Incidental Mutation 'R5655:Nos1'
ID 442238
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 043301-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5655 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 118061322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 883 (G883C)
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: G883C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: G883C

DomainStartEndE-ValueType
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: G917C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: G917C

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000142742
AA Change: G883C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: G883C

DomainStartEndE-ValueType
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: G883C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: G883C

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,746 (GRCm39) I99F probably benign Het
Acan G A 7: 78,749,791 (GRCm39) D1521N possibly damaging Het
Acap3 C T 4: 155,981,076 (GRCm39) T53I probably benign Het
Actr3b G T 5: 26,053,366 (GRCm39) V232F probably damaging Het
Adgrl1 G A 8: 84,665,230 (GRCm39) V1311M possibly damaging Het
Arhgap23 T C 11: 97,343,372 (GRCm39) probably null Het
Asns A C 6: 7,685,309 (GRCm39) M116R probably benign Het
Asprv1 A T 6: 86,605,464 (GRCm39) E103D probably benign Het
Atxn2 T C 5: 121,885,489 (GRCm39) I232T probably damaging Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Bckdha A G 7: 25,329,789 (GRCm39) Y414H probably damaging Het
Bod1l G A 5: 41,974,387 (GRCm39) T2309M probably benign Het
Cacna2d1 T A 5: 16,507,333 (GRCm39) F361I probably damaging Het
Cdc45 C T 16: 18,626,029 (GRCm39) probably null Het
Cog4 A G 8: 111,589,939 (GRCm39) Y368C probably damaging Het
Cplx3 C T 9: 57,523,258 (GRCm39) V100M probably damaging Het
Cyp4a12b C G 4: 115,290,994 (GRCm39) H341D probably damaging Het
Ddx10 A T 9: 53,120,987 (GRCm39) probably null Het
Dnah12 A T 14: 26,431,424 (GRCm39) Y414F probably benign Het
Dync1h1 A G 12: 110,595,496 (GRCm39) K1445R probably benign Het
Dync2h1 A C 9: 7,148,659 (GRCm39) D928E probably benign Het
Dzip1 T A 14: 119,124,644 (GRCm39) probably null Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fgf14 T C 14: 124,429,828 (GRCm39) N36D probably benign Het
Fmnl3 A T 15: 99,219,743 (GRCm39) F668L probably damaging Het
Foxl2 C T 9: 98,838,048 (GRCm39) P112L probably damaging Het
Foxp2 T G 6: 15,197,112 (GRCm39) H51Q probably damaging Het
Frem3 A T 8: 81,339,323 (GRCm39) T539S probably benign Het
Ftcd G T 10: 76,423,937 (GRCm39) G493C probably damaging Het
Gab2 A G 7: 96,948,099 (GRCm39) S230G probably benign Het
Gabra1 A T 11: 42,073,750 (GRCm39) probably null Het
Gm14496 A T 2: 181,637,975 (GRCm39) I350L probably benign Het
Idh2 A C 7: 79,747,996 (GRCm39) C235G probably damaging Het
Ift140 C T 17: 25,264,038 (GRCm39) L514F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lamc3 C A 2: 31,815,729 (GRCm39) R1142S probably benign Het
Lmod2 A T 6: 24,603,853 (GRCm39) H276L possibly damaging Het
Lrrc37a T A 11: 103,389,381 (GRCm39) I2015L probably benign Het
Mcf2l A G 8: 13,060,444 (GRCm39) E764G probably damaging Het
Mcph1 G A 8: 18,838,326 (GRCm39) M749I probably benign Het
Msh2 C T 17: 88,026,871 (GRCm39) A789V possibly damaging Het
Ndufa2 T C 18: 36,877,519 (GRCm39) I19V probably benign Het
Neurod4 T A 10: 130,107,002 (GRCm39) K91* probably null Het
Npdc1 A T 2: 25,297,692 (GRCm39) H121L possibly damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or3a10 A C 11: 73,935,160 (GRCm39) Y313* probably null Het
Orc1 A G 4: 108,450,636 (GRCm39) I123V probably benign Het
P2ry13 C T 3: 59,117,260 (GRCm39) V173M possibly damaging Het
Pigk T A 3: 152,445,858 (GRCm39) N156K probably damaging Het
Pik3ap1 A T 19: 41,286,680 (GRCm39) F569Y possibly damaging Het
Pla2g4c T A 7: 13,063,889 (GRCm39) probably null Het
Plk3 A G 4: 116,988,677 (GRCm39) L324P probably damaging Het
Pom121 A G 5: 135,421,171 (GRCm39) S260P unknown Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prrt2 G A 7: 126,618,574 (GRCm39) A297V probably damaging Het
Prss47 A T 13: 65,192,857 (GRCm39) V308E probably damaging Het
Ptbp2 T C 3: 119,517,806 (GRCm39) I139V probably benign Het
Ptprz1 A T 6: 22,999,772 (GRCm39) M621L probably benign Het
Rab6a G A 7: 100,257,501 (GRCm39) probably null Het
Ranbp1 C T 16: 18,059,669 (GRCm39) D127N probably damaging Het
Rnpepl1 G T 1: 92,847,032 (GRCm39) R272L probably damaging Het
Slc27a2 T C 2: 126,420,859 (GRCm39) L314P probably damaging Het
Slc6a5 A T 7: 49,606,218 (GRCm39) M709L probably benign Het
Smarcc1 A T 9: 109,986,412 (GRCm39) S238C probably null Het
Snx29 C T 16: 11,573,185 (GRCm39) L476F probably damaging Het
Sorbs2 T C 8: 46,194,618 (GRCm39) probably null Het
St6galnac2 T C 11: 116,575,972 (GRCm39) N160D probably damaging Het
Thsd7b A G 1: 129,556,671 (GRCm39) probably null Het
Trpc4ap G A 2: 155,495,547 (GRCm39) T306I possibly damaging Het
Ubr5 T G 15: 38,015,337 (GRCm39) Y891S probably damaging Het
Vmn1r220 A G 13: 23,368,298 (GRCm39) F133L probably benign Het
Vmn1r56 T A 7: 5,198,700 (GRCm39) I306F possibly damaging Het
Vmn1r67 T C 7: 10,181,315 (GRCm39) V193A probably benign Het
Yipf1 T A 4: 107,202,354 (GRCm39) V239E probably damaging Het
Zfp7 G T 15: 76,775,629 (GRCm39) C557F probably damaging Het
Other mutations in Nos1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TACCTTCCTATTGGCGAGGAG -3'
(R):5'- GGTCCCATACCTTGAAGACTTTC -3'

Sequencing Primer
(F):5'- GAGGAAATTGGCTTTATAGGACTC -3'
(R):5'- TCTTAGCCCAGGTCCTGAAAG -3'
Posted On 2016-11-09