Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02003:Nos1'

182172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nos1

Ensembl Gene

ENSMUSG00000029361

Gene Name

nitric oxide synthase 1, neuronal

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02003

Quality Score

Status

Chromosome

Chromosomal Location

118004904-118096905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118043530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 602 (S602P)

Ref Sequence

ENSEMBL: ENSMUSP00000099617 (fasta)

Gene Model

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

AlphaFold

Q9Z0J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086451
AA Change: S602P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: S602P

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: S602P

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

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: S602P

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: S602P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: S602P

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: S602P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: S602P

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	A	G	14: 105,736,392 (GRCm39)		noncoding transcript	Het
Adam1b	G	A	5: 121,639,354 (GRCm39)	L564F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Cnnm2	G	T	19: 46,856,998 (GRCm39)	G699W	probably damaging	Het
Crybg2	A	G	4: 133,799,767 (GRCm39)	K309R	probably benign	Het
Csnk2a1	C	T	2: 152,118,890 (GRCm39)	R333*	probably null	Het
Eif3m	C	T	2: 104,843,188 (GRCm39)		probably benign	Het
Fgfr2	T	C	7: 129,820,802 (GRCm39)	D244G	probably damaging	Het
H2-Q10	A	G	17: 35,781,338 (GRCm39)	I47V	probably benign	Het
Hmcn2	C	T	2: 31,318,994 (GRCm39)	T3898I	possibly damaging	Het
Isyna1	G	A	8: 71,049,407 (GRCm39)	V440M	possibly damaging	Het
Itpr3	A	G	17: 27,340,449 (GRCm39)	K2654E	probably damaging	Het
Lrrd1	C	T	5: 3,899,857 (GRCm39)	T54I	probably damaging	Het
Lrrk2	G	A	15: 91,615,694 (GRCm39)	V843M	probably damaging	Het
Morc2b	A	T	17: 33,357,298 (GRCm39)	V158D	probably benign	Het
Mroh7	T	C	4: 106,559,726 (GRCm39)	T734A	probably damaging	Het
Mylk3	T	C	8: 86,085,727 (GRCm39)	D136G	probably benign	Het
Nsmaf	T	C	4: 6,418,522 (GRCm39)	I428V	probably benign	Het
Nup93	T	G	8: 95,028,737 (GRCm39)	Y323*	probably null	Het
Or5ac21	G	A	16: 59,123,996 (GRCm39)	G161D	probably damaging	Het
Or7g21	A	T	9: 19,032,361 (GRCm39)	M34L	probably benign	Het
Or8b50	C	T	9: 38,518,136 (GRCm39)	A125V	probably damaging	Het
Ppm1m	C	A	9: 106,076,356 (GRCm39)	G13W	probably damaging	Het
Prok1	T	G	3: 107,142,979 (GRCm39)	H75P	probably damaging	Het
Ptprb	A	T	10: 116,203,410 (GRCm39)	I1774F	probably damaging	Het
Rasl10b	A	T	11: 83,308,679 (GRCm39)	E73V	probably damaging	Het
Rhbdl3	A	G	11: 80,228,342 (GRCm39)	T271A	possibly damaging	Het
Serpina3a	A	G	12: 104,082,259 (GRCm39)	M11V	probably benign	Het
Setdb2	T	C	14: 59,650,939 (GRCm39)	E464G	probably damaging	Het
Slc8a1	A	G	17: 81,735,625 (GRCm39)	I749T	possibly damaging	Het
Slco6d1	T	A	1: 98,408,493 (GRCm39)	I463N	probably damaging	Het
Sncb	A	T	13: 54,910,743 (GRCm39)	V51E	probably damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tet1	A	G	10: 62,652,179 (GRCm39)	V1613A	possibly damaging	Het
Vmn2r91	T	A	17: 18,327,921 (GRCm39)	I505K	probably benign	Het
Zfp110	A	T	7: 12,583,832 (GRCm39)	K827*	probably null	Het
Zfp438	A	T	18: 5,214,503 (GRCm39)	C152S	probably benign	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
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
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

Posted On

2014-05-07