Incidental Mutation 'R5385:Duox2'
ID 425047
Institutional Source Beutler Lab
Gene Symbol Duox2
Ensembl Gene ENSMUSG00000068452
Gene Name dual oxidase 2
Synonyms A430065P05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5385 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122279247-122298165 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122295136 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 330 (V330A)
Ref Sequence ENSEMBL: ENSMUSP00000050314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028656] [ENSMUST00000053734]
AlphaFold A0A494BAW1
Predicted Effect probably benign
Transcript: ENSMUST00000028656
SMART Domains Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225

DomainStartEndE-ValueType
Pfam:DuoxA 10 286 5.5e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053734
AA Change: V330A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: V330A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:An_peroxidase 35 560 5e-131 PFAM
transmembrane domain 600 622 N/A INTRINSIC
EFh 823 851 3.7e-5 SMART
EFh 859 887 2.09e-4 SMART
transmembrane domain 1010 1032 N/A INTRINSIC
Pfam:Ferric_reduct 1053 1202 1.8e-22 PFAM
Pfam:FAD_binding_8 1238 1340 3.1e-20 PFAM
Pfam:NAD_binding_6 1346 1500 1.5e-33 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation fail to breed and are congenitally hypothyroid (low T4, high TSH), dwarf, and hearing impaired. Anterior pituitaries are dysplastic. Cochlear defects include delayed formation of the inner sulcus and tunnel of Corti and a thickened tectorial membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,585,612 (GRCm38) T175A probably benign Het
Adam23 A G 1: 63,551,811 (GRCm38) D479G possibly damaging Het
Adgrl3 T G 5: 81,726,801 (GRCm38) Y1050D probably damaging Het
Ago4 A G 4: 126,517,556 (GRCm38) I103T probably benign Het
Ajuba T C 14: 54,570,398 (GRCm38) Y459C probably damaging Het
Aldh7a1 T A 18: 56,534,253 (GRCm38) N316Y possibly damaging Het
Alyref2 A G 1: 171,503,703 (GRCm38) N16S probably benign Het
Ankhd1 A G 18: 36,591,495 (GRCm38) E402G probably damaging Het
Ankrd36 A G 11: 5,689,340 (GRCm38) probably benign Het
Ap2b1 T C 11: 83,342,601 (GRCm38) V480A probably damaging Het
Arhgap30 A G 1: 171,408,280 (GRCm38) R741G probably benign Het
Canx A G 11: 50,301,812 (GRCm38) L325P probably damaging Het
Ccpg1 G A 9: 73,013,044 (GRCm38) S647N probably benign Het
Cdc37l1 T G 19: 29,011,943 (GRCm38) S267A possibly damaging Het
Ces1f A T 8: 93,265,760 (GRCm38) C354* probably null Het
Col4a3bp A G 13: 96,629,067 (GRCm38) T447A possibly damaging Het
Cpne1 A T 2: 156,074,364 (GRCm38) V350D probably damaging Het
Ctdsp2 A G 10: 126,996,457 (GRCm38) T262A probably benign Het
Cypt4 A G 9: 24,625,300 (GRCm38) K29E possibly damaging Het
Dlg2 T C 7: 92,088,576 (GRCm38) V422A probably damaging Het
Dmxl2 A G 9: 54,378,757 (GRCm38) S2715P probably benign Het
Dnah3 T A 7: 119,924,903 (GRCm38) K3953N probably damaging Het
Dnmt1 A G 9: 20,918,480 (GRCm38) V647A probably damaging Het
Dusp8 T A 7: 142,089,993 (GRCm38) Q61L possibly damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm38) D3573G probably damaging Het
Ears2 G C 7: 122,044,377 (GRCm38) T426S probably benign Het
Ext1 C A 15: 53,075,817 (GRCm38) W612L probably damaging Het
