Incidental Mutation 'R1387:Nos1'
ID 162418
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 039449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1387 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 118091848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably benign
Transcript: ENSMUST00000086451
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361

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 benign
Transcript: ENSMUST00000102557
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361

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 probably benign
Transcript: ENSMUST00000142742
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361

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 benign
Transcript: ENSMUST00000171055
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Cntnap2 T C 6: 47,084,848 (GRCm39) V1103A probably benign Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,182,414 (GRCm39) A6T probably damaging Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Glb1 T A 9: 114,249,431 (GRCm39) W5R probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mecp2 G A X: 73,079,394 (GRCm39) P362S possibly damaging Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Ptpdc1 A T 13: 48,739,796 (GRCm39) V545E possibly damaging Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown 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
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'- GGGACTCGATTCTCGCTTTCCCAG -3'
(R):5'- AGGACCCAGCGGTTTCATGCAC -3'

Sequencing Primer
(F):5'- ttgtgaaccgcctcacc -3'
(R):5'- GGTTTCATGCACCGCAAC -3'
Posted On 2014-03-17