Mutagenetix > Incidental Mutations

Incidental Mutation 'R7529:Nox3'

583229

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

nmf250, het

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3635240-3696261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3671775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 288 (R288S)

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115800]

AlphaFold

Q672J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000115800
AA Change: R288S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: R288S

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ferric_reduct	55	218	5.4e-23	PFAM
Pfam:FAD_binding_6	290	379	1.8e-8	PFAM
Pfam:FAD_binding_8	291	393	1.5e-27	PFAM
Pfam:NAD_binding_6	399	549	1e-34	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes catalyze the transfer of electrons from NADPH to molecular oxygen to produce superoxide and other reactive oxygen species (ROS). The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia, which are crystalline structures of the inner ear involved in the perception of gravity and linear acceleration. In mouse mutations of this gene lead to the absence of otoconia and vestibular dysfunction. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants bilaterally lack otoliths in otherwise normal ears and display impaired swimming ability, motor capabilities, and vestibular responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 128,237,164	K86*	probably null	Het
Ablim3	A	C	18: 61,821,968	S317A	probably benign	Het
Adcy1	T	C	11: 7,139,157	S524P	probably damaging	Het
Agps	C	A	2: 75,832,352	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,954,022	R250S	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atoh8	G	T	6: 72,223,841	D288E	probably benign	Het
B3galt2	A	C	1: 143,646,536	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,270,766	V343I	probably benign	Het
Cage1	T	C	13: 38,025,755	N82S	possibly damaging	Het
Cep350	A	G	1: 155,861,923	S2725P	probably benign	Het
Cfap65	T	C	1: 74,926,610	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,631,758	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,097,434	M382K	probably benign	Het
Dchs2	G	A	3: 83,354,398	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,416,419	N51S	probably damaging	Het
Dnah17	A	G	11: 118,049,866		probably null	Het
Dnal1	A	G	12: 84,131,343	I35V	probably benign	Het
Dtnbp1	A	G	13: 44,931,070	F198S	probably damaging	Het
Edar	A	T	10: 58,612,008	S160T	probably benign	Het
Enpp3	A	T	10: 24,798,174	N409K	probably damaging	Het
Ercc6	T	A	14: 32,560,729	C726*	probably null	Het
Extl2	G	A	3: 116,027,406	V301I	possibly damaging	Het
G2e3	A	G	12: 51,371,604	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Galnt17	A	G	5: 131,306,380	V74A	probably damaging	Het
Ggta1	A	G	2: 35,414,244	W76R	probably damaging	Het
Gm13089	T	C	4: 143,702,674			Het
Gm9573	A	T	17: 35,619,231	S1354R	unknown	Het
Gm9772	T	A	17: 22,007,159	D48V	probably benign	Het
Herpud2	T	C	9: 25,108,897	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,736,334	S53P	possibly damaging	Het
Il23r	T	A	6: 67,490,736	M16L	possibly damaging	Het
Ints1	G	A	5: 139,767,726	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,194,598	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,630,331	V248E	probably damaging	Het
Krtap5-5	A	G	7: 142,229,692	C74R	unknown	Het
Luzp1	G	T	4: 136,540,932	L155F	probably damaging	Het
Mcam	T	C	9: 44,138,895	V209A	probably benign	Het
Med1	G	C	11: 98,155,965	T1335R	unknown	Het
Mroh2b	A	G	15: 4,949,009	I1346V	probably damaging	Het
Mrpl4	C	G	9: 21,007,679	Q201E	probably benign	Het
Mylk2	T	C	2: 152,915,704	L326P	probably damaging	Het
Myot	A	T	18: 44,346,173	R326*	probably null	Het
Nox4	A	T	7: 87,395,768	Y572F	unknown	Het
Olfr1396	A	G	11: 49,112,859	L289P	probably damaging	Het
Olfr1436	A	G	19: 12,298,722	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,474,473	E253*	probably null	Het
Plcb2	T	C	2: 118,710,234	H1052R	probably damaging	Het
Plpp5	A	T	8: 25,724,206	Q250L	probably benign	Het
Plxna2	T	C	1: 194,643,871	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,283,180	K172E	probably benign	Het
Prl8a9	T	A	13: 27,560,528	D110V	probably benign	Het
Prrx1	T	C	1: 163,253,964		probably null	Het
Prss52	T	A	14: 64,109,588	H70Q	probably benign	Het
Rcc1	T	C	4: 132,334,563	T300A	probably benign	Het
Rnf114	T	C	2: 167,507,094	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,298,914	I431T	probably damaging	Het
Rnmt	A	G	18: 68,311,655	M232V	probably benign	Het
Rrs1	A	C	1: 9,546,192	Q223H	probably benign	Het
Scyl3	A	T	1: 163,943,869	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,264,448	T533S	probably benign	Het
Slc26a2	A	G	18: 61,198,358	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,384,482	V260D	possibly damaging	Het
Snrpa	A	C	7: 27,189,453	M174R	probably benign	Het
Ss18l1	C	T	2: 180,058,157	A270V	possibly damaging	Het
Stk19	G	T	17: 34,824,656	Q193K	probably benign	Het
Syne1	T	A	10: 5,424,382	I142L	probably damaging	Het
Tbx2	T	C	11: 85,840,901	S675P	probably benign	Het
Tcaf1	A	G	6: 42,675,355	I731T	probably damaging	Het
Tg	G	T	15: 66,694,768	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,597,948	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Wls	A	T	3: 159,873,007	N69Y	probably benign	Het
Wnk2	A	G	13: 49,100,981	F353L	possibly damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp64	C	T	2: 168,894,072	G562R	probably benign	Het
Zfp663	T	G	2: 165,352,808	E497A	probably damaging	Het
Zfp995	A	T	17: 21,880,352	C300*	probably null	Het

