Incidental Mutation 'R7010:Nrros'
ID |
544982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrros
|
Ensembl Gene |
ENSMUSG00000052384 |
Gene Name |
negative regulator of reactive oxygen species |
Synonyms |
E430025L02Rik, Lrrc33 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7010 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31962398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 540
(T540A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099991]
[ENSMUST00000115163]
[ENSMUST00000115165]
[ENSMUST00000126869]
[ENSMUST00000130410]
[ENSMUST00000143682]
[ENSMUST00000144345]
[ENSMUST00000231836]
|
AlphaFold |
Q8BMT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099991
AA Change: T512A
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097571 Gene: ENSMUSG00000052384 AA Change: T512A
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: T540A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110817 Gene: ENSMUSG00000052384 AA Change: T540A
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 |
possibly damaging
Transcript: ENSMUST00000115165
AA Change: T488A
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110819 Gene: ENSMUSG00000052384 AA Change: T488A
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 |
possibly damaging
Transcript: ENSMUST00000126869
AA Change: T512A
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116388 Gene: ENSMUSG00000052384 AA Change: T512A
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: 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 |
possibly damaging
Transcript: ENSMUST00000143682
AA Change: T512A
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119349 Gene: ENSMUSG00000052384 AA Change: T512A
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: 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 benign
Transcript: ENSMUST00000231836
AA Change: T504A
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
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 |
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 |
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'- AGAGAGTTTCTGCGGAGGTC -3'
(R):5'- GTCACAATCAGATCTCACTTTGTC -3'
Sequencing Primer
(F):5'- TCTGCGGAGGTCGAGAGTC -3'
(R):5'- TCAGATGGTGCCCGTAGACTG -3'
|
Posted On |
2019-05-13 |