Incidental Mutation 'R5866:Nos1'
| ID |
454172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nos1
|
| Ensembl Gene |
ENSMUSG00000029361 |
| Gene Name |
nitric oxide synthase 1, neuronal |
| Synonyms |
Nos-1, NO, 2310005C01Rik, bNOS, nNOS |
| MMRRC Submission |
044075-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
118004904-118096905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118033967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 363
(D363G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086451]
[ENSMUST00000102557]
[ENSMUST00000142742]
[ENSMUST00000171055]
|
| AlphaFold |
Q9Z0J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086451
AA Change: D363G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: D363G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
100 |
2.73e-16 |
SMART |
|
Pfam:NO_synthase
|
346 |
717 |
1e-226 |
PFAM |
|
Pfam:Flavodoxin_1
|
757 |
930 |
3.5e-56 |
PFAM |
|
Pfam:FAD_binding_1
|
985 |
1214 |
1.1e-84 |
PFAM |
|
Pfam:NAD_binding_1
|
1246 |
1360 |
2.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102557
AA Change: D363G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: D363G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
100 |
2.73e-16 |
SMART |
|
Pfam:NO_synthase
|
350 |
712 |
2e-196 |
PFAM |
|
Pfam:Flavodoxin_1
|
757 |
964 |
2.3e-55 |
PFAM |
|
Pfam:FAD_binding_1
|
1019 |
1248 |
2.9e-88 |
PFAM |
|
Pfam:NAD_binding_1
|
1280 |
1394 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142742
AA Change: D363G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: D363G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
100 |
2.73e-16 |
SMART |
|
Pfam:NO_synthase
|
346 |
717 |
4e-226 |
PFAM |
|
Pfam:Flavodoxin_1
|
757 |
930 |
1.5e-55 |
PFAM |
|
Pfam:FAD_binding_1
|
985 |
1214 |
3.2e-84 |
PFAM |
|
Pfam:NAD_binding_1
|
1246 |
1360 |
1.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171055
AA Change: D363G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: D363G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
100 |
2.73e-16 |
SMART |
|
Pfam:NO_synthase
|
346 |
717 |
4e-226 |
PFAM |
|
Pfam:Flavodoxin_1
|
757 |
930 |
1.5e-55 |
PFAM |
|
Pfam:FAD_binding_1
|
985 |
1214 |
3.2e-84 |
PFAM |
|
Pfam:NAD_binding_1
|
1246 |
1360 |
1.4e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.2685 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
| Validation Efficiency |
91% (51/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
| A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
| A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,607,101 (GRCm39) |
A328V |
probably damaging |
Het |
| Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,355,569 (GRCm39) |
M302K |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,398,037 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
| BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
| Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
| Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
| Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
| Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
| Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
| Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
| Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
| Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
| Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
| Slc24a5 |
T |
A |
2: 124,927,591 (GRCm39) |
F297I |
probably damaging |
Het |
| Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
| Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
| Vsig10 |
A |
T |
5: 117,490,814 (GRCm39) |
|
probably null |
Het |
| Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
possibly damaging |
Het |
|
| Other mutations in Nos1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Nos1
|
APN |
5 |
118,048,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01155:Nos1
|
APN |
5 |
118,083,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01462:Nos1
|
APN |
5 |
118,005,774 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01464:Nos1
|
APN |
5 |
118,081,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Nos1
|
APN |
5 |
118,043,374 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01621:Nos1
|
APN |
5 |
118,083,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Nos1
|
APN |
5 |
118,076,339 (GRCm39) |
nonsense |
probably null |
|
|
IGL02003:Nos1
|
APN |
5 |
118,043,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02274:Nos1
|
APN |
5 |
118,035,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Nos1
|
APN |
5 |
118,033,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Nos1
|
APN |
5 |
118,081,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03088:Nos1
|
APN |
5 |
118,005,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Nos1
|
APN |
5 |
118,052,517 (GRCm39) |
splice site |
probably benign |
|
|
Crumple
|
UTSW |
5 |
118,033,925 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
penurious
|
UTSW |
5 |
118,033,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
spendthrift
|
UTSW |
5 |
118,091,848 (GRCm39) |
splice site |
probably benign |
|
|
squanderer
|
UTSW |
5 |
118,048,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0007:Nos1
|
UTSW |
5 |
118,048,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Nos1
|
UTSW |
5 |
118,031,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0080:Nos1
|
UTSW |
5 |
118,031,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Nos1
|
UTSW |
5 |
118,048,277 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0240:Nos1
