Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Duox2'

654143

Institutional Source

Beutler Lab

Gene Symbol

Duox2

Ensembl Gene

ENSMUSG00000068452

Gene Name

dual oxidase 2

Synonyms

A430065P05Rik

MMRRC Submission

067883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122128636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 4 (T4K)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028656] [ENSMUST00000053734] [ENSMUST00000110538]

AlphaFold

A0A494BAW1

Predicted Effect

probably benign
Transcript: ENSMUST00000028656

SMART Domains

Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225

Domain	Start	End	E-Value	Type
Pfam:DuoxA	10	286	5.5e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053734
AA Change: T4K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: T4K

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

probably benign
Transcript: ENSMUST00000110538

SMART Domains

Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224

Domain	Start	End	E-Value	Type
Pfam:DuoxA	9	70	1.7e-23	PFAM
Pfam:DuoxA	67	245	2.4e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,841,995 (GRCm39)	T1043S	probably benign	Het
Acadvl	T	A	11: 69,902,554 (GRCm39)	K410*	probably null	Het
Adam8	C	T	7: 139,567,762 (GRCm39)	G354D	probably benign	Het
Ahctf1	T	C	1: 179,590,175 (GRCm39)	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,165,415 (GRCm39)	Q949K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Ccdc141	T	A	2: 76,889,894 (GRCm39)	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,314,972 (GRCm39)	Q185K	probably benign	Het
Dlx2	A	T	2: 71,375,882 (GRCm39)	I147K	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,349 (GRCm39)	D110E	probably damaging	Het
Dnaaf9	A	G	2: 130,612,621 (GRCm39)	L482S	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dock7	C	A	4: 98,971,266 (GRCm39)	V100F		Het
Dspp	C	A	5: 104,325,162 (GRCm39)	D508E	unknown	Het
Ear1	T	C	14: 44,056,704 (GRCm39)	N55D	probably damaging	Het
Echdc1	G	C	10: 29,210,242 (GRCm39)	E179Q	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,319,798 (GRCm39)	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,514,271 (GRCm39)	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,101,381 (GRCm39)	R398G	unknown	Het
Fsip2	G	A	2: 82,807,430 (GRCm39)	D1250N	probably benign	Het
Gdnf	G	T	15: 7,864,134 (GRCm39)	E182*	probably null	Het
Gys2	T	C	6: 142,406,921 (GRCm39)	H145R	probably benign	Het
Hcls1	A	G	16: 36,767,003 (GRCm39)	K69R	probably benign	Het
Itih5	A	G	2: 10,239,869 (GRCm39)	N332S	probably benign	Het
Kcnb2	T	A	1: 15,382,934 (GRCm39)	Y87N	probably damaging	Het
Lrriq3	A	G	3: 154,893,873 (GRCm39)	N525D	probably damaging	Het
Lsg1	A	T	16: 30,380,569 (GRCm39)	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,158 (GRCm39)	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814 (GRCm39)	Y81H	probably damaging	Het
Nup54	T	G	5: 92,573,605 (GRCm39)	N199T	probably benign	Het
Or2h1	A	G	17: 37,404,664 (GRCm39)	L34P	probably damaging	Het
Or4c126	C	T	2: 89,824,348 (GRCm39)	L204F	probably benign	Het
Or4k15	T	C	14: 50,364,604 (GRCm39)	I190T	probably benign	Het
Or5w13	A	T	2: 87,524,088 (GRCm39)	I46N	probably damaging	Het
Or7d9	T	A	9: 20,197,337 (GRCm39)	L122*	probably null	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462 (GRCm39)	F13L	possibly damaging	Het
Plcb1	T	C	2: 135,091,972 (GRCm39)		probably null	Het
Ppfibp1	T	C	6: 146,902,448 (GRCm39)	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,102,036 (GRCm39)	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,863,013 (GRCm39)	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,797,053 (GRCm39)	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,560,149 (GRCm39)	M151I	probably benign	Het
Tarm1	G	T	7: 3,546,037 (GRCm39)	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,832,540 (GRCm39)	I47T	probably damaging	Het
Tmod3	T	C	9: 75,436,680 (GRCm39)	D85G	probably damaging	Het
Trbv14	T	C	6: 41,112,299 (GRCm39)	L32P	probably benign	Het
Trim16	T	C	11: 62,741,414 (GRCm39)	L486P	probably benign	Het
Trmt1l	T	G	1: 151,325,727 (GRCm39)	S391A	probably benign	Het
Ush2a	T	A	1: 188,582,254 (GRCm39)	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 21,066,870 (GRCm39)	A20S	probably benign	Het
Wdr76	A	G	2: 121,341,179 (GRCm39)	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,230,102 (GRCm39)	L141S	probably benign	Het
Zfp988	A	G	4: 147,416,808 (GRCm39)	D414G	probably benign	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
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
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'- TGCCAATGAACGCCATCTC -3'
(R):5'- CATCAGACAGGGTTAGGGTG -3'

Sequencing Primer
(F):5'- GCGGTCAGAAGTCTTCCAACTC -3'
(R):5'- TGGCAGACGGTCTTAATGCCAG -3'

Posted On

2020-10-20