Incidental Mutation 'IGL02276:Duox2'
ID 287328
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02276
Quality Score
Status
Chromosome 2
Chromosomal Location 122109728-122128930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122124566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 380 (N380K)
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: N380K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: N380K

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,386,697 (GRCm39) V1140A probably damaging Het
Ccdc88b A G 19: 6,833,475 (GRCm39) probably null Het
Cep135 A G 5: 76,782,093 (GRCm39) N904S probably benign Het
Dnajc12 G A 10: 63,244,037 (GRCm39) R109Q probably damaging Het
Dpp4 A G 2: 62,187,295 (GRCm39) probably benign Het
Dusp11 A T 6: 85,935,599 (GRCm39) D91E probably damaging Het
Fkbp15 C A 4: 62,254,703 (GRCm39) E266* probably null Het
Gm10337 A G 15: 102,412,169 (GRCm39) V324A probably damaging Het
Grik3 A T 4: 125,517,295 (GRCm39) D46V possibly damaging Het
Hdac9 G A 12: 34,481,925 (GRCm39) T181I probably damaging Het
Iigp1c A T 18: 60,379,151 (GRCm39) I229F probably damaging Het
Large1 T A 8: 73,544,721 (GRCm39) M686L probably benign Het
Lca5 C A 9: 83,280,638 (GRCm39) L387F possibly damaging Het
Mtmr9 A T 14: 63,767,725 (GRCm39) W295R probably damaging Het
Or2h15 A G 17: 38,441,484 (GRCm39) S200P probably damaging Het
Or5ac15 A C 16: 58,940,378 (GRCm39) D18E probably benign Het
Phf20l1 T A 15: 66,487,259 (GRCm39) probably null Het
Plce1 A G 19: 38,513,201 (GRCm39) S167G probably benign Het
Plekha6 C A 1: 133,221,599 (GRCm39) D934E possibly damaging Het
Pramel17 T C 4: 101,695,306 (GRCm39) S2G possibly damaging Het
Ptpn6 A C 6: 124,705,828 (GRCm39) D105E probably null Het
Rtp1 T C 16: 23,250,063 (GRCm39) S143P probably benign Het
Rttn A C 18: 89,066,578 (GRCm39) Q1208P possibly damaging Het
Snx27 A T 3: 94,438,686 (GRCm39) V183D probably damaging Het
Stim2 T C 5: 54,210,712 (GRCm39) probably benign Het
Trak1 A T 9: 121,280,734 (GRCm39) E271D probably damaging Het
Ttn A T 2: 76,774,226 (GRCm39) probably benign Het
Vmn2r4 G A 3: 64,313,877 (GRCm39) T279I possibly damaging Het
Vmn2r73 A T 7: 85,518,980 (GRCm39) probably null Het
Zfp819 G A 7: 43,261,428 (GRCm39) V32I 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
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
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
Posted On 2015-04-16