Incidental Mutation 'R1843:Duox2'
ID 207391
Institutional Source Beutler Lab
Gene Symbol Duox2
Ensembl Gene ENSMUSG00000068452
Gene Name dual oxidase 2
Synonyms A430065P05Rik
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1843 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122109728-122128930 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 122122739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053734]
AlphaFold A0A494BAW1
Predicted Effect probably null
Transcript: ENSMUST00000053734
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 106,435,606 (GRCm39) T88M probably damaging Het
9430038I01Rik A G 7: 136,978,795 (GRCm39) probably benign Het
Adgra3 A C 5: 50,118,834 (GRCm39) S905A probably damaging Het
Adgrv1 A G 13: 81,692,652 (GRCm39) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,509,176 (GRCm39) T26A probably benign Het
Ankrd13d T C 19: 4,321,623 (GRCm39) K360E probably damaging Het
Anks1b T A 10: 90,348,751 (GRCm39) probably null Het
Apob T C 12: 8,057,602 (GRCm39) F2028S possibly damaging Het
Arap3 G A 18: 38,108,636 (GRCm39) R1265W probably damaging Het
Arhgef37 A G 18: 61,651,121 (GRCm39) Y135H probably damaging Het
Armh3 A C 19: 45,963,691 (GRCm39) S42R probably benign Het
Atp1a1 T C 3: 101,489,333 (GRCm39) T760A probably benign Het
Cdc42bpb T A 12: 111,289,255 (GRCm39) M497L probably benign Het
Ces5a C T 8: 94,240,859 (GRCm39) V413M probably damaging Het
Chd5 A T 4: 152,470,263 (GRCm39) Y1903F probably damaging Het
Chd9 T A 8: 91,737,422 (GRCm39) N1500K probably benign Het
Chmp7 G T 14: 69,957,248 (GRCm39) D303E probably benign Het
Chrnb4 A T 9: 54,942,102 (GRCm39) Y391N possibly damaging Het
Crtc1 T C 8: 70,840,802 (GRCm39) T475A probably benign Het
Cyp2c69 A G 19: 39,865,972 (GRCm39) I207T probably benign Het
Dcp1a A G 14: 30,240,940 (GRCm39) E250G probably damaging Het
Ddx20 T C 3: 105,586,398 (GRCm39) Q649R probably benign Het
Defb12 T A 8: 19,162,754 (GRCm39) K59N probably damaging Het
Dpy19l3 A T 7: 35,429,185 (GRCm39) I85N probably damaging Het
Ebi3 T A 17: 56,263,679 (GRCm39) Y197N probably damaging Het
Emc1 G A 4: 139,102,823 (GRCm39) R994Q probably benign Het
Ercc6 G T 14: 32,268,777 (GRCm39) M530I probably damaging Het
Evl T A 12: 108,619,255 (GRCm39) D70E probably damaging Het
Fbln2 A G 6: 91,242,757 (GRCm39) N819S probably damaging Het
Foxk2 A G 11: 121,176,363 (GRCm39) I170V probably benign Het
Gfm1 T C 3: 67,342,943 (GRCm39) V159A probably damaging Het
Gm10837 A G 14: 122,728,177 (GRCm39) T18A unknown Het
Gm12887 A T 4: 121,479,227 (GRCm39) V25E probably damaging Het
Hectd4 A G 5: 121,435,243 (GRCm39) H985R possibly damaging Het
Hsfy2 A G 1: 56,675,791 (GRCm39) Y249H possibly damaging Het
Hspg2 T C 4: 137,272,878 (GRCm39) V2639A probably damaging Het
Igf2r A G 17: 12,923,157 (GRCm39) probably null Het
Invs T A 4: 48,422,035 (GRCm39) I889N probably damaging Het
Kcnq1 A T 7: 142,736,857 (GRCm39) M209L probably benign Het
Klra7 A G 6: 130,206,957 (GRCm39) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrif1 T A 3: 106,640,127 (GRCm39) V404D probably damaging Het
Lrriq1 T A 10: 103,063,034 (GRCm39) probably null Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Mbp A G 18: 82,602,247 (GRCm39) D174G probably damaging Het
Megf9 G T 4: 70,453,022 (GRCm39) P13Q probably damaging Het
Myo15b A T 11: 115,760,412 (GRCm39) T1155S probably benign Het
Nherf2 C T 17: 24,860,693 (GRCm39) S150N possibly damaging Het
Nlrp6 T A 7: 140,503,006 (GRCm39) C371S probably damaging Het
