Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Duox2'

542656

Institutional Source

Beutler Lab

Gene Symbol

Duox2

Ensembl Gene

ENSMUSG00000068452

Gene Name

dual oxidase 2

Synonyms

A430065P05Rik

MMRRC Submission

045089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122121708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 662 (V662A)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

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

AlphaFold

A0A494BAW1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053734
AA Change: V662A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: V662A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,184,544 (GRCm39)		probably benign	Het
5031439G07Rik	A	C	15: 84,833,798 (GRCm39)	Y419*	probably null	Het
Abca2	T	A	2: 25,334,151 (GRCm39)	F1809L	probably damaging	Het
Ache	C	T	5: 137,289,940 (GRCm39)	T423I	probably benign	Het
Acvrl1	A	G	15: 101,036,226 (GRCm39)	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,127,741 (GRCm39)	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,761,533 (GRCm39)	Q263P	unknown	Het
Asgr2	C	T	11: 69,987,636 (GRCm39)	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,222,389 (GRCm39)	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Car8	A	T	4: 8,185,650 (GRCm39)		probably null	Het
Carns1	T	C	19: 4,220,081 (GRCm39)	T385A	probably benign	Het
Ccdc47	T	C	11: 106,093,563 (GRCm39)	T41A	probably benign	Het
Ccne1	A	T	7: 37,797,998 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,439,297 (GRCm39)	T148I	probably benign	Het
Cep85	C	T	4: 133,879,572 (GRCm39)	R392Q	probably damaging	Het
Ces1h	T	C	8: 94,080,123 (GRCm39)	T464A	unknown	Het
Cfl1	T	A	19: 5,542,644 (GRCm39)	S41R	possibly damaging	Het
Crnn	T	C	3: 93,055,442 (GRCm39)	V76A	probably damaging	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Dgkh	A	T	14: 78,865,182 (GRCm39)	C53*	probably null	Het
Dhx34	G	T	7: 15,949,255 (GRCm39)	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,362,697 (GRCm39)	N201K	probably benign	Het
Dnah6	T	C	6: 72,998,161 (GRCm39)	E4087G	probably benign	Het
Dock6	T	C	9: 21,756,846 (GRCm39)	Y134C	probably damaging	Het
Dusp12	A	G	1: 170,708,530 (GRCm39)	F12L	probably damaging	Het
Eppk1	T	C	15: 75,995,237 (GRCm39)	E548G	probably benign	Het
Foxj2	A	G	6: 122,819,798 (GRCm39)	D562G	probably benign	Het
Foxj2	A	G	6: 122,805,403 (GRCm39)	I92V	probably damaging	Het
Gm17728	A	G	17: 9,640,991 (GRCm39)	R34G	probably damaging	Het
Gpc6	T	C	14: 117,861,960 (GRCm39)	I292T	probably damaging	Het
Gpr15	T	A	16: 58,538,548 (GRCm39)	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,412,776 (GRCm39)		probably benign	Het
H2ac12	A	G	13: 22,219,719 (GRCm39)	S2P	probably benign	Het
Hps3	T	A	3: 20,076,984 (GRCm39)	T393S	probably damaging	Het
Hspa1a	A	T	17: 35,189,267 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,257,704 (GRCm39)	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,646,298 (GRCm39)	L102P	probably damaging	Het
Itga5	T	A	15: 103,258,653 (GRCm39)	N814I	probably benign	Het
Kcnb2	T	C	1: 15,780,480 (GRCm39)	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030 (GRCm39)	I112L	probably damaging	Het
Knstrn	T	G	2: 118,664,575 (GRCm39)	I47R	possibly damaging	Het
Med23	T	A	10: 24,771,722 (GRCm39)	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,318,588 (GRCm39)	T361I	probably damaging	Het
Nipal3	A	G	4: 135,206,858 (GRCm39)	V112A	probably damaging	Het
Or10a5	T	A	7: 106,635,956 (GRCm39)	V198D	possibly damaging	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or4k41	T	C	2: 111,279,697 (GRCm39)	F71L	probably benign	Het
Or5g27	A	G	2: 85,409,825 (GRCm39)	M81V	probably benign	Het
Paxip1	G	A	5: 27,970,766 (GRCm39)	Q528*	probably null	Het
Proser2	T	C	2: 6,118,801 (GRCm39)	D14G	probably damaging	Het
Rp1	T	G	1: 4,415,878 (GRCm39)	I1745L	probably benign	Het
Rxfp2	G	T	5: 149,972,313 (GRCm39)		probably null	Het
Slc45a1	T	C	4: 150,723,051 (GRCm39)	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,823,179 (GRCm39)	I455T	possibly damaging	Het
Speg	T	C	1: 75,407,557 (GRCm39)	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,574,059 (GRCm39)	A51D	probably damaging	Het
Tecrl	T	C	5: 83,502,768 (GRCm39)	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,468,508 (GRCm39)	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,828,976 (GRCm39)	V58A	possibly damaging	Het
Ttn	A	G	2: 76,691,521 (GRCm39)		probably benign	Het
Ubqln5	A	G	7: 103,777,808 (GRCm39)	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,300,473 (GRCm39)	I50L	probably benign	Het
Vmn2r103	A	T	17: 20,013,739 (GRCm39)	Y177F	probably benign	Het
Zfp28	C	A	7: 6,397,692 (GRCm39)	T709K	probably damaging	Het
Zfp958	A	G	8: 4,676,170 (GRCm39)	N46S	probably benign	Het
Zyx	T	A	6: 42,327,291 (GRCm39)	V30E	unknown	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
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
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'- GCTGTACCAGGTCATACTCC -3'
(R):5'- GAAACAACCAGCCAGTGATG -3'

Sequencing Primer
(F):5'- CAGGTCATACTCCTTGGGGATC -3'
(R):5'- CAGCCAGTGATGGGGTAC -3'

Posted On

2018-11-28