Incidental Mutation 'R4931:Duox2'
ID 380541
Institutional Source Beutler Lab
Gene Symbol Duox2
Ensembl Gene ENSMUSG00000068452
Gene Name dual oxidase 2
Synonyms A430065P05Rik
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122109728-122128930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122127236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 147 (N147S)
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: N147S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: N147S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably 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
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
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'- AGCTCCTCAGAGTGTCACTC -3'
(R):5'- GGCCTCTGTGTCCTGATAATTC -3'

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