,825,434 (GRCm39) D16G probably damaging Het
Other mutations in Nox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Nox3 APN 17 3,733,290 (GRCm39) missense probably damaging 0.99
IGL01135:Nox3 APN 17 3,746,527 (GRCm39) utr 5 prime probably benign
IGL01791:Nox3 APN 17 3,733,218 (GRCm39) missense possibly damaging 0.68
IGL02423:Nox3 APN 17 3,733,191 (GRCm39) missense probably damaging 1.00
IGL03091:Nox3 APN 17 3,716,119 (GRCm39) missense probably benign 0.42
R0046:Nox3 UTSW 17 3,733,236 (GRCm39) missense probably benign 0.08
R0046:Nox3 UTSW 17 3,733,236 (GRCm39) missense probably benign 0.08
R0085:Nox3 UTSW 17 3,685,556 (GRCm39) missense probably benign 0.14
R0426:Nox3 UTSW 17 3,745,838 (GRCm39) missense probably damaging 1.00
R0690:Nox3 UTSW 17 3,745,839 (GRCm39) missense probably damaging 1.00
R1281:Nox3 UTSW 17 3,746,460 (GRCm39) missense probably damaging 1.00
R1350:Nox3 UTSW 17 3,700,396 (GRCm39) missense probably damaging 1.00
R1843:Nox3 UTSW 17 3,720,153 (GRCm39) missense probably damaging 1.00
R1902:Nox3 UTSW 17 3,720,292 (GRCm39) missense probably damaging 1.00
R2023:Nox3 UTSW 17 3,744,296 (GRCm39) splice site probably benign
R2762:Nox3 UTSW 17 3,746,433 (GRCm39) missense probably benign 0.35
R2872:Nox3 UTSW 17 3,733,191 (GRCm39) missense probably damaging 1.00
R2872:Nox3 UTSW 17 3,733,191 (GRCm39) missense probably damaging 1.00
R4429:Nox3 UTSW 17 3,733,233 (GRCm39) missense probably benign 0.05
R4630:Nox3 UTSW 17 3,744,257 (GRCm39) missense possibly damaging 0.53
R4928:Nox3 UTSW 17 3,685,550 (GRCm39) missense probably null 1.00
R5181:Nox3 UTSW 17 3,685,561 (GRCm39) nonsense probably null
R6911:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R6912:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R7486:Nox3 UTSW 17 3,720,219 (GRCm39) missense probably damaging 1.00
R7529:Nox3 UTSW 17 3,722,050 (GRCm39) missense probably damaging 0.99
R8355:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8357:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8455:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8457:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R9028:Nox3 UTSW 17 3,716,185 (GRCm39) missense possibly damaging 0.62
R9128:Nox3 UTSW 17 3,720,136 (GRCm39) missense probably damaging 1.00
R9581:Nox3 UTSW 17 3,700,328 (GRCm39) missense possibly damaging 0.95
R9780:Nox3 UTSW 17 3,736,260 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CCCGTTTGAAGTAGCACAGC -3'
(R):5'- TGGACAGAAGAATGTGCTCTTG -3'

Sequencing Primer
(F):5'- CAGCTTGTATATAACAGTGACCTGGG -3'
(R):5'- GTCATTTTACCTGAGTGAGAATCCC -3'
Posted On 2016-04-15