Mutagenetix > Incidental Mutations

Incidental Mutation 'R6869:Nrros'

536114

Institutional Source

Beutler Lab

Gene Symbol

Nrros

Ensembl Gene

ENSMUSG00000052384

Gene Name

negative regulator of reactive oxygen species

Synonyms

Lrrc33, E430025L02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32142785-32165594 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32144431 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 220 (L220S)

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: L228S

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

SMART Domains

Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
AA Change: L228S

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: L256S

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

SMART Domains

Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: L256S

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: L204S

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

SMART Domains

Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
AA Change: L204S

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: L228S

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

SMART Domains

Protein: ENSMUSP00000116388
Gene: ENSMUSG00000052384
AA Change: L228S

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: 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

probably damaging
Transcript: ENSMUST00000143682
AA Change: L228S

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

SMART Domains

Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
AA Change: L228S

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

probably damaging
Transcript: ENSMUST00000231836
AA Change: L220S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	A	T	13: 96,444,291	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,409,055	R999L	probably damaging	Het
Bnc2	T	A	4: 84,293,496	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,233,223	I357T	probably benign	Het
Catsperb	T	C	12: 101,480,737	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,809,454	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,595,496	D17G	probably damaging	Het
Chd6	T	C	2: 160,965,730	S1855G	probably benign	Het
Cpe	A	G	8: 64,619,427	V143A	probably benign	Het
Cyfip1	T	A	7: 55,907,365	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,702,784	M494L	probably benign	Het
Dcstamp	T	C	15: 39,754,458	S88P	probably damaging	Het
Dnah2	T	A	11: 69,429,471	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,474,561	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,431,268	V342E	probably benign	Het
Fastkd1	G	A	2: 69,702,760	A421V	probably benign	Het
Fgf20	T	C	8: 40,281,148	Y64C	probably damaging	Het
Gen1	A	T	12: 11,241,441	N847K	probably benign	Het
Gm438	A	T	4: 144,780,472		probably null	Het
Gm4922	A	T	10: 18,784,515	I153K	probably damaging	Het
Gm6619	T	C	6: 131,486,438	I6T	unknown	Het
H2-Ab1	T	C	17: 34,267,563	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,796,176	L737F	probably damaging	Het
Hells	A	G	19: 38,940,635	N121D	probably benign	Het
Itga2	G	A	13: 114,875,537		probably null	Het
Itgb1	A	G	8: 128,720,035	D391G	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,234,951	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,127	M367T	probably benign	Het
Lrrc43	G	A	5: 123,504,276		probably null	Het
Man2a2	C	T	7: 80,362,945	G574D	probably benign	Het
Mier2	T	G	10: 79,542,669	K343T	probably damaging	Het
Msh5	A	T	17: 35,041,834		probably null	Het
Mtus1	T	C	8: 41,082,654	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,107,907	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,426,453	V723A	probably damaging	Het
Nectin3	G	A	16: 46,395,143	R79C	probably damaging	Het
Nlrc5	A	G	8: 94,521,955	E1735G	probably benign	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr584	G	A	7: 103,085,868	V112M	possibly damaging	Het
Oxa1l	C	T	14: 54,366,738	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,655,106	Y818H	unknown	Het
Pik3cb	A	T	9: 99,060,259	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,826	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Ptprk	T	C	10: 28,473,059		probably null	Het
Ranbp17	T	C	11: 33,513,074		probably benign	Het
Rcbtb1	T	C	14: 59,217,602	V95A	probably benign	Het
Retreg3	G	A	11: 101,119,818		probably benign	Het
Rhobtb1	T	C	10: 69,270,226	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Sh3bgr	A	G	16: 96,206,660	Y75C	probably damaging	Het
Strip1	T	C	3: 107,613,445	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,204,448	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,612,421	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201	N694K	unknown	Het
Tymp	T	C	15: 89,376,691	R20G	probably benign	Het
Ubr4	A	G	4: 139,467,227	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,113,072	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 12,152,749	M96V	probably benign	Het
Wfdc8	C	T	2: 164,599,092	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,214,350	N62K	probably damaging	Het
Zfp579	G	T	7: 4,994,461	D150E	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
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
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'- TCCACAAGAAGGAACTGGGC -3'
(R):5'- GCTCGACGACTCTATCTTTGAG -3'

Sequencing Primer
(F):5'- GTTGTAAAGCTCCCTGTAGAAGCC -3'
(R):5'- CTATCTTTGAGGGCCTGGAACAC -3'

Posted On

2018-10-18