Fam91a1 G A 15: 58,448,394 (GRCm38) S645N probably benign Het
Fat3 A T 9: 15,922,675 (GRCm38) L4207Q possibly damaging Het
Fbxo38 A G 18: 62,540,971 (GRCm38) M13T probably benign Het
Fbxo48 G T 11: 16,954,329 (GRCm38) L160F possibly damaging Het
Fer1l4 G A 2: 156,037,366 (GRCm38) Q906* probably null Het
Fpr2 C A 17: 17,893,047 (GRCm38) H102N probably benign Het
Gm10134 T A 2: 28,506,360 (GRCm38) probably benign Het
Gm14085 C A 2: 122,522,778 (GRCm38) L480I probably benign Het
Gpr107 A G 2: 31,214,251 (GRCm38) T523A probably benign Het
Grin3a G A 4: 49,719,313 (GRCm38) P811L probably damaging Het
Hivep1 A T 13: 42,164,395 (GRCm38) probably null Het
Hmcn2 A G 2: 31,460,321 (GRCm38) T5077A probably benign Het
Hpse C T 5: 100,708,724 (GRCm38) W136* probably null Het
Ifitm3 T C 7: 141,010,641 (GRCm38) N2S probably benign Het
Ifnar2 T A 16: 91,404,198 (GRCm38) D442E possibly damaging Het
Jade1 T A 3: 41,591,702 (GRCm38) I54N probably damaging Het
Jag1 A T 2: 137,095,544 (GRCm38) H303Q possibly damaging Het
Kcnh4 T C 11: 100,752,250 (GRCm38) D397G probably damaging Het
Kcnj1 A G 9: 32,396,723 (GRCm38) R148G probably damaging Het
Lct T G 1: 128,311,617 (GRCm38) K277N possibly damaging Het
Loxl3 A G 6: 83,050,612 (GRCm38) M712V probably damaging Het
Ly75 A G 2: 60,303,641 (GRCm38) C1547R probably damaging Het
Marcks A G 10: 37,138,457 (GRCm38) S27P probably damaging Het
Mef2c A G 13: 83,662,413 (GRCm38) T347A probably benign Het
Mmp3 C T 9: 7,451,759 (GRCm38) R366* probably null Het
Mrgprx2 T C 7: 48,483,005 (GRCm38) T22A probably benign Het
Msc C A 1: 14,755,420 (GRCm38) R110L probably damaging Het
Myh11 A T 16: 14,208,008 (GRCm38) V1366D possibly damaging Het
Ncf1 A G 5: 134,221,805 (GRCm38) L373P probably damaging Het
Neb A T 2: 52,189,861 (GRCm38) I85N probably damaging Het
Nfkb1 A G 3: 135,612,542 (GRCm38) V310A possibly damaging Het
Nop2 T C 6: 125,144,361 (GRCm38) V702A probably benign Het
Nudt12 A G 17: 59,003,439 (GRCm38) W390R probably damaging Het
Olfr1115 C T 2: 87,252,483 (GRCm38) P182L probably benign Het
Olfr1418 T A 19: 11,855,177 (GRCm38) I259F probably damaging Het
Olfr160 A T 9: 37,712,021 (GRCm38) V86E probably damaging Het
Olfr251 A T 9: 38,377,985 (GRCm38) I29F probably benign Het
Olfr366 G T 2: 37,219,587 (GRCm38) A33S possibly damaging Het
Olfr430 A T 1: 174,069,470 (GRCm38) K57N probably benign Het
Olfr558 T C 7: 102,709,346 (GRCm38) L29P probably damaging Het
Olfr739 T A 14: 50,425,389 (GRCm38) V290E possibly damaging Het
Olfr784 A G 10: 129,387,764 (GRCm38) I44V probably benign Het
Olfr971 A G 9: 39,839,830 (GRCm38) Y132C possibly damaging Het
Otub2 G A 12: 103,392,796 (GRCm38) probably benign Het
Pck2 A G 14: 55,545,231 (GRCm38) E339G probably damaging Het
Pdcd7 G A 9: 65,358,692 (GRCm38) W477* probably null Het
Pdpk1 G A 17: 24,098,140 (GRCm38) Q250* probably null Het
Pigb T A 9: 73,039,545 (GRCm38) H16L probably benign Het
Pitpnm1 T C 19: 4,103,435 (GRCm38) F197S probably damaging Het
Plekhh2 T C 17: 84,557,466 (GRCm38) V94A probably benign Het
Pnpla7 C A 2: 25,041,019 (GRCm38) P882Q probably damaging Het
Pold2 A G 11: 5,876,760 (GRCm38) L58P probably damaging Het
Pomt1 C G 2: 32,244,299 (GRCm38) Y277* probably null Het