|
UTSW |
5 |
118,005,948 (GRCm39) |
missense |
probably benign |
|
|
R0240:Nos1
|
UTSW |
5 |
118,005,948 (GRCm39) |
missense |
probably benign |
|
|
R0454:Nos1
|
UTSW |
5 |
118,081,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0494:Nos1
|
UTSW |
5 |
118,043,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Nos1
|
UTSW |
5 |
118,085,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Nos1
|
UTSW |
5 |
118,061,460 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1243:Nos1
|
UTSW |
5 |
118,043,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Nos1
|
UTSW |
5 |
118,091,848 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Nos1
|
UTSW |
5 |
118,087,684 (GRCm39) |
splice site |
probably benign |
|
|
R1698:Nos1
|
UTSW |
5 |
118,005,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1710:Nos1
|
UTSW |
5 |
118,033,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Nos1
|
UTSW |
5 |
118,043,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1973:Nos1
|
UTSW |
5 |
118,074,491 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2084:Nos1
|
UTSW |
5 |
118,081,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Nos1
|
UTSW |
5 |
118,074,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4689:Nos1
|
UTSW |
5 |
118,017,450 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4769:Nos1
|
UTSW |
5 |
118,081,310 (GRCm39) |
nonsense |
probably null |
|
|
R4893:Nos1
|
UTSW |
5 |
118,090,942 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4916:Nos1
|
UTSW |
5 |
118,085,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4956:Nos1
|
UTSW |
5 |
118,085,575 (GRCm39) |
missense |
probably benign |
|
|
R4971:Nos1
|
UTSW |
5 |
118,081,899 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4987:Nos1
|
UTSW |
5 |
118,064,598 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Nos1
|
UTSW |
5 |
118,005,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Nos1
|
UTSW |
5 |
118,017,378 (GRCm39) |
missense |
probably benign |
|
|
R5137:Nos1
|
UTSW |
5 |
118,043,378 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5481:Nos1
|
UTSW |
5 |
118,005,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5541:Nos1
|
UTSW |
5 |
118,043,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Nos1
|
UTSW |
5 |
118,061,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Nos1
|
UTSW |
5 |
118,074,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6158:Nos1
|
UTSW |
5 |
118,005,639 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6225:Nos1
|
UTSW |
5 |
118,050,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Nos1
|
UTSW |
5 |
118,074,635 (GRCm39) |
missense |
probably benign |
|
|
R6388:Nos1
|
UTSW |
5 |
118,052,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6987:Nos1
|
UTSW |
5 |
118,033,850 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7104:Nos1
|
UTSW |
5 |
118,085,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Nos1
|
UTSW |
5 |
118,033,925 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7276:Nos1
|
UTSW |
5 |
118,048,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7299:Nos1
|
UTSW |
5 |
118,005,970 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7301:Nos1
|
UTSW |
5 |
118,005,970 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7402:Nos1
|
UTSW |
5 |
118,087,880 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7408:Nos1
|
UTSW |
5 |
118,005,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Nos1
|
UTSW |
5 |
118,042,009 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7689:Nos1
|
UTSW |
5 |
118,035,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7964:Nos1
|
UTSW |
5 |
118,038,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Nos1
|
UTSW |
5 |
118,017,405 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9147:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9148:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9149:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9246:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9248:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9249:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9254:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9255:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9256:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9283:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9320:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9321:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9326:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9327:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9331:Nos1
|
UTSW |
5 |
118,038,589 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9379:Nos1
|
UTSW |
5 |
118,017,402 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9432:Nos1
|
UTSW |
5 |
118,034,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9470:Nos1
|
UTSW |
5 |
118,064,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Nos1
|
UTSW |
5 |
118,043,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Nos1
|
UTSW |
5 |
118,087,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Nos1
|
UTSW |
5 |
118,081,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Nos1
|
UTSW |
5 |
118,081,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nos1
|
UTSW |
5 |
118,061,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCATGACACCTGCCAAG -3'
(R):5'- ATACATGGGGAATAGTGAGTGTCTTC -3'
Sequencing Primer
(F):5'- ATGACACCTGCCAAGCCTGG -3'
(R):5'- AGTTGTCAATGAGCCCCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation