Incidental Mutation 'R5629:Nrros'
ID |
442019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrros
|
Ensembl Gene |
ENSMUSG00000052384 |
Gene Name |
negative regulator of reactive oxygen species |
Synonyms |
E430025L02Rik, Lrrc33 |
MMRRC Submission |
043280-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5629 (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 A
at 31963223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 265
(I265F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099991]
[ENSMUST00000115163]
[ENSMUST00000115165]
[ENSMUST00000126869]
[ENSMUST00000130410]
[ENSMUST00000143682]
[ENSMUST00000231836]
[ENSMUST00000144345]
|
AlphaFold |
Q8BMT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099991
AA Change: I237F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097571 Gene: ENSMUSG00000052384 AA Change: I237F
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: I265F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110817 Gene: ENSMUSG00000052384 AA Change: I265F
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: I213F
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110819 Gene: ENSMUSG00000052384 AA Change: I213F
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: I237F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116388 Gene: ENSMUSG00000052384 AA Change: I237F
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 |
possibly damaging
Transcript: ENSMUST00000143682
AA Change: I237F
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119349 Gene: ENSMUSG00000052384 AA Change: I237F
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 |
possibly damaging
Transcript: ENSMUST00000231836
AA Change: I229F
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 36,014,507 (GRCm39) |
D189N |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,775,114 (GRCm39) |
V1052D |
probably damaging |
Het |
Apob |
T |
C |
12: 8,057,847 (GRCm39) |
Y2077H |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,602,276 (GRCm39) |
K291N |
probably benign |
Het |
Arsk |
A |
T |
13: 76,242,027 (GRCm39) |
I82N |
probably damaging |
Het |
Art1 |
A |
G |
7: 101,756,286 (GRCm39) |
Q159R |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,598,159 (GRCm39) |
V733A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,130 (GRCm39) |
|
probably null |
Het |
Catsper1 |
C |
T |
19: 5,386,165 (GRCm39) |
P133S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,726,266 (GRCm39) |
D3165G |
probably benign |
Het |
Cldn19 |
T |
A |
4: 119,114,116 (GRCm39) |
V86E |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,382,802 (GRCm39) |
D649E |
probably benign |
Het |
Cttnbp2 |
A |
G |
6: 18,405,217 (GRCm39) |
I1094T |
probably damaging |
Het |
Ddx24 |
T |
C |
12: 103,391,806 (GRCm39) |
|
probably benign |
Het |
Ern2 |
T |
A |
7: 121,769,389 (GRCm39) |
H879L |
probably damaging |
Het |
Etv4 |
T |
A |
11: 101,662,751 (GRCm39) |
H277L |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,837 (GRCm39) |
A312D |
probably damaging |
Het |
Glipr1l1 |
G |
A |
10: 111,914,308 (GRCm39) |
C223Y |
possibly damaging |
Het |
Gna14 |
T |
C |
19: 16,414,097 (GRCm39) |
S14P |
possibly damaging |
Het |
Hapln1 |
A |
G |
13: 89,749,634 (GRCm39) |
T60A |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,719 (GRCm39) |
Y273* |
probably null |
Het |
Ighv5-6 |
A |
T |
12: 113,589,242 (GRCm39) |
Y79* |
probably null |
Het |
Iqgap2 |
T |
A |
13: 95,768,682 (GRCm39) |
N1406I |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,860,304 (GRCm39) |
T215A |
possibly damaging |
Het |
Krtap13-1 |
T |
A |
16: 88,526,047 (GRCm39) |
S90R |
probably benign |
Het |
Mettl8 |
T |
C |
2: 70,795,913 (GRCm39) |
I372V |
probably benign |
Het |
Mfn1 |
A |
T |
3: 32,615,659 (GRCm39) |
T341S |
possibly damaging |
Het |
Mocos |
T |
A |
18: 24,797,142 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,036 (GRCm39) |
S2661P |
possibly damaging |
Het |
Myo15a |
C |
T |
11: 60,370,578 (GRCm39) |
P1113S |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,111,127 (GRCm39) |
I1540F |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,156 (GRCm39) |
Y287H |
probably damaging |
Het |
Napepld |
A |
G |
5: 21,880,901 (GRCm39) |
F165L |
probably benign |
Het |
Ndufb10 |
T |
C |
17: 24,941,656 (GRCm39) |
E102G |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,897,460 (GRCm39) |
F891I |
possibly damaging |
Het |
Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
Oas2 |
G |
A |
5: 120,876,516 (GRCm39) |
Q476* |
probably null |
Het |
Or51f5 |
A |
T |
7: 102,423,847 (GRCm39) |
I39F |
possibly damaging |
Het |
Pcnx2 |
C |
A |
8: 126,624,780 (GRCm39) |
W14L |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,165,373 (GRCm39) |
H278R |
probably benign |
Het |
Piwil2 |
C |
T |
14: 70,660,416 (GRCm39) |
V70M |
probably damaging |
Het |
Prss23 |
A |
C |
7: 89,159,400 (GRCm39) |
V223G |
probably damaging |
Het |
Rarres2 |
A |
T |
6: 48,547,194 (GRCm39) |
L122Q |
probably benign |
Het |
Robo1 |
T |
C |
16: 72,780,598 (GRCm39) |
V776A |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,330,507 (GRCm39) |
Q1008* |
probably null |
Het |
Robo4 |
G |
A |
9: 37,319,658 (GRCm39) |
C636Y |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,395,464 (GRCm39) |
M196V |
probably benign |
Het |
Septin7 |
T |
A |
9: 25,199,589 (GRCm39) |
Y163N |
probably damaging |
Het |
Skint6 |
G |
A |
4: 112,870,176 (GRCm39) |
T594I |
possibly damaging |
Het |
Slc23a1 |
T |
C |
18: 35,759,545 (GRCm39) |
H13R |
probably benign |
Het |
Slc25a39 |
A |
C |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
Slc8a3 |
G |
A |
12: 81,246,405 (GRCm39) |
R883C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,987,435 (GRCm39) |
Y1575F |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,705 (GRCm39) |
I321N |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,614,576 (GRCm39) |
P311S |
probably damaging |
Het |
Svs3a |
T |
A |
2: 164,132,040 (GRCm39) |
S203T |
probably benign |
Het |
Taf3 |
A |
T |
2: 9,922,989 (GRCm39) |
I45N |
probably damaging |
Het |
Taf7 |
T |
C |
18: 37,776,555 (GRCm39) |
N4S |
probably benign |
Het |
Tial1 |
T |
A |
7: 128,046,421 (GRCm39) |
D87V |
probably damaging |
Het |
Tmem120a |
T |
A |
5: 135,770,904 (GRCm39) |
E78V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,183,165 (GRCm39) |
F137L |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trim30d |
T |
C |
7: 104,137,136 (GRCm39) |
K23E |
possibly damaging |
Het |
Ubxn7 |
C |
A |
16: 32,151,117 (GRCm39) |
H4Q |
unknown |
Het |
Usp40 |
C |
T |
1: 87,908,731 (GRCm39) |
R590H |
probably benign |
Het |
Vmn1r90 |
A |
G |
7: 14,296,011 (GRCm39) |
M22T |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 64,012,538 (GRCm39) |
V800M |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,267,673 (GRCm39) |
I313N |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
Zic4 |
G |
A |
9: 91,260,805 (GRCm39) |
R20H |
probably benign |
Het |
Zp3r |
C |
T |
1: 130,510,616 (GRCm39) |
V369M |
probably damaging |
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 |
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'- ATTGCCGTCCACAAGAAGGAAC -3'
(R):5'- TCTTTGAGGGCCTGGAACAC -3'
Sequencing Primer
(F):5'- TCCACAAGAAGGAACTGGGCC -3'
(R):5'- CCTGGAACACCTTGTAGAGCTAG -3'
|
Posted On |
2016-11-08 |