Incidental Mutation 'R0840:Nrros'
| ID |
77142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
039019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31962241 bp (GRCm39)
|
| 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]
[ENSMUST00000231836]
[ENSMUST00000144345]
|
| AlphaFold |
Q8BMT4 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000150250
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231836
AA Change: D556G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
|
| 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 |
|---|
| 2700049A03Rik |
C |
G |
12: 71,205,657 (GRCm39) |
Q434E |
probably benign |
Het |
| A930011G23Rik |
T |
C |
5: 99,382,547 (GRCm39) |
T234A |
probably benign |
Het |
| Acot5 |
G |
A |
12: 84,122,614 (GRCm39) |
W399* |
probably null |
Het |
| Adra1a |
A |
G |
14: 66,965,159 (GRCm39) |
E383G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,982,427 (GRCm39) |
I1237N |
probably damaging |
Het |
| Bsg |
A |
G |
10: 79,545,519 (GRCm39) |
T28A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,243,150 (GRCm39) |
I436F |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,571,612 (GRCm39) |
I417T |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,245,611 (GRCm39) |
D948E |
probably benign |
Het |
| Cfap92 |
G |
T |
6: 87,657,260 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn3 |
C |
A |
8: 61,382,188 (GRCm39) |
V467F |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,935,724 (GRCm39) |
S380G |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dll4 |
T |
A |
2: 119,156,966 (GRCm39) |
N79K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,529,134 (GRCm39) |
N1558I |
unknown |
Het |
| Fblim1 |
A |
G |
4: 141,308,320 (GRCm39) |
F330L |
possibly damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,871,073 (GRCm39) |
M564K |
possibly damaging |
Het |
| Fnip1 |
T |
A |
11: 54,384,007 (GRCm39) |
|
probably benign |
Het |
| Foxl2 |
A |
T |
9: 98,837,984 (GRCm39) |
K91* |
probably null |
Het |
| Gapvd1 |
C |
A |
2: 34,619,125 (GRCm39) |
V83F |
probably benign |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| Irf8 |
G |
A |
8: 121,480,220 (GRCm39) |
G153S |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,403,712 (GRCm39) |
M1K |
probably null |
Het |
| Krt32 |
G |
A |
11: 99,972,068 (GRCm39) |
P427S |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,739,554 (GRCm39) |
S529P |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,300,021 (GRCm39) |
V134A |
probably damaging |
Het |
| Morc2b |
G |
T |
17: 33,355,086 (GRCm39) |
H895Q |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 90,298,567 (GRCm39) |
S1367G |
possibly damaging |
Het |
| Or10al7 |
A |
G |
17: 38,366,463 (GRCm39) |
F7S |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,823 (GRCm39) |
S60T |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,735,729 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
A |
T |
7: 101,886,655 (GRCm39) |
M226L |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,841,798 (GRCm39) |
I616M |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,894,656 (GRCm39) |
I380T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,420,745 (GRCm39) |
I2454V |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,378 (GRCm39) |
I151T |
probably benign |
Het |
| Polr3a |
G |
A |
14: 24,502,268 (GRCm39) |
T1295I |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,748,283 (GRCm39) |
|
probably benign |
Het |
| Prpf39 |
T |
G |
12: 65,094,980 (GRCm39) |
N219K |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,712,904 (GRCm39) |
N790K |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,514,263 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
A |
5: 135,070,088 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,788,777 (GRCm39) |
V690F |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,414,633 (GRCm39) |
I143V |
probably benign |
Het |
| Tmem41b |
G |
A |
7: 109,580,256 (GRCm39) |
S36F |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,978 (GRCm39) |
W364R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,617,155 (GRCm39) |
Y16403C |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,071 (GRCm39) |
S210P |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,821 (GRCm39) |
S145T |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,530 (GRCm39) |
C452* |
probably null |
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 |
|
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 |
|
|
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'- AAGAGACCAGTGTCCACCTGTTCC -3'
(R):5'- AGGCATTACAAGACTGCCCGTTC -3'
Sequencing Primer
(F):5'- ACTTACAGCCCTGAGGCAG -3'
(R):5'- TTCTGAATGGGAGCATCAGCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation