Incidental Mutation 'R7948:Nrros'
| ID |
615997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrros
|
| Ensembl Gene |
ENSMUSG00000052384 |
| Gene Name |
negative regulator of reactive oxygen species |
| Synonyms |
E430025L02Rik, Lrrc33 |
| MMRRC Submission |
045993-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7948 (G1)
|
| Quality Score |
171.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31961603-31984412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31981076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 17
(N17K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099991]
[ENSMUST00000115163]
[ENSMUST00000115165]
[ENSMUST00000130410]
[ENSMUST00000143682]
[ENSMUST00000144345]
[ENSMUST00000231836]
|
| AlphaFold |
Q8BMT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099991
|
| SMART Domains |
Protein: ENSMUSP00000097571
Gene: ENSMUSG00000052384
| 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 |
unknown
Transcript: ENSMUST00000115163
AA Change: N17K
|
| SMART Domains |
Protein: ENSMUSP00000110817
Gene: ENSMUSG00000052384
AA Change: N17K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110819
Gene: ENSMUSG00000052384
| 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: 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
|
| SMART Domains |
Protein: ENSMUSP00000119349
Gene: ENSMUSG00000052384
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
CGGTCTAGCTGAGCAGGAGGCAGCTCAGG |
CGG |
14: 70,394,815 (GRCm39) |
|
probably null |
Het |
| Abca8a |
A |
T |
11: 109,941,805 (GRCm39) |
Y1155N |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,687,199 (GRCm39) |
R435K |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,707 (GRCm39) |
D1233G |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,961,194 (GRCm39) |
R1639H |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,832,910 (GRCm39) |
T496A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,508,258 (GRCm39) |
M1257V |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,528,186 (GRCm39) |
|
probably null |
Het |
| Cts3 |
T |
C |
13: 61,713,863 (GRCm39) |
E288G |
probably benign |
Het |
| Deup1 |
T |
C |
9: 15,521,944 (GRCm39) |
K74E |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,092,992 (GRCm39) |
Y101* |
probably null |
Het |
| Ercc4 |
A |
G |
16: 12,948,049 (GRCm39) |
D422G |
probably benign |
Het |
| Exoc6 |
A |
C |
19: 37,565,422 (GRCm39) |
N166T |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,478,409 (GRCm39) |
Y47C |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,183,219 (GRCm39) |
Q1753H |
probably damaging |
Het |
| Gal3st4 |
C |
T |
5: 138,269,262 (GRCm39) |
R66Q |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Golm1 |
C |
A |
13: 59,812,011 (GRCm39) |
|
probably null |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,230 (GRCm39) |
H434R |
probably damaging |
Het |
| Hbegf |
A |
G |
18: 36,639,752 (GRCm39) |
L194S |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,279 (GRCm39) |
S301P |
probably benign |
Het |
| Il9r |
A |
C |
11: 32,144,486 (GRCm39) |
C106W |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,994 (GRCm39) |
D389G |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,921,174 (GRCm39) |
D3373E |
possibly damaging |
Het |
| Mkrn1 |
T |
A |
6: 39,377,344 (GRCm39) |
Y361F |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,058,296 (GRCm39) |
R45Q |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,786 (GRCm39) |
I4169N |
unknown |
Het |
| Myo7a |
C |
T |
7: 97,724,236 (GRCm39) |
G1150S |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,135,306 (GRCm39) |
D503G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,281,535 (GRCm39) |
I46V |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Or51a39 |
C |
T |
7: 102,362,895 (GRCm39) |
V242I |
probably benign |
Het |
| Patj |
A |
T |
4: 98,312,547 (GRCm39) |
K295M |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,516,222 (GRCm39) |
T167A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,815,180 (GRCm39) |
L1212* |
probably null |
Het |
| Peg3 |
T |
A |
7: 6,711,781 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,432,420 (GRCm39) |
N77K |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,393,903 (GRCm39) |
I257V |
possibly damaging |
Het |
| Ptprc |
G |
A |
1: 137,992,314 (GRCm39) |
T1132I |
probably benign |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,240,156 (GRCm39) |
M293K |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,833,229 (GRCm39) |
W1749R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,302,091 (GRCm39) |
Y1020* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,598,523 (GRCm39) |
Y19463* |
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,443,996 (GRCm39) |
D18E |
probably benign |
Het |
| Ubtd1 |
T |
A |
19: 42,022,174 (GRCm39) |
F149I |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,349,658 (GRCm39) |
K3279R |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,540 (GRCm39) |
T1117A |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,096 (GRCm39) |
C289S |
unknown |
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 |
|
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 |
|
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'- TAGACCAGTCTGGCCTCAAACTC -3'
(R):5'- TGCATGGAGGAATTCACAGTC -3'
Sequencing Primer
(F):5'- GTCTGGCCTCAAACTCATAGATATTC -3'
(R):5'- CCTGTGGAACTGTATTTACATGCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation