Incidental Mutation 'R1748:Duox2'
ID 194095
Institutional Source Beutler Lab
Gene Symbol Duox2
Ensembl Gene ENSMUSG00000068452
Gene Name dual oxidase 2
Synonyms A430065P05Rik
MMRRC Submission 039780-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1748 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122109728-122128930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122117532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 934 (D934G)
Ref Sequence ENSEMBL: ENSMUSP00000050314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053734]
AlphaFold A0A494BAW1
Predicted Effect probably benign
Transcript: ENSMUST00000053734
AA Change: D934G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: D934G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155820
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,152,338 (GRCm39) Q1403K probably benign Het
Adamts12 G A 15: 11,241,548 (GRCm39) M373I probably damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aire T C 10: 77,879,314 (GRCm39) H15R probably damaging Het
Aldh3b2 T C 19: 4,027,572 (GRCm39) F38L probably damaging Het
Alk A C 17: 72,910,416 (GRCm39) C97G probably benign Het
Ano8 T C 8: 71,931,602 (GRCm39) probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arsk T A 13: 76,210,529 (GRCm39) H506L probably benign Het
Asgr2 G T 11: 69,987,658 (GRCm39) R52L probably damaging Het
Atp2a1 A G 7: 126,058,780 (GRCm39) I145T possibly damaging Het
Atrnl1 A G 19: 57,703,134 (GRCm39) T1051A probably damaging Het
Cacna1e A T 1: 154,362,315 (GRCm39) V424D possibly damaging Het
Capn3 T C 2: 120,327,494 (GRCm39) V574A probably benign Het
Capzb C A 4: 138,984,679 (GRCm39) D67E probably damaging Het
Ccdc68 A T 18: 70,089,062 (GRCm39) T202S probably benign Het
Ccser2 T C 14: 36,618,270 (GRCm39) K123R probably damaging Het
Ccser2 T A 14: 36,618,271 (GRCm39) K123* probably null Het
Ces2h T C 8: 105,744,473 (GRCm39) I316T probably benign Het
Chd3 T G 11: 69,255,523 (GRCm39) K122Q possibly damaging Het
Col12a1 T C 9: 79,580,279 (GRCm39) T1533A probably benign Het
Cr2 T A 1: 194,838,213 (GRCm39) K1084* probably null Het
Ddx28 A G 8: 106,737,314 (GRCm39) L248P probably benign Het
Depdc5 A G 5: 33,075,286 (GRCm39) E488G probably benign Het
Dld T C 12: 31,384,745 (GRCm39) T305A probably benign Het
Dok5 T A 2: 170,683,373 (GRCm39) F211L probably damaging Het
Eif3a G A 19: 60,755,236 (GRCm39) T982I unknown Het
Erbb2 G T 11: 98,326,161 (GRCm39) R979L probably benign Het
Espl1 G T 15: 102,206,964 (GRCm39) V143L possibly damaging Het
Fanci T C 7: 79,080,236 (GRCm39) L598P probably damaging Het
Fat2 T A 11: 55,147,473 (GRCm39) E3923V probably damaging Het
Fhod3 A T 18: 24,903,550 (GRCm39) K95* probably null Het
Gpr108 G T 17: 57,543,217 (GRCm39) T484K probably damaging Het
Hao1 T A 2: 134,340,238 (GRCm39) N351I possibly damaging Het
Hepacam A T 9: 37,295,189 (GRCm39) N308I possibly damaging Het
Herc2 T C 7: 55,798,571 (GRCm39) probably null Het
Hltf T C 3: 20,130,685 (GRCm39) I301T probably benign Het
