Incidental Mutation 'R2031:Nrros'
| ID |
221291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2031 (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: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| Adam1b |
G |
T |
5: 121,639,118 (GRCm39) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,789 (GRCm39) |
V238A |
probably damaging |
Het |
| Arhgap28 |
G |
T |
17: 68,203,111 (GRCm39) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,114,518 (GRCm39) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,477,678 (GRCm39) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm39) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,946,771 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,715 (GRCm39) |
F736L |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,415,370 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,348,262 (GRCm39) |
|
probably null |
Het |
| Cep85 |
A |
G |
4: 133,859,761 (GRCm39) |
V634A |
probably benign |
Het |
| Cpeb3 |
C |
T |
19: 37,022,079 (GRCm39) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,961,895 (GRCm39) |
S331A |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,578,480 (GRCm39) |
V36A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,297 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,380,929 (GRCm39) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,506,649 (GRCm39) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,004,172 (GRCm39) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,476 (GRCm39) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,580,343 (GRCm39) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,474 (GRCm39) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,021 (GRCm39) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,707,199 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,748,013 (GRCm39) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm39) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,326,584 (GRCm39) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,014 (GRCm39) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,426,028 (GRCm39) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,937 (GRCm39) |
L172P |
probably damaging |
Het |
| Or1d2 |
A |
G |
11: 74,255,777 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,105 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,643 (GRCm39) |
T278A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,371 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5an10 |
A |
T |
19: 12,275,740 (GRCm39) |
V252D |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,770 (GRCm39) |
L216S |
probably benign |
Het |
| Parvb |
A |
T |
15: 84,167,036 (GRCm39) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,127,484 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,047,013 (GRCm39) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,779,529 (GRCm39) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,172,310 (GRCm39) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,153,448 (GRCm39) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,443,684 (GRCm39) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,271,366 (GRCm39) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,943,164 (GRCm39) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,733 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,358 (GRCm39) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,100,560 (GRCm39) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,876,812 (GRCm39) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,689,236 (GRCm39) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,317,870 (GRCm39) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,706,062 (GRCm39) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,574 (GRCm39) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,659,717 (GRCm39) |
W154R |
possibly 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 |
|
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 |
|
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'- TGGTTGTGGCTCAGATCCAG -3'
(R):5'- TACTGGACCTGTCTCACAACCAG -3'
Sequencing Primer
(F):5'- TCAGATCCAGCTCGGTGAGTG -3'
(R):5'- GTCTCACAACCAGCTGCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation