Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Duox2'

616237

Institutional Source

Beutler Lab

Gene Symbol

Duox2

Ensembl Gene

ENSMUSG00000068452

Gene Name

dual oxidase 2

Synonyms

A430065P05Rik

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122113948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1195 (V1195I)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

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

AlphaFold

A0A494BAW1

Predicted Effect

probably benign
Transcript: ENSMUST00000053734
AA Change: V1195I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: V1195I

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: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	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
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'- TCTGATGGGCCAGCATAGAC -3'
(R):5'- TATTCTGAAGCCCTGAAGGAATAGAG -3'

Sequencing Primer
(F):5'- TGGGCCAGCATAGACACCAG -3'
(R):5'- ATGTCCTGTTGTATTTTCAGCTCAG -3'

Posted On

2020-01-23