Prex2 A G 1: 11,139,980 (GRCm38) D548G probably damaging Het
Prkra T G 2: 76,639,278 (GRCm38) T146P probably damaging Het
Prss51 T A 14: 64,097,094 (GRCm38) V108E probably damaging Het
Rai2 A G X: 161,778,640 (GRCm38) N363S probably benign Het
Ranbp17 A T 11: 33,219,241 (GRCm38) V991D possibly damaging Het
Riox2 T A 16: 59,486,616 (GRCm38) M290K probably benign Het
Rnpepl1 T A 1: 92,917,192 (GRCm38) L402Q probably damaging Het
S1pr2 T C 9: 20,967,594 (GRCm38) T313A probably benign Het
Sesn2 A G 4: 132,499,264 (GRCm38) I173T probably damaging Het
Setx T G 2: 29,134,033 (GRCm38) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,153,382 (GRCm38) probably benign Het
Sgsm3 T C 15: 81,007,999 (GRCm38) V256A probably benign Het
Shroom4 T A X: 6,585,469 (GRCm38) C894* probably null Het
Slc13a5 T A 11: 72,259,077 (GRCm38) E159D probably benign Het
Slc16a7 A G 10: 125,294,604 (GRCm38) Y71H possibly damaging Het
Slc4a7 T C 14: 14,773,345 (GRCm38) F772L possibly damaging Het
Snapc4 A G 2: 26,374,503 (GRCm38) S275P probably benign Het
Soga3 A G 10: 29,196,770 (GRCm38) D686G probably benign Het
Sorl1 T C 9: 42,057,284 (GRCm38) T558A possibly damaging Het
Sspo C T 6: 48,462,253 (GRCm38) P1612S probably benign Het
Stard9 A G 2: 120,700,630 (GRCm38) E2456G probably damaging Het
Stx1b A T 7: 127,815,403 (GRCm38) D16E probably benign Het
Supv3l1 A T 10: 62,430,596 (GRCm38) N600K possibly damaging Het
Syne1 C T 10: 5,041,494 (GRCm38) V557I probably benign Het
Tanc2 T A 11: 105,776,846 (GRCm38) D84E probably damaging Het
Tep1 A T 14: 50,868,317 (GRCm38) L82Q probably damaging Het
Tfip11 T C 5: 112,331,220 (GRCm38) probably null Het
Thtpa G T 14: 55,095,833 (GRCm38) R125L probably damaging Het
Tm9sf1 C T 14: 55,642,844 (GRCm38) G32D possibly damaging Het
Tmcc3 A T 10: 94,579,153 (GRCm38) N239I probably damaging Het
Tpd52 A T 3: 8,931,195 (GRCm38) probably null Het
Traf6 T A 2: 101,684,755 (GRCm38) C85* probably null Het
Trim68 T G 7: 102,678,783 (GRCm38) D321A probably damaging Het
Trmt6 C A 2: 132,808,783 (GRCm38) A302S probably benign Het
Ttbk1 T C 17: 46,447,632 (GRCm38) D692G probably benign Het
Ttc17 A T 2: 94,303,640 (GRCm38) W1067R probably damaging Het
Ttc6 T A 12: 57,643,035 (GRCm38) probably null Het
Txnrd2 T G 16: 18,477,692 (GRCm38) I468S probably damaging Het
Ube2b A T 11: 51,988,644 (GRCm38) Y100N probably damaging Het
Ucn3 A T 13: 3,941,474 (GRCm38) F59L probably benign Het
Uggt1 A G 1: 36,184,412 (GRCm38) Y599H probably damaging Het
Ulk3 T A 9: 57,590,740 (GRCm38) I108N possibly damaging Het
Vav3 A G 3: 109,527,475 (GRCm38) M441V possibly damaging Het
Vmn2r1 T A 3: 64,101,398 (GRCm38) D499E possibly damaging Het
Vmn2r118 C T 17: 55,611,565 (GRCm38) G109D probably benign Het
Vmn2r5 T A 3: 64,509,510 (GRCm38) M76L probably benign Het
Vwa3a A G 7: 120,790,142 (GRCm38) K68E possibly damaging Het
Zcchc6 A T 13: 59,789,846 (GRCm38) probably null Het
Zmiz1 A T 14: 25,649,813 (GRCm38) Y459F probably damaging Het
Other mutations in Duox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Duox2 APN 2 122,283,575 (GRCm38) missense probably benign
IGL00790:Duox2 APN 2 122,292,300 (GRCm38) missense possibly damaging 0.63
IGL01346:Duox2 APN 2 122,287,202 (GRCm38) splice site probably benign
