Mutagenetix > Incidental Mutations

Incidental Mutation 'R0840:Nrros'

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77142

Institutional Source

Beutler Lab

Gene Symbol

Nrros

Ensembl Gene

ENSMUSG00000052384

Gene Name

negative regulator of reactive oxygen species

Synonyms

Lrrc33, E430025L02Rik

MMRRC Submission

039019-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32142785-32165594 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32143423 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 556 (D556G)

Ref Sequence

ENSEMBL: ENSMUSP00000155965 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099991
AA Change: D564G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
AA Change: D564G

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: D592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: D592G

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: D540G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
AA Change: D540G

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: D564G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116388
Gene: ENSMUSG00000052384
AA Change: D564G

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: D564G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
AA Change: D564G

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: D556G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5910

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810020O05Rik	G	T	6: 87,680,278		noncoding transcript	Het
2700049A03Rik	C	G	12: 71,158,883	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688	T234A	probably benign	Het
Acot5	G	A	12: 84,075,840	W399*	probably null	Het
Adra1a	A	G	14: 66,727,710	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315	D948E	probably benign	Het
Clcn3	C	A	8: 60,929,154	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485	N79K	probably benign	Het
Ep300	A	T	15: 81,644,933	N1558I	unknown	Het
Fblim1	A	G	4: 141,581,009	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181		probably benign	Het
Foxl2	A	T	9: 98,955,931	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684	M1K	probably null	Het
Krt32	G	A	11: 100,081,242	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112	H895Q	probably benign	Het
Nrxn3	A	G	12: 90,331,793	S1367G	possibly damaging	Het
Olfr129	A	G	17: 38,055,572	F7S	probably benign	Het
Olfr504	A	T	7: 108,565,616	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701		probably null	Het
Pgap2	A	T	7: 102,237,448	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284		probably benign	Het
Prpf39	T	G	12: 65,048,206	N219K	probably benign	Het
Rnf17	T	A	14: 56,475,447	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436		probably benign	Het
Stx1a	T	A	5: 135,041,234		probably benign	Het
Tenm3	C	A	8: 48,335,742	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049	S36F	probably damaging	Het
Trim5	A	T	7: 104,265,771	W364R	probably damaging	Het
Ttn	T	C	2: 76,786,811	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,803,457	S145T	possibly damaging	Het
Zfp882	T	A	8: 71,914,686	C452*	probably null	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
R1398:Nrros	UTSW	16	32143144	missense	probably damaging	0.98
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
X0022:Nrros	UTSW	16	32143040	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AAGAGACCAGTGTCCACCTGTTCC -3'
(R):5'- AGGCATTACAAGACTGCCCGTTC -3'

Sequencing Primer
(F):5'- ACTTACAGCCCTGAGGCAG -3'
(R):5'- TTCTGAATGGGAGCATCAGCC -3'

Posted On

2013-10-16