Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Nos1'

391686

Institutional Source

Beutler Lab

Gene Symbol

Nos1

Ensembl Gene

ENSMUSG00000029361

Gene Name

nitric oxide synthase 1, neuronal

Synonyms

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

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117781032-117958840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117879313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 247 (P247L)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

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

AlphaFold

Q9Z0J4

Predicted Effect

probably benign
Transcript: ENSMUST00000086451
AA Change: P247L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: P247L

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 benign
Transcript: ENSMUST00000102557
AA Change: P247L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: P247L

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 benign
Transcript: ENSMUST00000142742
AA Change: P247L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: P247L

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 benign
Transcript: ENSMUST00000171055
AA Change: P247L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: P247L

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	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
R4769:Nos1	UTSW	5	117943245	nonsense	probably null
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
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'- CTCCTGATGAAGATGCCTGG -3'
(R):5'- AATCCTTGCATCTCAGACCTGG -3'

Sequencing Primer
(F):5'- ACTCCCAGATCAAGGTTG -3'
(R):5'- ACGCCTCTGGGATCTCAAG -3'

Posted On

2016-06-06