Incidental Mutation 'R2090:Nrros'
| ID |
231739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
040095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2090 (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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,391,456 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
A |
T |
8: 89,042,485 (GRCm39) |
T451S |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,766,558 (GRCm39) |
T410S |
possibly damaging |
Het |
| Alg11 |
G |
T |
8: 22,555,646 (GRCm39) |
L302F |
possibly damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,445,905 (GRCm39) |
V310A |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,942,575 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,786,291 (GRCm39) |
V299A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,969,791 (GRCm39) |
N4258S |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,321 (GRCm39) |
K196E |
probably benign |
Het |
| Calhm6 |
A |
G |
10: 34,002,358 (GRCm39) |
S242P |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,827 (GRCm39) |
K111E |
probably damaging |
Het |
| Crtam |
T |
C |
9: 40,895,612 (GRCm39) |
Q41R |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,160,493 (GRCm39) |
K560R |
possibly damaging |
Het |
| Dcaf15 |
A |
T |
8: 84,824,400 (GRCm39) |
Y571* |
probably null |
Het |
| Defa39 |
A |
T |
8: 22,192,805 (GRCm39) |
W64R |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,304,344 (GRCm39) |
Y99C |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,405 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,824 (GRCm39) |
D254E |
probably benign |
Het |
| Gjb5 |
T |
C |
4: 127,249,794 (GRCm39) |
N117D |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,709,794 (GRCm39) |
L337F |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,675 (GRCm39) |
Y307F |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,631 (GRCm39) |
M144L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,603,046 (GRCm39) |
I653T |
probably benign |
Het |
| Il24 |
T |
G |
1: 130,812,574 (GRCm39) |
D99A |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,637,966 (GRCm39) |
Q484R |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,674 (GRCm39) |
S283P |
probably benign |
Het |
| Lsp1 |
T |
C |
7: 142,045,544 (GRCm39) |
|
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 139,995,011 (GRCm39) |
S672P |
probably benign |
Het |
| Man2a2 |
A |
T |
7: 80,013,858 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,663,341 (GRCm39) |
H515N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,534,903 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,230 (GRCm39) |
L247P |
probably damaging |
Het |
| Nfkbiz |
A |
T |
16: 55,636,818 (GRCm39) |
F494L |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,436 (GRCm39) |
P277S |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,151,496 (GRCm39) |
D682G |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,073,993 (GRCm39) |
D301N |
probably damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,762 (GRCm39) |
I230F |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,289 (GRCm39) |
I193N |
probably benign |
Het |
| Or5h26 |
A |
G |
16: 58,988,503 (GRCm39) |
M1T |
probably null |
Het |
| Palmd |
A |
G |
3: 116,721,083 (GRCm39) |
S123P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,325,560 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,655 (GRCm39) |
D162G |
probably benign |
Het |
| Plppr5 |
A |
G |
3: 117,369,520 (GRCm39) |
D59G |
possibly damaging |
Het |
| Pmvk |
A |
C |
3: 89,369,189 (GRCm39) |
R11S |
possibly damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,728,901 (GRCm39) |
T363A |
probably benign |
Het |
| Poll |
A |
T |
19: 45,547,277 (GRCm39) |
I65N |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,009 (GRCm39) |
S479C |
probably damaging |
Het |
| Prss50 |
A |
T |
9: 110,691,361 (GRCm39) |
S222C |
probably damaging |
Het |
| Rasa3 |
A |
C |
8: 13,632,381 (GRCm39) |
|
probably benign |
Het |
| Sec14l3 |
T |
C |
11: 4,025,481 (GRCm39) |
V335A |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,899,935 (GRCm39) |
S1244N |
probably benign |
Het |
| Sgcg |
A |
T |
14: 61,483,213 (GRCm39) |
F63I |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,400,695 (GRCm39) |
I176F |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,339,987 (GRCm39) |
T432A |
probably benign |
Het |
| Snx25 |
G |
A |
8: 46,509,150 (GRCm39) |
P478L |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,879,882 (GRCm39) |
H1151Q |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,673 (GRCm39) |
K795R |
possibly damaging |
Het |
| Tmem108 |
G |
A |
9: 103,361,976 (GRCm39) |
L537F |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,766,361 (GRCm39) |
Y410H |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,555,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r224 |
T |
C |
17: 20,639,524 (GRCm39) |
Y34H |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,458 (GRCm39) |
V323A |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,644,834 (GRCm39) |
D240G |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,996 (GRCm39) |
C152* |
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 |
|
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 |
|
|
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'- TTGTGGCTCAGATCCAGCTC -3'
(R):5'- GAGATACTGGACCTGTCTCACAAC -3'
Sequencing Primer
(F):5'- TCAGATCCAGCTCGGTGAGTG -3'
(R):5'- TGTCTCACAACCAGCTGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation