Incidental Mutation 'R2033:Nrros'
ID |
221549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrros
|
Ensembl Gene |
ENSMUSG00000052384 |
Gene Name |
negative regulator of reactive oxygen species |
Synonyms |
E430025L02Rik, Lrrc33 |
MMRRC Submission |
040040-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2033 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 31962975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 311
(W311*)
|
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 null
Transcript: ENSMUST00000099991
AA Change: W319*
|
SMART Domains |
Protein: ENSMUSP00000097571 Gene: ENSMUSG00000052384 AA Change: W319*
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 null
Transcript: ENSMUST00000115163
AA Change: W347*
|
SMART Domains |
Protein: ENSMUSP00000110817 Gene: ENSMUSG00000052384 AA Change: W347*
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 null
Transcript: ENSMUST00000115165
AA Change: W295*
|
SMART Domains |
Protein: ENSMUSP00000110819 Gene: ENSMUSG00000052384 AA Change: W295*
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 null
Transcript: ENSMUST00000126869
AA Change: W319*
|
SMART Domains |
Protein: ENSMUSP00000116388 Gene: ENSMUSG00000052384 AA Change: W319*
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 null
Transcript: ENSMUST00000143682
AA Change: W319*
|
SMART Domains |
Protein: ENSMUSP00000119349 Gene: ENSMUSG00000052384 AA Change: W319*
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: ENSMUST00000150250
|
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 null
Transcript: ENSMUST00000231836
AA Change: W311*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
probably benign |
Het |
|
Other mutations in Nrros |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00920:Nrros
|
APN |
16 |
31,966,438 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01097:Nrros
|
APN |
16 |
31,963,003 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02065:Nrros
|
APN |
16 |
31,963,492 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03372:Nrros
|
APN |
16 |
31,963,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0615:Nrros
|
UTSW |
16 |
31,962,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0669:Nrros
|
UTSW |
16 |
31,962,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0840:Nrros
|
UTSW |
16 |
31,962,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Nrros
|
UTSW |
16 |
31,961,962 (GRCm39) |
missense |
probably damaging |
0.98 |
R1796:Nrros
|
UTSW |
16 |
31,962,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R2031:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2034:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2087:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2089:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2090:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2091:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2091:Nrros
|
UTSW |
16 |
31,962,975 (GRCm39) |
nonsense |
probably null |
|
R2151:Nrros
|
UTSW |
16 |
31,962,076 (GRCm39) |
missense |
probably benign |
0.11 |
R2438:Nrros
|
UTSW |
16 |
31,963,117 (GRCm39) |
missense |
probably benign |
0.25 |
R2438:Nrros
|
UTSW |
16 |
31,962,929 (GRCm39) |
splice site |
probably null |
|
R5474:Nrros
|
UTSW |
16 |
31,963,170 (GRCm39) |
missense |
probably benign |
0.00 |
R5527:Nrros
|
UTSW |
16 |
31,963,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Nrros
|
UTSW |
16 |
31,963,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R5888:Nrros
|
UTSW |
16 |
31,961,905 (GRCm39) |
missense |
probably benign |
0.15 |
R5939:Nrros
|
UTSW |
16 |
31,962,272 (GRCm39) |
missense |
probably benign |
0.01 |
R5982:Nrros
|
UTSW |
16 |
31,963,411 (GRCm39) |
missense |
probably damaging |
0.96 |
R6869:Nrros
|
UTSW |
16 |
31,963,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Nrros
|
UTSW |
16 |
31,981,057 (GRCm39) |
missense |
probably null |
0.01 |
R7010:Nrros
|
UTSW |
16 |
31,962,398 (GRCm39) |
missense |
probably damaging |
0.96 |
R7469:Nrros
|
UTSW |
16 |
31,963,030 (GRCm39) |
missense |
probably benign |
0.14 |
R7673:Nrros
|
UTSW |
16 |
31,981,099 (GRCm39) |
missense |
unknown |
|
R7770:Nrros
|
UTSW |
16 |
31,962,346 (GRCm39) |
missense |
probably benign |
0.01 |
R7948:Nrros
|
UTSW |
16 |
31,981,076 (GRCm39) |
missense |
unknown |
|
R8375:Nrros
|
UTSW |
16 |
31,966,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R8702:Nrros
|
UTSW |
16 |
31,966,589 (GRCm39) |
intron |
probably benign |
|
R9740:Nrros
|
UTSW |
16 |
31,963,667 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0022:Nrros
|
UTSW |
16 |
31,961,858 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGGTTGTGGCTCAGATCC -3'
(R):5'- ACTGGACCTGTCTCACAACC -3'
Sequencing Primer
(F):5'- GTTGTGGCTCAGATCCAGCTC -3'
(R):5'- TGTCTCACAACCAGCTGC -3'
|
Posted On |
2014-08-25 |