Incidental Mutation 'R2091:Nrros'
| ID |
231796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
040096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2091 (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 |
98% (50/51) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
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 |
|
|
R2090: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'- ACTGGTTGTGGCTCAGATC -3'
(R):5'- ACTGGACCTGTCTCACAACC -3'
Sequencing Primer
(F):5'- GTTGTGGCTCAGATCCAGCTC -3'
(R):5'- TGTCTCACAACCAGCTGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation