Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Nrros'

160261

Institutional Source

Beutler Lab

Gene Symbol

Nrros

Ensembl Gene

ENSMUSG00000052384

Gene Name

negative regulator of reactive oxygen species

Synonyms

Lrrc33, E430025L02Rik

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1398 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

32142785-32165594 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32143144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 649 (I649N)

Ref Sequence

ENSEMBL: ENSMUSP00000155965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099991] [ENSMUST00000115163] [ENSMUST00000115165] [ENSMUST00000126869] [ENSMUST00000130410] [ENSMUST00000143682] [ENSMUST00000144345] [ENSMUST00000231836]

AlphaFold

Q8BMT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099991
AA Change: I657N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
AA Change: I657N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	31	61	1.05e1	SMART
LRR	80	103	1.01e2	SMART
LRR	131	155	5.27e1	SMART
LRR	156	179	4.05e-1	SMART
LRR_TYP	180	203	7.67e-2	SMART
LRR	204	227	1.49e1	SMART
LRR_TYP	327	350	1.67e-2	SMART
LRR	376	400	3.27e1	SMART
LRR_TYP	401	424	1.79e-2	SMART
LRR	461	484	1.45e1	SMART
LRR	535	556	1.76e1	SMART
LRR	559	580	3.36e1	SMART
transmembrane domain	653	675	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115163
AA Change: I685N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: I685N

Domain	Start	End	E-Value	Type
LRRNT	59	89	1.05e1	SMART
LRR	108	131	1.01e2	SMART
LRR	159	183	5.27e1	SMART
LRR	184	207	4.05e-1	SMART
LRR_TYP	208	231	7.67e-2	SMART
LRR	232	255	1.49e1	SMART
LRR_TYP	355	378	1.67e-2	SMART
LRR	404	428	3.27e1	SMART
LRR_TYP	429	452	1.79e-2	SMART
LRR	489	512	1.45e1	SMART
LRR	563	584	1.76e1	SMART
LRR	587	608	3.36e1	SMART
transmembrane domain	681	703	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115165
AA Change: I633N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
AA Change: I633N

Domain	Start	End	E-Value	Type
Blast:LRRNT	8	37	5e-8	BLAST
LRR	56	79	1.01e2	SMART
LRR	107	131	5.27e1	SMART
LRR	132	155	4.05e-1	SMART
LRR_TYP	156	179	7.67e-2	SMART
LRR	180	203	1.49e1	SMART
LRR_TYP	303	326	1.67e-2	SMART
LRR	352	376	3.27e1	SMART
LRR_TYP	377	400	1.79e-2	SMART
LRR	437	460	1.45e1	SMART
LRR	511	532	1.76e1	SMART
LRR	535	556	3.36e1	SMART
transmembrane domain	629	651	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126869
AA Change: I657N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116388
Gene: ENSMUSG00000052384
AA Change: I657N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	31	61	1.05e1	SMART
LRR	80	103	1.01e2	SMART
LRR	131	155	5.27e1	SMART
LRR	156	179	4.05e-1	SMART
LRR_TYP	180	203	7.67e-2	SMART
LRR	204	227	1.49e1	SMART
LRR_TYP	327	350	1.67e-2	SMART
LRR	376	400	3.27e1	SMART
LRR_TYP	401	424	1.79e-2	SMART
LRR	461	484	1.45e1	SMART
LRR	535	556	1.76e1	SMART
LRR	559	580	3.36e1	SMART
transmembrane domain	653	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127287

Predicted Effect

probably benign
Transcript: ENSMUST00000130410

SMART Domains

Protein: ENSMUSP00000122290
Gene: ENSMUSG00000052384

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	31	61	1.05e1	SMART
Pfam:LRR_7	81	97	1.9e-2	PFAM
Pfam:LRR_7	105	121	6.8e-2	PFAM
Pfam:LRR_7	133	144	2e-1	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136809

