Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Nos1'

366323

Institutional Source

Beutler Lab

Gene Symbol

Nos1

Ensembl Gene

ENSMUSG00000029361

Gene Name

nitric oxide synthase 1, neuronal

Synonyms

bNOS, nNOS, 2310005C01Rik, Nos-1, NO

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117781032-117958840 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 117943245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1171 (Q1171*)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]

AlphaFold

Q9Z0J4

Predicted Effect

probably null
Transcript: ENSMUST00000086451
AA Change: Q1171*

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: Q1171*

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 null
Transcript: ENSMUST00000102557
AA Change: Q1205*

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: Q1205*

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 null
Transcript: ENSMUST00000142742
AA Change: Q1171*

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: Q1171*

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 null
Transcript: ENSMUST00000171055
AA Change: Q1171*

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: Q1171*

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

noncoding transcript
Transcript: ENSMUST00000182216

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,660,217	S1264A	probably benign	Het
Adamts13	T	G	2: 27,008,711	Y1361*	probably null	Het
Ahrr	A	T	13: 74,214,212	D389E	probably damaging	Het
Alx3	T	C	3: 107,600,691	F172S	probably damaging	Het
Antxrl	A	G	14: 34,073,070	H485R	possibly damaging	Het
Aox4	A	G	1: 58,259,148	D1091G	probably null	Het
Btbd1	T	A	7: 81,805,810	Q271L	probably benign	Het
Cd209c	A	T	8: 3,944,953	N70K	probably benign	Het
Cdc14a	C	T	3: 116,294,750		probably null	Het
Cenpe	A	G	3: 135,248,151	M1641V	probably benign	Het
Clec2e	G	A	6: 129,100,827	T16I	probably benign	Het
Clp1	T	C	2: 84,725,875	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,426,148	F517I	probably damaging	Het
Dzip3	T	C	16: 48,938,474	N646S	probably damaging	Het
Ephx1	T	A	1: 180,995,978	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,495,767	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,440,849	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,141,783		probably null	Het
Ift81	G	T	5: 122,594,593	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Il6	T	G	5: 30,018,078	L114*	probably null	Het
Ism2	A	T	12: 87,299,581	M42K	probably benign	Het
Lhx5	A	G	5: 120,436,438	E269G	probably benign	Het
Marveld1	T	G	19: 42,147,995	M116R	possibly damaging	Het
Micall2	A	G	5: 139,706,886	S911P	probably damaging	Het
Mier1	G	A	4: 103,140,220	R195H	probably benign	Het
Muc2	T	A	7: 141,699,691		probably null	Het
Mybbp1a	A	G	11: 72,445,640	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,185,745	L179R	probably damaging	Het
Nrg1	T	A	8: 31,917,972	I78F	probably damaging	Het
Olfr1163	T	G	2: 88,070,729	T218P	probably benign	Het
Olfr220	T	G	1: 174,448,958	F112V	possibly damaging	Het
Plek2	C	T	12: 78,906,890		probably null	Het
Plod2	A	G	9: 92,595,272	H339R	probably damaging	Het
Pold1	C	T	7: 44,535,071	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,950,868	I868V	probably benign	Het
Prss54	C	A	8: 95,559,375	V357L	probably benign	Het
Rbbp8	T	A	18: 11,722,670	S625T	probably damaging	Het
Rgs1	A	T	1: 144,247,929	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,744,062	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,676,222	L1011F	probably damaging	Het
Slc19a3	G	A	1: 83,019,341	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991	L537Q	probably damaging	Het
Trim45	C	A	3: 100,931,734		probably benign	Het
Umodl1	G	T	17: 30,984,002	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,612	R87K	probably damaging	Het
Vmn1r78	T	A	7: 12,152,798	I112N	probably damaging	Het
Zeb2	T	G	2: 44,996,435	E825A	probably damaging	Het
Zfp930	A	T	8: 69,226,692	I50F	probably benign	Het

