Mutagenetix > Incidental Mutation

Incidental Mutation 'R6388:Nos1'

515630

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

044537-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118004904-118096905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118052501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 837 (E837G)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

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

AlphaFold

Q9Z0J4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086451
AA Change: E837G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: E837G

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: E837G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: E837G

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

noncoding transcript
Transcript: ENSMUST00000138554

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142742
AA Change: E837G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: E837G

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

possibly damaging
Transcript: ENSMUST00000171055
AA Change: E837G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: E837G

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

100% (35/35)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,410,230 (GRCm39)	R560W	probably benign	Het
Abi3	A	G	11: 95,724,464 (GRCm39)		probably null	Het
Ap1b1	T	C	11: 4,976,319 (GRCm39)	I449T	probably damaging	Het
Atpaf2	C	A	11: 60,307,833 (GRCm39)		probably benign	Het
Car5a	T	C	8: 122,653,910 (GRCm39)	Y118C	probably damaging	Het
Ccdc18	A	G	5: 108,349,214 (GRCm39)	D1002G	possibly damaging	Het
Ciao1	A	T	2: 127,088,396 (GRCm39)	C142*	probably null	Het
Clec14a	A	G	12: 58,314,243 (GRCm39)	*460R	probably null	Het
Defb30	T	A	14: 63,287,213 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,906,710 (GRCm39)	K4247R	probably benign	Het
Eif5b	G	A	1: 38,058,081 (GRCm39)	A128T	unknown	Het
Fam3b	T	C	16: 97,279,591 (GRCm39)	T113A	probably benign	Het
Fam98c	C	T	7: 28,854,728 (GRCm39)	R126Q	probably damaging	Het
Fastkd3	C	T	13: 68,738,319 (GRCm39)	L623F	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Gpatch8	A	T	11: 102,369,314 (GRCm39)	V1408E	probably damaging	Het
Icosl	T	A	10: 77,905,366 (GRCm39)	L3Q	possibly damaging	Homo
Igf2r	A	G	17: 12,902,787 (GRCm39)	V2421A	probably benign	Het
Iglon5	T	C	7: 43,127,556 (GRCm39)	T165A	possibly damaging	Het
Map3k11	A	G	19: 5,740,279 (GRCm39)	E2G	probably damaging	Het
Nipbl	A	T	15: 8,330,268 (GRCm39)	C2386S	probably damaging	Het
Npc1l1	T	C	11: 6,174,145 (GRCm39)	E720G	probably damaging	Het
Or1e35	A	G	11: 73,798,118 (GRCm39)	S67P	probably damaging	Het
Pla1a	T	A	16: 38,217,834 (GRCm39)	M385L	probably benign	Het
Saxo4	A	G	19: 10,459,665 (GRCm39)	V14A	probably damaging	Het
Setdb2	T	C	14: 59,662,146 (GRCm39)	T82A	probably benign	Het
Smarcd3	A	G	5: 24,801,024 (GRCm39)	F128L	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syvn1	T	A	19: 6,102,381 (GRCm39)	V483E	probably damaging	Het
Timm22	G	A	11: 76,297,945 (GRCm39)	V19I	probably benign	Het
Ttn	C	A	2: 76,621,189 (GRCm39)	D15716Y	probably damaging	Het
Ube3a	C	T	7: 58,954,669 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,272,051 (GRCm39)		probably null	Het
Vmn1r13	T	A	6: 57,186,903 (GRCm39)	F21I	probably benign	Het
Vps13d	T	C	4: 144,882,144 (GRCm39)	S1150G	probably benign	Het
Zp3	T	C	5: 136,011,548 (GRCm39)	V122A	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
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
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
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'- CACACTTGGGTTGAACCTGC -3'
(R):5'- ATTTGAGTCAGAGACCAGAACGTC -3'

Sequencing Primer
(F):5'- TTGAACCTGCAGCTGGGG -3'
(R):5'- TCAGCCACGGTGAAGCC -3'

Posted On

2018-05-04