Igsf10 A T 3: 59,226,514 (GRCm39) N2386K probably damaging Het
Ikbke G T 1: 131,186,937 (GRCm39) T585K probably benign Het
Iqgap3 A G 3: 88,021,287 (GRCm39) T448A possibly damaging Het
Kl T C 5: 150,904,450 (GRCm39) S401P possibly damaging Het
Lama4 T C 10: 38,941,615 (GRCm39) V684A probably benign Het
Lgals8 A T 13: 12,469,824 (GRCm39) F45Y probably damaging Het
Lgalsl G A 11: 20,776,491 (GRCm39) R134C probably benign Het
Lmcd1 T C 6: 112,306,875 (GRCm39) V349A probably benign Het
Lrp1b T A 2: 41,618,718 (GRCm39) N119Y possibly damaging Het
Lrrc73 T A 17: 46,566,621 (GRCm39) I157N probably damaging Het
Map3k8 A G 18: 4,334,766 (GRCm39) Y293H probably damaging Het
Mybphl A T 3: 108,282,400 (GRCm39) probably null Het
Naa12 T C 18: 80,255,161 (GRCm39) S152P probably benign Het
Ndrg1 A G 15: 66,802,930 (GRCm39) M140T possibly damaging Het
Or2n1e T A 17: 38,585,997 (GRCm39) C112S possibly damaging Het
Or8b38 A G 9: 37,972,796 (GRCm39) Y60C probably damaging Het
Pbx2 T C 17: 34,812,951 (GRCm39) S76P possibly damaging Het
Plcl2 T A 17: 50,913,826 (GRCm39) S278R probably benign Het
Polr3d A T 14: 70,676,915 (GRCm39) L393* probably null Het
Prmt6 T C 3: 110,157,683 (GRCm39) Q202R probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sag T A 1: 87,759,662 (GRCm39) I300N probably damaging Het
Sap25 T A 5: 137,640,180 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,695 (GRCm39) L177P probably damaging Het
Sh3pxd2b A T 11: 32,372,203 (GRCm39) N457Y possibly damaging Het
Siae T A 9: 37,542,902 (GRCm39) probably null Het
Slc36a1 T C 11: 55,119,150 (GRCm39) L375P probably damaging Het
Smg8 A G 11: 86,976,594 (GRCm39) V329A probably damaging Het
Tas2r113 A T 6: 132,870,695 (GRCm39) Y241F probably damaging Het
Tm9sf3 T G 19: 41,244,668 (GRCm39) S70R probably benign Het
Tmem144 C T 3: 79,732,594 (GRCm39) S228N probably damaging Het
Tmem45a C A 16: 56,642,701 (GRCm39) V157F possibly damaging Het
Tpbg G T 9: 85,726,429 (GRCm39) V133L probably damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Ube2c T C 2: 164,613,241 (GRCm39) F53S probably damaging Het
Vmn1r78 T A 7: 11,887,250 (GRCm39) V287D probably damaging Het
Vmn2r114 T A 17: 23,527,035 (GRCm39) D499V probably benign Het
Zpld2 C G 4: 133,927,610 (GRCm39) C381S probably damaging Het
Zpld2 T A 4: 133,929,430 (GRCm39) T292S possibly damaging Het
Other mutations in Duox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Duox2 APN 2 122,114,056 (GRCm39) missense probably benign
IGL00790:Duox2 APN 2 122,122,781 (GRCm39) missense possibly damaging 0.63
IGL01346:Duox2 APN 2 122,117,683 (GRCm39) splice site probably benign
IGL01607:Duox2 APN 2 122,122,800 (GRCm39) missense probably benign 0.00
IGL01798:Duox2 APN 2 122,112,389 (GRCm39) missense probably damaging 1.00
IGL02000:Duox2 APN 2 122,121,190 (GRCm39) missense probably benign
IGL02219:Duox2 APN 2 122,125,145 (GRCm39) missense probably benign 0.01
IGL02227:Duox2 APN 2 122,115,634 (GRCm39) splice site probably benign
IGL02276:Duox2 APN 2 122,124,566 (GRCm39) missense probably benign 0.00