IGL01607:Duox2 APN 2 122,292,319 (GRCm38) missense probably benign 0.00
IGL01798:Duox2 APN 2 122,281,908 (GRCm38) missense probably damaging 1.00
IGL02000:Duox2 APN 2 122,290,709 (GRCm38) missense probably benign
IGL02219:Duox2 APN 2 122,294,664 (GRCm38) missense probably benign 0.01
IGL02227:Duox2 APN 2 122,285,153 (GRCm38) splice site probably benign
IGL02276:Duox2 APN 2 122,294,085 (GRCm38) missense probably benign 0.00
IGL02447:Duox2 APN 2 122,297,468 (GRCm38) missense probably damaging 0.98
IGL02806:Duox2 APN 2 122,284,666 (GRCm38) missense probably damaging 1.00
IGL03091:Duox2 APN 2 122,289,474 (GRCm38) missense probably benign 0.03
Bedazzled UTSW 2 122,287,121 (GRCm38) missense possibly damaging 0.76
Birthday UTSW 2 122,281,871 (GRCm38) missense probably benign
gregorian UTSW 2 122,289,345 (GRCm38) nonsense probably null
julian UTSW 2 122,289,332 (GRCm38) missense probably benign 0.08
mayan UTSW 2 122,284,583 (GRCm38) missense probably benign 0.00
minor UTSW 2 122,281,496 (GRCm38) missense probably damaging 1.00
oaf UTSW 2 122,295,176 (GRCm38) missense probably damaging 0.98
paltry UTSW 2 122,283,060 (GRCm38) critical splice donor site probably null
promethius UTSW 2 122,296,381 (GRCm38) missense probably benign
Recruit UTSW 2 122,283,897 (GRCm38) missense possibly damaging 0.83
schlemiel UTSW 2 122,289,563 (GRCm38) missense probably null 0.89
stumblebum UTSW 2 122,284,667 (GRCm38) missense probably damaging 1.00
Two-bit UTSW 2 122,281,002 (GRCm38) missense probably benign 0.42
R0049:Duox2 UTSW 2 122,296,686 (GRCm38) missense possibly damaging 0.48
R0244:Duox2 UTSW 2 122,291,860 (GRCm38) missense probably benign 0.00
R0281:Duox2 UTSW 2 122,292,304 (GRCm38) missense probably benign 0.10
R0378:Duox2 UTSW 2 122,284,583 (GRCm38) missense probably benign 0.00
R0383:Duox2 UTSW 2 122,291,810 (GRCm38) critical splice donor site probably null
R0442:Duox2 UTSW 2 122,289,332 (GRCm38) missense probably benign 0.08
R0524:Duox2 UTSW 2 122,281,836 (GRCm38) missense possibly damaging 0.80
R0560:Duox2 UTSW 2 122,291,554 (GRCm38) missense probably benign 0.04
R0562:Duox2 UTSW 2 122,289,599 (GRCm38) missense probably damaging 1.00
R0645:Duox2 UTSW 2 122,292,658 (GRCm38) missense probably damaging 1.00
R0704:Duox2 UTSW 2 122,284,768 (GRCm38) missense probably benign 0.01
R0963:Duox2 UTSW 2 122,287,172 (GRCm38) missense probably benign 0.03
R1254:Duox2 UTSW 2 122,283,478 (GRCm38) missense probably damaging 1.00
R1442:Duox2 UTSW 2 122,281,751 (GRCm38) missense probably benign 0.20
R1473:Duox2 UTSW 2 122,287,121 (GRCm38) missense possibly damaging 0.76
R1489:Duox2 UTSW 2 122,293,396 (GRCm38) missense probably benign
R1738:Duox2 UTSW 2 122,293,414 (GRCm38) missense probably damaging 1.00
R1748:Duox2 UTSW 2 122,287,051 (GRCm38) missense probably benign 0.00
R1809:Duox2 UTSW 2 122,283,897 (GRCm38) missense possibly damaging 0.83
R1843:Duox2 UTSW 2 122,292,258 (GRCm38) critical splice donor site probably null
R1903:Duox2 UTSW 2 122,295,351 (GRCm38) missense probably damaging 1.00
R1962:Duox2 UTSW 2 122,297,372 (GRCm38) splice site probably null
R2069:Duox2 UTSW 2 122,287,108 (GRCm38) missense probably benign 0.01
R2073:Duox2 UTSW 2 122,295,158 (GRCm38) missense probably damaging 1.00
R2074:Duox2 UTSW 2 122,295,158 (GRCm38) missense probably damaging 1.00
R2075:Duox2 UTSW 2 122,295,158 (GRCm38) missense probably damaging 1.00
R2085:Duox2 UTSW 2 122,280,967 (GRCm38) missense probably damaging 1.00
R3123:Duox2 UTSW 2 122,281,073 (GRCm38) splice site probably benign
R3907:Duox2 UTSW 2 122,283,060 (GRCm38) critical splice donor site probably null
R4572:Duox2 UTSW 2 122,281,726 (GRCm38) missense probably benign 0.00
R4614:Duox2 UTSW 2 122,289,557 (GRCm38) missense probably damaging 1.00
R4675:Duox2 UTSW 2 122,280,933 (GRCm38) missense probably damaging 1.00
R4770:Duox2 UTSW 2 122,284,916 (GRCm38) missense probably benign 0.01
R4817:Duox2 UTSW 2 122,296,515 (GRCm38) missense probably damaging 0.98
R4931:Duox2 UTSW 2 122,296,755 (GRCm38) missense probably benign 0.01
R5138:Duox2 UTSW 2 122,297,531 (GRCm38) missense probably damaging 1.00
R5288:Duox2 UTSW 2 122,295,136 (GRCm38) missense probably benign
R5344:Duox2 UTSW 2 122,281,871 (GRCm38) missense probably benign
R5386:Duox2 UTSW 2 122,295,136 (GRCm38) missense probably benign
R5493:Duox2 UTSW 2 122,281,496 (GRCm38) missense probably damaging 1.00
R5632:Duox2 UTSW 2 122,281,455 (GRCm38) missense probably damaging 1.00
R5742:Duox2 UTSW 2 122,284,921 (GRCm38) missense probably benign 0.00
R6228:Duox2 UTSW 2 122,287,193 (GRCm38) missense probably benign 0.38
R6380:Duox2 UTSW 2 122,281,002 (GRCm38) missense probably benign 0.42
R6398:Duox2 UTSW 2 122,296,370 (GRCm38) missense probably benign 0.06
R6409:Duox2 UTSW 2 122,284,667 (GRCm38) missense probably damaging 1.00
R6527:Duox2 UTSW 2 122,294,614 (GRCm38) missense probably benign 0.29
R6596:Duox2 UTSW 2 122,285,338 (GRCm38) missense probably benign
R6719:Duox2 UTSW 2 122,284,386 (GRCm38) splice site probably null
R6981:Duox2 UTSW 2 122,291,227 (GRCm38) missense possibly damaging 0.95
R7036:Duox2 UTSW 2 122,280,453 (GRCm38) missense probably damaging 1.00
R7073:Duox2 UTSW 2 122,289,307 (GRCm38) missense probably damaging 1.00
R7105:Duox2 UTSW 2 122,289,552 (GRCm38) missense possibly damaging 0.93
R7127:Duox2 UTSW 2 122,291,949 (GRCm38) missense probably benign 0.02
R7259:Duox2 UTSW 2 122,295,176 (GRCm38) missense probably damaging 0.98
R7698:Duox2 UTSW 2 122,280,764 (GRCm38) missense probably damaging 1.00
R7999:Duox2 UTSW 2 122,283,467 (GRCm38) missense probably benign 0.00
R8103:Duox2 UTSW 2 122,287,054 (GRCm38) missense probably benign
R8231:Duox2 UTSW 2 122,289,563 (GRCm38) missense possibly damaging 0.55
R8439:Duox2 UTSW 2 122,298,155 (GRCm38) missense probably benign
R8712:Duox2 UTSW 2 122,289,345 (GRCm38) nonsense probably null
R8887:Duox2 UTSW 2 122,289,563 (GRCm38) missense probably null 0.89
R8909:Duox2 UTSW 2 122,296,381 (GRCm38) missense probably benign
R9022:Duox2 UTSW 2 122,280,438 (GRCm38) makesense probably null
R9350:Duox2 UTSW 2 122,285,248 (GRCm38) nonsense probably null
R9727:Duox2 UTSW 2 122,286,517 (GRCm38) nonsense probably null
Z1176:Duox2 UTSW 2 122,296,507 (GRCm38) missense probably damaging 1.00
Z1177:Duox2 UTSW 2 122,293,452 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GATTTCCTATGGATCCCAAACTTCC -3'
(R):5'- TTCCTGCAGAAAACTCCTCCAG -3'

Sequencing Primer
(F):5'- ACCCCAGGATCCTGCTTCAG -3'
(R):5'- CTCCTCCAGAGTATTCAGGTAATGG -3'
Posted On 2016-08-04