Incidental Mutation 'R5474:Nrros'
| ID |
433989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31963170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 246
(I246M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099991]
[ENSMUST00000115163]
[ENSMUST00000115165]
[ENSMUST00000126869]
[ENSMUST00000130410]
[ENSMUST00000143682]
[ENSMUST00000231836]
[ENSMUST00000144345]
|
| AlphaFold |
Q8BMT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099991
AA Change: I254M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
AA Change: I254M
| 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: ENSMUST00000115163
AA Change: I282M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: I282M
| 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 benign
Transcript: ENSMUST00000115165
AA Change: I230M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
AA Change: I230M
| 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 benign
Transcript: ENSMUST00000126869
AA Change: I254M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116388
Gene: ENSMUSG00000052384
AA Change: I254M
| 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 benign
Transcript: ENSMUST00000143682
AA Change: I254M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
AA Change: I254M
| 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: ENSMUST00000231836
AA Change: I246M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
probably damaging |
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 |
|
|
R2033: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 |
|
|
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 |
|
| Posted On |
2016-10-06 |
Incidental Mutation