Incidental Mutation 'R5939:Nrros'
ID |
462448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrros
|
Ensembl Gene |
ENSMUSG00000052384 |
Gene Name |
negative regulator of reactive oxygen species |
Synonyms |
E430025L02Rik, Lrrc33 |
MMRRC Submission |
043243-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31962272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 546
(F546L)
|
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: F554L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000097571 Gene: ENSMUSG00000052384 AA Change: F554L
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: F582L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000110817 Gene: ENSMUSG00000052384 AA Change: F582L
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: F530L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110819 Gene: ENSMUSG00000052384 AA Change: F530L
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: F554L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000116388 Gene: ENSMUSG00000052384 AA Change: F554L
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 |
probably benign
Transcript: ENSMUST00000143682
AA Change: F554L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000119349 Gene: ENSMUSG00000052384 AA Change: F554L
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: ENSMUST00000136809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231836
AA Change: F546L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
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 |
|
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 |
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'- TTGCAAGTGACCATGGACAAG -3'
(R):5'- TTAGACCTGTCTAGCAACTGGG -3'
Sequencing Primer
(F):5'- TCCGCAACAGTCTTGAAGTG -3'
(R):5'- GGGGTTCTGAATGGGAGCATC -3'
|
Posted On |
2017-02-28 |