Other mutations in Nos1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Nos1	APN	5	117910100	missense	probably damaging	0.99
IGL01155:Nos1	APN	5	117945926	missense	probably damaging	0.99
IGL01462:Nos1	APN	5	117867709	missense	probably benign	0.10
IGL01464:Nos1	APN	5	117943192	missense	probably damaging	1.00
IGL01620:Nos1	APN	5	117905309	critical splice acceptor site	probably null
IGL01621:Nos1	APN	5	117945884	missense	probably damaging	1.00
IGL01796:Nos1	APN	5	117938274	nonsense	probably null
IGL02003:Nos1	APN	5	117905465	missense	probably damaging	1.00
IGL02274:Nos1	APN	5	117897780	missense	probably damaging	1.00
IGL02885:Nos1	APN	5	117895790	missense	probably damaging	1.00
IGL02947:Nos1	APN	5	117943317	missense	probably damaging	0.99
IGL03088:Nos1	APN	5	117867258	missense	probably damaging	1.00
IGL03166:Nos1	APN	5	117914452	splice site	probably benign
Crumple	UTSW	5	117895860	missense	possibly damaging	0.95
penurious	UTSW	5	117895902	missense	probably damaging	0.97
spendthrift	UTSW	5	117953783	splice site	probably benign
squanderer	UTSW	5	117910238	missense	probably damaging	0.97
R0007:Nos1	UTSW	5	117910088	missense	probably damaging	1.00
R0012:Nos1	UTSW	5	117893902	missense	probably damaging	1.00
R0080:Nos1	UTSW	5	117893878	missense	probably damaging	1.00
R0212:Nos1	UTSW	5	117910212	missense	possibly damaging	0.57
R0240:Nos1	UTSW	5	117867883	missense	probably benign
R0240:Nos1	UTSW	5	117867883	missense	probably benign
R0454:Nos1	UTSW	5	117943320	missense	probably benign	0.00
R0494:Nos1	UTSW	5	117905474	missense	probably damaging	1.00
R0882:Nos1	UTSW	5	117947447	missense	probably damaging	1.00
R1099:Nos1	UTSW	5	117923395	missense	probably damaging	0.96
R1243:Nos1	UTSW	5	117905472	missense	probably damaging	1.00
R1387:Nos1	UTSW	5	117953783	splice site	probably benign
R1432:Nos1	UTSW	5	117949619	splice site	probably benign
R1698:Nos1	UTSW	5	117867232	missense	probably benign	0.01
R1710:Nos1	UTSW	5	117895919	missense	probably damaging	1.00
R1859:Nos1	UTSW	5	117905462	missense	possibly damaging	0.83
R1973:Nos1	UTSW	5	117936426	missense	possibly damaging	0.52
R2084:Nos1	UTSW	5	117943245	missense	probably damaging	1.00
R2112:Nos1	UTSW	5	117936571	missense	probably benign	0.00
R4689:Nos1	UTSW	5	117879385	missense	probably benign	0.04
R4893:Nos1	UTSW	5	117952877	missense	possibly damaging	0.50
R4916:Nos1	UTSW	5	117947570	critical splice donor site	probably null
R4956:Nos1	UTSW	5	117947510	missense	probably benign
R4971:Nos1	UTSW	5	117943834	missense	probably benign	0.05
R4987:Nos1	UTSW	5	117926533	critical splice donor site	probably null
R5015:Nos1	UTSW	5	117867269	missense	probably damaging	1.00
R5031:Nos1	UTSW	5	117879313	missense	probably benign
R5137:Nos1	UTSW	5	117905313	missense	probably benign	0.29
R5481:Nos1	UTSW	5	117867754	missense	probably benign	0.06
R5541:Nos1	UTSW	5	117905394	missense	probably damaging	1.00
R5655:Nos1	UTSW	5	117923257	missense	probably damaging	1.00
R5866:Nos1	UTSW	5	117895902	missense	probably damaging	0.97
R5934:Nos1	UTSW	5	117936445	missense	probably damaging	0.99
R6158:Nos1	UTSW	5	117867574	missense	probably benign	0.05
R6225:Nos1	UTSW	5	117912852	missense	probably damaging	1.00
R6261:Nos1	UTSW	5	117936570	missense	probably benign
R6388:Nos1	UTSW	5	117914436	missense	possibly damaging	0.91
R6987:Nos1	UTSW	5	117895785	missense	probably benign	0.05
R7104:Nos1	UTSW	5	117947431	missense	probably damaging	1.00
R7136:Nos1	UTSW	5	117895860	missense	possibly damaging	0.95
R7276:Nos1	UTSW	5	117910238	missense	probably damaging	0.97
R7299:Nos1	UTSW	5	117867905	missense	possibly damaging	0.89
R7301:Nos1	UTSW	5	117867905	missense	possibly damaging	0.89
R7402:Nos1	UTSW	5	117949815	missense	probably benign	0.34
R7408:Nos1	UTSW	5	117867518	missense	probably damaging	1.00
R7618:Nos1	UTSW	5	117903944	missense	probably benign	0.01
R7689:Nos1	UTSW	5	117897727	missense	probably damaging	0.98
R7964:Nos1	UTSW	5	117900542	missense	probably damaging	1.00
R8962:Nos1	UTSW	5	117879340	missense	probably benign	0.05
R9147:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9148:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9149:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9246:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9248:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9249:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9254:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9255:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9256:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9283:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9320:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9321:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9326:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9327:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9331:Nos1	UTSW	5	117900524	missense	possibly damaging	0.59
R9379:Nos1	UTSW	5	117879337	missense	probably benign	0.44
R9432:Nos1	UTSW	5	117896806	missense	probably damaging	1.00
R9470:Nos1	UTSW	5	117926495	missense	probably damaging	1.00
R9581:Nos1	UTSW	5	117905394	missense	probably damaging	1.00
R9623:Nos1	UTSW	5	117949784	missense	probably benign	0.00
X0025:Nos1	UTSW	5	117943825	missense	probably benign	0.00
X0026:Nos1	UTSW	5	117943152	missense	probably damaging	1.00
Z1177:Nos1	UTSW	5	117923278	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATCTGGGACCTGGACTCAAGG -3'
(R):5'- CAGCCTGCTGTGTATCTTGC -3'

Sequencing Primer
(F):5'- TGGACTCAAGGCCCCTCTC -3'
(R):5'- CATCCTGCAAGATTTGGGATCTGATC -3'

Posted On

2015-12-21