Incidental Mutation 'R5527:Nrros'
| ID |
431952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
043085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31963288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 207
(N207S)
|
| 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: N215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
AA Change: N215S
| 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: N243S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: N243S
| 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: N191S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
AA Change: N191S
| 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: N215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116388
Gene: ENSMUSG00000052384
AA Change: N215S
| 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: N215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
AA Change: N215S
| 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: N207S
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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.7%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,278,842 (GRCm39) |
Y1051N |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,433 (GRCm39) |
S325P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,960,786 (GRCm39) |
S1529P |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,396,134 (GRCm39) |
L168P |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,730,401 (GRCm39) |
M426T |
probably benign |
Het |
| Cdk7 |
C |
T |
13: 100,866,980 (GRCm39) |
V38I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,764,440 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Cplane2 |
C |
A |
4: 140,947,303 (GRCm39) |
A228D |
probably damaging |
Het |
| Ddx47 |
C |
A |
6: 134,988,657 (GRCm39) |
A18E |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,328,014 (GRCm39) |
Q3370* |
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,136,212 (GRCm39) |
V976I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,842,105 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,413,555 (GRCm39) |
I362N |
possibly damaging |
Het |
| Fam118a |
A |
T |
15: 84,942,999 (GRCm39) |
T343S |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,060 (GRCm39) |
D1021E |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,883,746 (GRCm39) |
Y83C |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,525,581 (GRCm39) |
I709T |
probably damaging |
Het |
| Gga3 |
G |
T |
11: 115,478,262 (GRCm39) |
A510D |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,417,641 (GRCm39) |
I264T |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,419,829 (GRCm39) |
I384T |
probably benign |
Het |
| Hes2 |
T |
C |
4: 152,244,849 (GRCm39) |
V106A |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,569 (GRCm39) |
M1083K |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,513,010 (GRCm39) |
D166E |
probably benign |
Het |
| Ipo4 |
G |
A |
14: 55,869,507 (GRCm39) |
|
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,662,187 (GRCm39) |
I15T |
probably benign |
Het |
| Krt42 |
T |
C |
11: 100,154,121 (GRCm39) |
|
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,885,592 (GRCm39) |
T263A |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,586 (GRCm39) |
|
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,745,377 (GRCm39) |
H90L |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 47,006,870 (GRCm39) |
D331N |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,187 (GRCm39) |
W342R |
probably damaging |
Het |
| Mob2 |
A |
G |
7: 141,563,147 (GRCm39) |
F220S |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,486,865 (GRCm39) |
I342T |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,349,368 (GRCm39) |
Y46H |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,224,465 (GRCm39) |
V10A |
unknown |
Het |
| Nlrc5 |
A |
G |
8: 95,217,044 (GRCm39) |
H1011R |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,921 (GRCm39) |
T2A |
possibly damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,768 (GRCm39) |
S143T |
probably benign |
Het |
| Or7c70 |
C |
T |
10: 78,683,609 (GRCm39) |
V47M |
probably benign |
Het |
| Pcare |
A |
T |
17: 72,059,635 (GRCm39) |
V14D |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,052 (GRCm39) |
T714I |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,616 (GRCm39) |
T1499A |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,081 (GRCm39) |
K771E |
probably damaging |
Het |
| Sbds |
T |
C |
5: 130,275,247 (GRCm39) |
E227G |
possibly damaging |
Het |
| Setd1a |
C |
T |
7: 127,384,801 (GRCm39) |
P8S |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Spef1 |
T |
A |
2: 131,014,661 (GRCm39) |
D87V |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,265,608 (GRCm39) |
R644Q |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,769 (GRCm39) |
F51S |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,739 (GRCm39) |
L176P |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,776 (GRCm39) |
I17T |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,143,847 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,164 (GRCm39) |
P146S |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,208,099 (GRCm39) |
I4960N |
possibly damaging |
Het |
| Usp13 |
A |
G |
3: 32,919,987 (GRCm39) |
D224G |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,240 (GRCm39) |
T188A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,483 (GRCm39) |
Y576* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,575 (GRCm39) |
D579G |
possibly damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,981 (GRCm39) |
N524D |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,871,675 (GRCm39) |
I366L |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,676,159 (GRCm39) |
V386E |
possibly damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,261 (GRCm39) |
L2261Q |
probably damaging |
Het |
| Zpld1 |
C |
G |
16: 55,046,725 (GRCm39) |
E415Q |
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 |
|
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'- TAGAAGCCCATGTTGTTGTCC -3'
(R):5'- TCAGAACCTCTCCTCGTTGG -3'
Sequencing Primer
(F):5'- CCCATGTTGTTGTCCTGGAGC -3'
(R):5'- GAGGTTGTGTCCTTGGCAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation