Mutagenetix > Incidental Mutation

Incidental Mutation 'R2085:Duox2'

230242

Institutional Source

Beutler Lab

Gene Symbol

Duox2

Ensembl Gene

ENSMUSG00000068452

Gene Name

dual oxidase 2

Synonyms

A430065P05Rik

MMRRC Submission

040090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2085 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122111448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1417 (H1417N)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053734]

AlphaFold

A0A494BAW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053734
AA Change: H1417N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: H1417N

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	G	T	11: 69,791,198 (GRCm39)	T127K	possibly damaging	Het
A2m	T	G	6: 121,653,918 (GRCm39)	I1417S	probably damaging	Het
Acad10	A	G	5: 121,787,523 (GRCm39)	I142T	possibly damaging	Het
Adprm	T	A	11: 66,932,678 (GRCm39)	D77V	probably damaging	Het
Apob	C	T	12: 8,062,240 (GRCm39)	T3574I	probably damaging	Het
Bahcc1	A	G	11: 120,178,908 (GRCm39)	K2489R	probably damaging	Het
Bub1b	A	G	2: 118,452,676 (GRCm39)	E443G	possibly damaging	Het
Cd9	A	T	6: 125,440,734 (GRCm39)		probably null	Het
Cgnl1	G	A	9: 71,538,160 (GRCm39)	T1194M	probably damaging	Het
Clec9a	T	C	6: 129,387,274 (GRCm39)	V43A	probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Dpep3	A	G	8: 106,701,346 (GRCm39)	V401A	probably damaging	Het
Efhb	C	T	17: 53,733,937 (GRCm39)		probably null	Het
F2r	T	C	13: 95,741,418 (GRCm39)	N39S	probably benign	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Galt	G	A	4: 41,758,162 (GRCm39)	R309Q	probably damaging	Het
Gas2l2	C	A	11: 83,318,209 (GRCm39)	A167S	probably benign	Het
Hecw1	A	T	13: 14,438,672 (GRCm39)	F904I	possibly damaging	Het
Herc2	C	A	7: 55,862,713 (GRCm39)	H4127Q	possibly damaging	Het
Hipk1	T	C	3: 103,657,670 (GRCm39)	T805A	probably benign	Het
Hivep1	A	G	13: 42,337,226 (GRCm39)	E2435G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep2	C	A	10: 14,015,273 (GRCm39)	C1813*	probably null	Het
Hyal4	C	T	6: 24,755,749 (GRCm39)		probably benign	Het
Inpp4b	A	G	8: 82,678,903 (GRCm39)	Y311C	probably damaging	Het
Itih4	A	G	14: 30,614,280 (GRCm39)	Y410C	possibly damaging	Het
Lama2	A	T	10: 27,080,837 (GRCm39)	C995*	probably null	Het
Lingo4	C	A	3: 94,309,552 (GRCm39)	D163E	probably damaging	Het
Malt1	A	G	18: 65,606,218 (GRCm39)	D642G	probably damaging	Het
Mbd4	T	A	6: 115,825,918 (GRCm39)	M358L	probably benign	Het
Mbd5	T	A	2: 49,169,323 (GRCm39)	F1498Y	possibly damaging	Het
Me1	T	C	9: 86,495,607 (GRCm39)	Q280R	probably damaging	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or13p10	T	C	4: 118,523,301 (GRCm39)	S196P	probably damaging	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5h18	C	T	16: 58,848,232 (GRCm39)	V13I	probably benign	Het
Or8b1c	A	G	9: 38,384,223 (GRCm39)	Y60C	probably damaging	Het
Polr2j	T	C	5: 136,145,625 (GRCm39)	F7L	probably damaging	Het
Ppp1r16a	T	A	15: 76,577,796 (GRCm39)	D303E	probably damaging	Het
Prickle2	T	C	6: 92,353,345 (GRCm39)	E763G	probably damaging	Het
Rdh11	T	C	12: 79,229,556 (GRCm39)	Y239C	possibly damaging	Het
Sdhaf3	A	G	6: 6,956,048 (GRCm39)	R8G	probably benign	Het
Sgk2	T	C	2: 162,854,890 (GRCm39)	S305P	probably damaging	Het
Sptbn2	A	G	19: 4,788,587 (GRCm39)	S1189G	probably benign	Het
Stab2	A	G	10: 86,790,023 (GRCm39)	L581P	probably damaging	Het
Tifab	T	C	13: 56,324,110 (GRCm39)	Q111R	probably damaging	Het
Ubr3	C	T	2: 69,784,108 (GRCm39)	R775C	probably damaging	Het
Usp17lb	T	A	7: 104,489,622 (GRCm39)	Q434L	possibly damaging	Het
Wdr46	G	T	17: 34,160,425 (GRCm39)	E135*	probably null	Het
Zfp318	T	A	17: 46,720,590 (GRCm39)		probably null	Het
Zfp874a	T	A	13: 67,590,967 (GRCm39)	H239L	probably damaging	Het
Zscan29	A	T	2: 121,000,427 (GRCm39)	L60*	probably null	Het

Other mutations in Duox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTTCAGCGCCTTCTGGAAG -3'
(R):5'- GGCTAAGACCAGAACATCGC -3'

Sequencing Primer
(F):5'- CCTTCTGGAAGTGCCTCTCACAG -3'
(R):5'- ACAGGATATCTGAGGCTTCCTAGC -3'

Posted On

2014-09-18