Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Nox3'

253952

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

het, nmf250

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3685515-3746536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3733191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 240 (H240R)

Gene Model

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

AlphaFold

Q672J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000024565
AA Change: H240R

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

SMART Domains

Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: H240R

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:Ferric_reduct	75	238	8.6e-28	PFAM
Pfam:FAD_binding_8	311	413	4.1e-26	PFAM
Pfam:NAD_binding_6	419	569	1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115800
AA Change: H220R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: H220R

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

0.8864

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het

Other mutations in Nox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Nox3	APN	17	3,733,290 (GRCm39)	missense	probably damaging	0.99
IGL01135:Nox3	APN	17	3,746,527 (GRCm39)	utr 5 prime	probably benign
IGL01791:Nox3	APN	17	3,733,218 (GRCm39)	missense	possibly damaging	0.68
IGL02423:Nox3	APN	17	3,733,191 (GRCm39)	missense	probably damaging	1.00
IGL03091:Nox3	APN	17	3,716,119 (GRCm39)	missense	probably benign	0.42
R0046:Nox3	UTSW	17	3,733,236 (GRCm39)	missense	probably benign	0.08
R0046:Nox3	UTSW	17	3,733,236 (GRCm39)	missense	probably benign	0.08
R0085:Nox3	UTSW	17	3,685,556 (GRCm39)	missense	probably benign	0.14
R0426:Nox3	UTSW	17	3,745,838 (GRCm39)	missense	probably damaging	1.00
R0690:Nox3	UTSW	17	3,745,839 (GRCm39)	missense	probably damaging	1.00
R1281:Nox3	UTSW	17	3,746,460 (GRCm39)	missense	probably damaging	1.00
R1350:Nox3	UTSW	17	3,700,396 (GRCm39)	missense	probably damaging	1.00
R1843:Nox3	UTSW	17	3,720,153 (GRCm39)	missense	probably damaging	1.00
R1902:Nox3	UTSW	17	3,720,292 (GRCm39)	missense	probably damaging	1.00
R2023:Nox3	UTSW	17	3,744,296 (GRCm39)	splice site	probably benign
R2762:Nox3	UTSW	17	3,746,433 (GRCm39)	missense	probably benign	0.35
R2872:Nox3	UTSW	17	3,733,191 (GRCm39)	missense	probably damaging	1.00
R4429:Nox3	UTSW	17	3,733,233 (GRCm39)	missense	probably benign	0.05
R4630:Nox3	UTSW	17	3,744,257 (GRCm39)	missense	possibly damaging	0.53
R4926:Nox3	UTSW	17	3,720,169 (GRCm39)	missense	probably damaging	1.00
R4928:Nox3	UTSW	17	3,685,550 (GRCm39)	missense	probably null	1.00
R5181:Nox3	UTSW	17	3,685,561 (GRCm39)	nonsense	probably null
R6911:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R6912:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R7486:Nox3	UTSW	17	3,720,219 (GRCm39)	missense	probably damaging	1.00
R7529:Nox3	UTSW	17	3,722,050 (GRCm39)	missense	probably damaging	0.99
R8355:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8357:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8455:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8457:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R9028:Nox3	UTSW	17	3,716,185 (GRCm39)	missense	possibly damaging	0.62
R9128:Nox3	UTSW	17	3,720,136 (GRCm39)	missense	probably damaging	1.00
R9581:Nox3	UTSW	17	3,700,328 (GRCm39)	missense	possibly damaging	0.95
R9780:Nox3	UTSW	17	3,736,260 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCATTGGCAAGGTTGTAACTGG -3'
(R):5'- GCACAACCACTGAGCTATTGATG -3'

Sequencing Primer
(F):5'- TACAGCCATTAAGGAAATAAGTGTG -3'
(R):5'- CCACTGAGCTATTGATGACAGTGTC -3'

Posted On

2014-12-04