Mutagenetix > Incidental Mutation

Incidental Mutation 'R1243:Nos1'

152061

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

039310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1243 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118004904-118096905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118043537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 604 (Y604C)

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: Y604C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: Y604C

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: Y604C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: Y604C

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: Y604C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: Y604C

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: Y604C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: Y604C

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 92.2%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	C	T	2: 25,468,570 (GRCm39)	R447Q	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,687 (GRCm39)	S1587G	probably benign	Het
Cyp24a1	T	C	2: 170,337,326 (GRCm39)	E154G	probably benign	Het
Disp2	C	T	2: 118,622,303 (GRCm39)	R1012C	probably damaging	Het
Dync2h1	A	G	9: 7,120,882 (GRCm39)	L2135P	probably benign	Het
Epb41l2	A	G	10: 25,364,941 (GRCm39)	R578G	possibly damaging	Het
Mus81	G	C	19: 5,535,145 (GRCm39)	R295G	probably benign	Het
Myh3	T	C	11: 66,981,279 (GRCm39)	I714T	possibly damaging	Het
Myof	A	G	19: 37,924,540 (GRCm39)	L1251P	probably damaging	Het
Or5ak22	T	C	2: 85,230,617 (GRCm39)	S87G	probably benign	Het
Pappa2	T	A	1: 158,672,670 (GRCm39)	Q1091L	probably damaging	Het
Pdia4	C	T	6: 47,784,054 (GRCm39)	D117N	probably damaging	Het
Relch	T	C	1: 105,678,089 (GRCm39)	L1114P	probably damaging	Het
Slc34a1	G	A	13: 55,559,944 (GRCm39)	A304T	possibly damaging	Het
Vmn2r98	A	T	17: 19,286,210 (GRCm39)	E236V	possibly damaging	Het
Zfp956	A	G	6: 47,932,985 (GRCm39)	T87A	probably 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
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
R5866:Nos1	UTSW	5	118,033,967 (GRCm39)	missense	probably damaging	0.97
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'- CATCTCCATCCTGAAGATGCTGCTC -3'
(R):5'- GCAAGGTGCTCACACAGTGTTCTC -3'

Sequencing Primer
(F):5'- GATGCTGCTCAGGGGATAC -3'
(R):5'- CACACAGTGTTCTCTGTGGTG -3'

Posted On

2014-01-29