Incidental Mutation 'R4675:Duox2'
ID 349469
Institutional Source Beutler Lab
Gene Symbol Duox2
Ensembl Gene ENSMUSG00000068452
Gene Name dual oxidase 2
Synonyms A430065P05Rik
MMRRC Submission 041930-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4675 (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 122111414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1428 (D1428G)
Ref Sequence ENSEMBL: ENSMUSP00000050314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053734]
AlphaFold A0A494BAW1
Predicted Effect probably damaging
Transcript: ENSMUST00000053734
AA Change: D1428G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: D1428G

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
Meta Mutation Damage Score 0.6844 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (89/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C A 17: 36,203,820 (GRCm39) K291N probably damaging Het
Adgra1 A G 7: 139,456,102 (GRCm39) T577A probably damaging Het
Akip1 T A 7: 109,308,188 (GRCm39) I152N possibly damaging Het
Armc9 A G 1: 86,130,240 (GRCm39) Y8C probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Atp2a3 A T 11: 72,872,623 (GRCm39) T724S probably damaging Het
Bmp1 C A 14: 70,730,284 (GRCm39) R416L probably damaging Het
Bmt2 G T 6: 13,663,300 (GRCm39) A66E probably benign Het
Bscl2 A T 19: 8,825,523 (GRCm39) D403V possibly damaging Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Cdhr18 A T 14: 13,856,724 (GRCm38) D462E probably benign Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Cntnap4 A G 8: 113,512,468 (GRCm39) Y610C probably damaging Het
Col11a2 T C 17: 34,283,267 (GRCm39) probably null Het
Col17a1 T C 19: 47,651,497 (GRCm39) probably null Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Dgkz T A 2: 91,768,691 (GRCm39) K697* probably null Het
Dnah7b T A 1: 46,256,317 (GRCm39) D1873E possibly damaging Het
Dst G A 1: 34,314,784 (GRCm39) E6472K possibly damaging Het
Elmod2 T C 8: 84,043,537 (GRCm39) N210S probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fbn2 T A 18: 58,173,265 (GRCm39) N2051I possibly damaging Het
Gabrg2 G A 11: 41,859,650 (GRCm39) H201Y probably damaging Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gjd4 A G 18: 9,280,578 (GRCm39) S167P probably damaging Het
Heatr5a T C 12: 51,924,130 (GRCm39) N2028D probably benign Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Herc1 T C 9: 66,298,740 (GRCm39) S625P probably damaging Het
Ighv1-55 T C 12: 115,172,175 (GRCm39) probably benign Het
Ighv5-8 G A 12: 113,618,777 (GRCm39) S64N probably benign Het
Itga1 G T 13: 115,138,227 (GRCm39) probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Ksr1 G A 11: 78,965,186 (GRCm39) P118S possibly damaging Het
Lat2 T C 5: 134,634,911 (GRCm39) N100S probably damaging Het
Lrit3 T A 3: 129,582,121 (GRCm39) D501V probably damaging Het
Lrrfip1 T A 1: 91,031,042 (GRCm39) probably null Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Med21 T A 6: 146,551,691 (GRCm39) L114H probably damaging Het
Mfap4 A T 11: 61,376,336 (GRCm39) probably benign Het
Mpdz G A 4: 81,302,049 (GRCm39) R233W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncapd3 T C 9: 27,006,038 (GRCm39) probably benign Het
Neto2 T G 8: 86,396,333 (GRCm39) H104P probably damaging Het
Nr1h2 T C 7: 44,201,979 (GRCm39) T36A possibly damaging Het
Nudt16l2 T C 9: 105,021,647 (GRCm39) D133G probably benign Het
Or13a20 A T 7: 140,232,074 (GRCm39) M61L probably damaging Het
Or4a79 T C 2: 89,551,838 (GRCm39) I206V probably benign Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or51g2 A G 7: 102,623,013 (GRCm39) M62T probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5p52 A G 7: 107,502,567 (GRCm39) I214M probably damaging Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Or8b4 T C 9: 37,830,882 (GRCm39) *310R probably null Het
Pcbp3 A G 10: 76,606,869 (GRCm39) L241S possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Podxl G A 6: 31,503,579 (GRCm39) T254M possibly damaging Het
Prr27 A C 5: 87,991,100 (GRCm39) E237D possibly damaging Het
Rdh16 G T 10: 127,637,316 (GRCm39) V84F probably damaging Het
Rnf26 A T 9: 44,023,428 (GRCm39) D273E probably benign Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rpl3l A G 17: 24,952,584 (GRCm39) K239E probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Ryk A G 9: 102,768,415 (GRCm39) D352G possibly damaging Het
Setd1b T A 5: 123,299,061 (GRCm39) probably benign Het
Sh2b1 G A 7: 126,070,618 (GRCm39) A361V possibly damaging Het
Slc35f3 A T 8: 127,047,935 (GRCm39) K92* probably null Het
Slc39a10 A G 1: 46,857,144 (GRCm39) probably benign Het
Slc47a1 G A 11: 61,253,857 (GRCm39) T194I probably benign Het
Slc6a3 C A 13: 73,692,936 (GRCm39) N185K probably damaging Het
Stag1 T C 9: 100,730,758 (GRCm39) V391A probably damaging Het
Syne2 A C 12: 75,996,075 (GRCm39) N2206T probably damaging Het
Tbc1d23 C A 16: 57,003,325 (GRCm39) R481I possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tfam A G 10: 71,069,225 (GRCm39) S166P probably benign Het
Tmem63a A G 1: 180,784,056 (GRCm39) H212R probably benign Het
Txndc11 T A 16: 10,902,745 (GRCm39) Q634L possibly damaging Het
Usp31 T C 7: 121,306,548 (GRCm39) probably benign Het
Vmn1r204 A T 13: 22,740,962 (GRCm39) M198L probably damaging Het
Vmn2r17 A T 5: 109,575,049 (GRCm39) T119S probably benign Het
Vsig1 A G X: 139,833,861 (GRCm39) D227G probably damaging Het
Zfhx2 G A 14: 55,304,678 (GRCm39) P1102L probably benign Het
Zfp715 T C 7: 42,949,444 (GRCm39) Q172R probably benign Het
Zfp872 A G 9: 22,108,701 (GRCm39) D53G probably damaging Het
Zswim8 G A 14: 20,764,681 (GRCm39) D684N probably benign 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
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'- ACCTGTGGATGGACTTCCTG -3'
(R):5'- CCTAGCATCTCAGAATGTAGGGAG -3'

Sequencing Primer
(F):5'- ATGGACTTCCTGTAGAGAGTTGAAG -3'
(R):5'- GGAGCCAGACCTGAGCTG -3'
Posted On 2015-10-08