Predicted Effect

probably damaging
Transcript: ENSMUST00000143682
AA Change: I657N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
AA Change: I657N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	31	61	1.05e1	SMART
LRR	80	103	1.01e2	SMART
LRR	131	155	5.27e1	SMART
LRR	156	179	4.05e-1	SMART
LRR_TYP	180	203	7.67e-2	SMART
LRR	204	227	1.49e1	SMART
LRR_TYP	327	350	1.67e-2	SMART
LRR	376	400	3.27e1	SMART
LRR_TYP	401	424	1.79e-2	SMART
LRR	461	484	1.45e1	SMART
LRR	535	556	1.76e1	SMART
LRR	559	580	3.36e1	SMART
transmembrane domain	653	675	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144345

SMART Domains

Protein: ENSMUSP00000121492
Gene: ENSMUSG00000052384

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	31	61	1.05e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150250

Predicted Effect

probably damaging
Transcript: ENSMUST00000231836
AA Change: I649N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.0954

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to increased oxidative stress and susceptibility to experimental autoimmune encephalomyelitis, but to reduced susceptibility to bacterial infections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in Nrros

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Nrros	APN	16	32147620	missense	probably benign	0.06
IGL01097:Nrros	APN	16	32144185	missense	possibly damaging	0.71
IGL02065:Nrros	APN	16	32144674	missense	possibly damaging	0.84
IGL03372:Nrros	APN	16	32144770	missense	probably damaging	1.00
R0615:Nrros	UTSW	16	32144085	missense	probably damaging	1.00
R0669:Nrros	UTSW	16	32143423	missense	probably damaging	1.00
R0840:Nrros	UTSW	16	32143423	missense	probably damaging	1.00
R1796:Nrros	UTSW	16	32143511	missense	probably damaging	1.00
R2031:Nrros	UTSW	16	32144157	nonsense	probably null
R2033:Nrros	UTSW	16	32144157	nonsense	probably null
R2034:Nrros	UTSW	16	32144157	nonsense	probably null
R2087:Nrros	UTSW	16	32144157	nonsense	probably null
R2089:Nrros	UTSW	16	32144157	nonsense	probably null
R2090:Nrros	UTSW	16	32144157	nonsense	probably null
R2091:Nrros	UTSW	16	32144157	nonsense	probably null
R2091:Nrros	UTSW	16	32144157	nonsense	probably null
R2151:Nrros	UTSW	16	32143258	missense	probably benign	0.11
R2438:Nrros	UTSW	16	32144111	splice site	probably null
R2438:Nrros	UTSW	16	32144299	missense	probably benign	0.25
R5474:Nrros	UTSW	16	32144352	missense	probably benign	0.00
R5527:Nrros	UTSW	16	32144470	missense	probably damaging	1.00
R5629:Nrros	UTSW	16	32144405	missense	probably damaging	1.00
R5888:Nrros	UTSW	16	32143087	missense	probably benign	0.15
R5939:Nrros	UTSW	16	32143454	missense	probably benign	0.01
R5982:Nrros	UTSW	16	32144593	missense	probably damaging	0.96
R6869:Nrros	UTSW	16	32144431	missense	probably damaging	1.00
R6912:Nrros	UTSW	16	32162239	missense	probably null	0.01
R7010:Nrros	UTSW	16	32143580	missense	probably damaging	0.96
R7469:Nrros	UTSW	16	32144212	missense	probably benign	0.14
R7673:Nrros	UTSW	16	32162281	missense	unknown
R7770:Nrros	UTSW	16	32143528	missense	probably benign	0.01
R7948:Nrros	UTSW	16	32162258	missense	unknown
R8375:Nrros	UTSW	16	32147638	missense	probably damaging	1.00
R8702:Nrros	UTSW	16	32147771	intron	probably benign
R9740:Nrros	UTSW	16	32144849	missense	possibly damaging	0.95
X0022:Nrros	UTSW	16	32143040	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATCAGACTGTCACCCTTAGCCTGC -3'
(R):5'- CTCAGCCAGAACCCTTATGACTGC -3'

Sequencing Primer
(F):5'- ACCCTTAGCCTGCATGGATG -3'
(R):5'- CCTTATGACTGCTGTGGGGTG -3'

Posted On

2014-03-14