Other mutations in Nox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Nox3	APN	17	3683015	missense	probably damaging	0.99
IGL01135:Nox3	APN	17	3696252	utr 5 prime	probably benign
IGL01791:Nox3	APN	17	3682943	missense	possibly damaging	0.68
IGL02423:Nox3	APN	17	3682916	missense	probably damaging	1.00
IGL03091:Nox3	APN	17	3665844	missense	probably benign	0.42
R0046:Nox3	UTSW	17	3682961	missense	probably benign	0.08
R0046:Nox3	UTSW	17	3682961	missense	probably benign	0.08
R0085:Nox3	UTSW	17	3635281	missense	probably benign	0.14
R0426:Nox3	UTSW	17	3695563	missense	probably damaging	1.00
R0690:Nox3	UTSW	17	3695564	missense	probably damaging	1.00
R1281:Nox3	UTSW	17	3696185	missense	probably damaging	1.00
R1350:Nox3	UTSW	17	3650121	missense	probably damaging	1.00
R1843:Nox3	UTSW	17	3669878	missense	probably damaging	1.00
R1902:Nox3	UTSW	17	3670017	missense	probably damaging	1.00
R2023:Nox3	UTSW	17	3694021	splice site	probably benign
R2762:Nox3	UTSW	17	3696158	missense	probably benign	0.35
R2872:Nox3	UTSW	17	3682916	missense	probably damaging	1.00
R2872:Nox3	UTSW	17	3682916	missense	probably damaging	1.00
R4429:Nox3	UTSW	17	3682958	missense	probably benign	0.05
R4630:Nox3	UTSW	17	3693982	missense	possibly damaging	0.53
R4926:Nox3	UTSW	17	3669894	missense	probably damaging	1.00
R4928:Nox3	UTSW	17	3635275	missense	probably null	1.00
R5181:Nox3	UTSW	17	3635286	nonsense	probably null
R6911:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R6912:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R7486:Nox3	UTSW	17	3669944	missense	probably damaging	1.00
R8355:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R8357:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R8455:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R8457:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R9028:Nox3	UTSW	17	3665910	missense	possibly damaging	0.62
R9128:Nox3	UTSW	17	3669861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACTGAAAGATGCTCCCG -3'
(R):5'- GGAAATATCTTAGTCCCGTCATGC -3'

Sequencing Primer
(F):5'- GCTCCCGATACAAGCAATTATTAG -3'
(R):5'- CTTAGTCCCGTCATGCTATATATTG -3'

Posted On

2019-10-17