IGL02447:Duox2 APN 2 122,127,949 (GRCm39) missense probably damaging 0.98
IGL02806:Duox2 APN 2 122,115,147 (GRCm39) missense probably damaging 1.00
IGL03091:Duox2 APN 2 122,119,955 (GRCm39) missense probably benign 0.03
Bedazzled UTSW 2 122,117,602 (GRCm39) missense possibly damaging 0.76
Birthday UTSW 2 122,112,352 (GRCm39) missense probably benign
gregorian UTSW 2 122,119,826 (GRCm39) nonsense probably null
julian UTSW 2 122,119,813 (GRCm39) missense probably benign 0.08
mayan UTSW 2 122,115,064 (GRCm39) missense probably benign 0.00
minor UTSW 2 122,111,977 (GRCm39) missense probably damaging 1.00
oaf UTSW 2 122,125,657 (GRCm39) missense probably damaging 0.98
paltry UTSW 2 122,113,541 (GRCm39) critical splice donor site probably null
promethius UTSW 2 122,126,862 (GRCm39) missense probably benign
Recruit UTSW 2 122,114,378 (GRCm39) missense possibly damaging 0.83
schlemiel UTSW 2 122,120,044 (GRCm39) missense probably null 0.89
stumblebum UTSW 2 122,115,148 (GRCm39) missense probably damaging 1.00
Two-bit UTSW 2 122,111,483 (GRCm39) missense probably benign 0.42
R0049:Duox2 UTSW 2 122,127,167 (GRCm39) missense possibly damaging 0.48
R0244:Duox2 UTSW 2 122,122,341 (GRCm39) missense probably benign 0.00
R0281:Duox2 UTSW 2 122,122,785 (GRCm39) missense probably benign 0.10
R0378:Duox2 UTSW 2 122,115,064 (GRCm39) missense probably benign 0.00
R0383:Duox2 UTSW 2 122,122,291 (GRCm39) critical splice donor site probably null
R0442:Duox2 UTSW 2 122,119,813 (GRCm39) missense probably benign 0.08
R0524:Duox2 UTSW 2 122,112,317 (GRCm39) missense possibly damaging 0.80
R0560:Duox2 UTSW 2 122,122,035 (GRCm39) missense probably benign 0.04
R0562:Duox2 UTSW 2 122,120,080 (GRCm39) missense probably damaging 1.00
R0645:Duox2 UTSW 2 122,123,139 (GRCm39) missense probably damaging 1.00
R0704:Duox2 UTSW 2 122,115,249 (GRCm39) missense probably benign 0.01
R0963:Duox2 UTSW 2 122,117,653 (GRCm39) missense probably benign 0.03
R1254:Duox2 UTSW 2 122,113,959 (GRCm39) missense probably damaging 1.00
R1442:Duox2 UTSW 2 122,112,232 (GRCm39) missense probably benign 0.20
R1473:Duox2 UTSW 2 122,117,602 (GRCm39) missense possibly damaging 0.76
R1489:Duox2 UTSW 2 122,123,877 (GRCm39) missense probably benign
R1738:Duox2 UTSW 2 122,123,895 (GRCm39) missense probably damaging 1.00
R1809:Duox2 UTSW 2 122,114,378 (GRCm39) missense possibly damaging 0.83
R1843:Duox2 UTSW 2 122,122,739 (GRCm39) critical splice donor site probably null
R1903:Duox2 UTSW 2 122,125,832 (GRCm39) missense probably damaging 1.00
R1962:Duox2 UTSW 2 122,127,853 (GRCm39) splice site probably null
R2069:Duox2 UTSW 2 122,117,589 (GRCm39) missense probably benign 0.01
R2073:Duox2 UTSW 2 122,125,639 (GRCm39) missense probably damaging 1.00
R2074:Duox2 UTSW 2 122,125,639 (GRCm39) missense probably damaging 1.00
R2075:Duox2 UTSW 2 122,125,639 (GRCm39) missense probably damaging 1.00
R2085:Duox2 UTSW 2 122,111,448 (GRCm39) missense probably damaging 1.00
R3123:Duox2 UTSW 2 122,111,554 (GRCm39) splice site probably benign
