Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Nos1'

221226

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

039986-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117781032-117958840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117936426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1046 (T1046A)

Ref Sequence

ENSEMBL: ENSMUSP00000099617 (fasta)

Gene Model

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

AlphaFold

Q9Z0J4

Predicted Effect

probably benign
Transcript: ENSMUST00000086451
AA Change: T1012A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: T1012A

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

possibly damaging
Transcript: ENSMUST00000102557
AA Change: T1046A

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: T1046A

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: T1012A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: T1012A

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: T1012A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: T1012A

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: 93.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,812,746	I143L	probably benign	Het
Acp7	T	A	7: 28,607,989	D481V	probably damaging	Het
AI597479	T	A	1: 43,111,126	I132K	probably benign	Het
Anxa13	T	C	15: 58,356,181		noncoding transcript	Het
Brca1	A	T	11: 101,526,403	C302S	probably benign	Het
Brd8	T	A	18: 34,608,013	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,459,777	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,102,563	C294S	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chat	C	T	14: 32,424,191	V342I	probably benign	Het
Chd6	A	G	2: 160,966,387	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,924,834		probably null	Het
Col6a3	A	T	1: 90,804,175	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,131,698	V54A	probably benign	Het
Dnah1	C	T	14: 31,265,391	W3550*	probably null	Het
Dscr3	T	C	16: 94,501,546	N267S	probably damaging	Het
Efl1	T	C	7: 82,762,877	S825P	probably damaging	Het
Fam189a1	A	T	7: 64,775,768	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405	E350K	probably benign	Het
Frem2	T	A	3: 53,652,232	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,603,286	T6A	probably benign	Het
Gm5814	A	T	17: 47,410,549	M63L	probably benign	Het
Gpr149	T	C	3: 62,530,795	K647R	probably benign	Het
Iqgap3	T	A	3: 88,083,928		probably null	Het
Kcnh3	T	C	15: 99,229,400	V359A	probably damaging	Het
Kit	G	A	5: 75,615,442	A295T	probably damaging	Het
Krt77	G	T	15: 101,861,244	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,149,076	S638*	probably null	Het
Neurl4	C	T	11: 69,909,292	P1091S	probably benign	Het
Nod2	A	T	8: 88,652,873	M8L	probably damaging	Het
Nsfl1c	G	T	2: 151,505,414	S202I	probably damaging	Het
Nuak2	A	T	1: 132,330,602	H257L	probably damaging	Het
Nwd1	T	C	8: 72,704,962	V1195A	possibly damaging	Het
Olfr243	T	A	7: 103,716,597	M1K	probably null	Het
Olfr370	T	C	8: 83,541,792	V216A	probably benign	Het
Olfr693	T	C	7: 106,678,219	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567	M257K	possibly damaging	Het
Olfr919	A	G	9: 38,697,868	V170A	probably damaging	Het
Pclo	G	T	5: 14,676,059		probably null	Het
Pnpla7	A	G	2: 25,016,617	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,576,934	T105I	probably benign	Het
Ptger1	C	A	8: 83,669,454	T380K	probably benign	Het
Ptk7	G	A	17: 46,586,807	Q282*	probably null	Het
Ptpn18	G	T	1: 34,463,109	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,024,391	D589G	probably damaging	Het
Rara	A	G	11: 98,971,670	N299S	possibly damaging	Het
Rpl13a	T	A	7: 45,125,995	K368*	probably null	Het
Rslcan18	T	C	13: 67,108,023		probably benign	Het
Rtel1	A	G	2: 181,351,626	Y731C	probably benign	Het
Sec16a	A	T	2: 26,426,489	S1666R	probably damaging	Het
Sis	A	G	3: 72,921,004	F1217S	probably damaging	Het
Slc10a7	T	A	8: 78,697,333		probably null	Het
Slc22a7	A	G	17: 46,437,090	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,663,605	I249V	probably benign	Het
Slc38a4	T	C	15: 96,999,597	K446E	probably benign	Het
Sned1	G	A	1: 93,265,073	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,066	*876C	probably null	Het
Spink11	A	G	18: 44,196,138	C14R	unknown	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tnfaip3	T	C	10: 19,004,504	N605S	probably damaging	Het
Trpc1	A	G	9: 95,723,255	M283T	probably benign	Het
Ttn	A	G	2: 76,714,362	S32799P	probably damaging	Het
Ttn	A	G	2: 76,720,099	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 88,056,047	Y189F	probably damaging	Het
Usp32	G	T	11: 85,103,931	L52I	probably benign	Het
Usp33	A	G	3: 152,360,286	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,025,026	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr43	A	G	17: 71,640,240	N364D	probably benign	Het
Zdbf2	C	A	1: 63,309,701	P2413Q	unknown	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
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
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
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'- CCATGATGGAGAGCTGACTG -3'
(R):5'- TGCAGCTAGAAGCCTTACCC -3'

Sequencing Primer
(F):5'- CTGACTGGAGGAGCTTGGCAG -3'
(R):5'- AAGCCTTACCCAGAGCCGTG -3'

Posted On

2014-08-25