Nosip T A 7: 44,726,733 (GRCm39) probably null Het
Nox3 G T 17: 3,720,153 (GRCm39) P344H probably damaging Het
Nup210l T C 3: 90,079,393 (GRCm39) V959A probably damaging Het
Or10d1 A G 9: 39,484,031 (GRCm39) Y175H possibly damaging Het
Or2b2b C A 13: 21,858,842 (GRCm39) V91L probably benign Het
Or2k2 T C 4: 58,785,384 (GRCm39) I113V probably benign Het
Or5b119 A G 19: 13,457,295 (GRCm39) I89T probably benign Het
Or5k8 T A 16: 58,644,440 (GRCm39) I211F probably damaging Het
Osbpl3 A C 6: 50,347,123 (GRCm39) S25A probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pax7 G A 4: 139,511,802 (GRCm39) R260C probably damaging Het
Pbrm1 A T 14: 30,760,914 (GRCm39) I224F probably damaging Het
Pcdh1 T A 18: 38,325,278 (GRCm39) probably null Het
Pcnx1 T C 12: 82,027,709 (GRCm39) L1585P probably damaging Het
Pde4c C T 8: 71,200,599 (GRCm39) H362Y probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pgm1 A T 4: 99,818,675 (GRCm39) Q90L probably damaging Het
Phlpp1 A G 1: 106,271,235 (GRCm39) H814R probably benign Het
Pknox2 A T 9: 36,866,127 (GRCm39) M5K possibly damaging Het
Pole G A 5: 110,478,701 (GRCm39) probably null Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prelp T C 1: 133,842,495 (GRCm39) K217E probably damaging Het
Prkce C T 17: 86,782,974 (GRCm39) Q202* probably null Het
Psmd2 T G 16: 20,475,332 (GRCm39) M370R probably benign Het
Rimklb A T 6: 122,440,968 (GRCm39) H68Q probably damaging Het
Rnasel A G 1: 153,630,420 (GRCm39) D312G possibly damaging Het
Rxrg A T 1: 167,426,321 (GRCm39) M1L probably benign Het
Scrn1 A G 6: 54,499,826 (GRCm39) F220L possibly damaging Het
Scyl3 A G 1: 163,778,244 (GRCm39) S461G probably benign Het
Serpina1c T A 12: 103,861,282 (GRCm39) T411S probably benign Het
Serpinb6d C T 13: 33,855,364 (GRCm39) P346L probably benign Het
Shld2 A G 14: 33,989,760 (GRCm39) I382T probably benign Het
Spg21 G T 9: 65,372,618 (GRCm39) V17F probably damaging Het
Spink5 A T 18: 44,132,958 (GRCm39) M525L probably benign Het
Sun2 T C 15: 79,621,764 (GRCm39) T155A probably benign Het
Tchh T A 3: 93,354,087 (GRCm39) F1176I unknown Het
Tex15 T A 8: 34,066,682 (GRCm39) D2037E probably benign Het
Tfdp2 T C 9: 96,199,857 (GRCm39) C392R possibly damaging Het
Tmem30c T C 16: 57,097,143 (GRCm39) N139S probably benign Het
Tns2 C T 15: 102,021,568 (GRCm39) probably null Het
Trim66 T C 7: 109,075,046 (GRCm39) E405G probably damaging Het
Trpc4 T A 3: 54,187,415 (GRCm39) F456I probably benign Het
Tspo2 T C 17: 48,755,818 (GRCm39) D108G possibly damaging Het
Tyk2 A T 9: 21,032,850 (GRCm39) C304* probably null Het
Vgll4 A T 6: 114,839,756 (GRCm39) S185T probably benign Het
Vmn2r94 A C 17: 18,464,732 (GRCm39) S519R probably benign Het
Vmn2r96 T G 17: 18,818,183 (GRCm39) S587A probably benign Het
Vps4b C A 1: 106,706,712 (GRCm39) A287S possibly damaging Het
Yeats2 C T 16: 20,048,314 (GRCm39) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm39) S659A possibly damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp764l1 A C 7: 126,990,660 (GRCm39) D442E probably benign Het
Zswim5 G T 4: 116,734,896 (GRCm39) E80D unknown 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
R1748:Duox2 UTSW 2 122,117,532 (GRCm39) missense probably benign 0.00
R1809:Duox2 UTSW 2 122,114,378 (GRCm39) missense possibly damaging 0.83
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'- AACCTACCCCTCTGGAACTTG -3'
(R):5'- ACATGAATCTTTGGGCCTGAG -3'

Sequencing Primer
(F):5'- CTGGAACTTGTTCCTCTCAAAAGAC -3'
(R):5'- GGTCACTGGAGGACTGAAATTCCC -3'
Posted On 2014-06-23