R3907:Duox2 UTSW 2 122,113,541 (GRCm39) critical splice donor site probably null
R4572:Duox2 UTSW 2 122,112,207 (GRCm39) missense probably benign 0.00
R4614:Duox2 UTSW 2 122,120,038 (GRCm39) missense probably damaging 1.00
R4675:Duox2 UTSW 2 122,111,414 (GRCm39) missense probably damaging 1.00
R4770:Duox2 UTSW 2 122,115,397 (GRCm39) missense probably benign 0.01
R4817:Duox2 UTSW 2 122,126,996 (GRCm39) missense probably damaging 0.98
R4931:Duox2 UTSW 2 122,127,236 (GRCm39) missense probably benign 0.01
R5138:Duox2 UTSW 2 122,128,012 (GRCm39) missense probably damaging 1.00
R5288:Duox2 UTSW 2 122,125,617 (GRCm39) missense probably benign
R5344:Duox2 UTSW 2 122,112,352 (GRCm39) missense probably benign
R5385:Duox2 UTSW 2 122,125,617 (GRCm39) missense probably benign
R5386:Duox2 UTSW 2 122,125,617 (GRCm39) missense probably benign
R5493:Duox2 UTSW 2 122,111,977 (GRCm39) missense probably damaging 1.00
R5632:Duox2 UTSW 2 122,111,936 (GRCm39) missense probably damaging 1.00
R5742:Duox2 UTSW 2 122,115,402 (GRCm39) missense probably benign 0.00
R6228:Duox2 UTSW 2 122,117,674 (GRCm39) missense probably benign 0.38
R6380:Duox2 UTSW 2 122,111,483 (GRCm39) missense probably benign 0.42
R6398:Duox2 UTSW 2 122,126,851 (GRCm39) missense probably benign 0.06
R6409:Duox2 UTSW 2 122,115,148 (GRCm39) missense probably damaging 1.00
R6527:Duox2 UTSW 2 122,125,095 (GRCm39) missense probably benign 0.29
R6596:Duox2 UTSW 2 122,115,819 (GRCm39) missense probably benign
R6719:Duox2 UTSW 2 122,114,867 (GRCm39) splice site probably null
R6981:Duox2 UTSW 2 122,121,708 (GRCm39) missense possibly damaging 0.95
R7036:Duox2 UTSW 2 122,110,934 (GRCm39) missense probably damaging 1.00
R7073:Duox2 UTSW 2 122,119,788 (GRCm39) missense probably damaging 1.00
R7105:Duox2 UTSW 2 122,120,033 (GRCm39) missense possibly damaging 0.93
R7127:Duox2 UTSW 2 122,122,430 (GRCm39) missense probably benign 0.02
R7259:Duox2 UTSW 2 122,125,657 (GRCm39) missense probably damaging 0.98
R7698:Duox2 UTSW 2 122,111,245 (GRCm39) missense probably damaging 1.00
R7999:Duox2 UTSW 2 122,113,948 (GRCm39) missense probably benign 0.00
R8103:Duox2 UTSW 2 122,117,535 (GRCm39) missense probably benign
R8231:Duox2 UTSW 2 122,120,044 (GRCm39) missense possibly damaging 0.55
R8439:Duox2 UTSW 2 122,128,636 (GRCm39) missense probably benign
R8712:Duox2 UTSW 2 122,119,826 (GRCm39) nonsense probably null
R8887:Duox2 UTSW 2 122,120,044 (GRCm39) missense probably null 0.89
R8909:Duox2 UTSW 2 122,126,862 (GRCm39) missense probably benign
R9022:Duox2 UTSW 2 122,110,919 (GRCm39) makesense probably null
R9350:Duox2 UTSW 2 122,115,729 (GRCm39) nonsense probably null
R9727:Duox2 UTSW 2 122,116,998 (GRCm39) nonsense probably null
Z1176:Duox2 UTSW 2 122,126,988 (GRCm39) missense probably damaging 1.00
Z1177:Duox2 UTSW 2 122,123,933 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCCCCTTGGCTTAGTGAACAACTC -3'
(R):5'- CAAGCCTGACCTTGCTGGATGATAG -3'

Sequencing Primer
(F):5'- GGCTTAGTGAACAACTCTGCAC -3'
(R):5'- GACCTTGCTGGATGATAGCTACC -3'
Posted On 2014-05-23