Incidental Mutation 'R4689:Nos1'
ID 354766
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 041940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4689 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118017450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 271 (N271S)
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
AA Change: N271S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: N271S

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
AA Change: N271S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: N271S

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
AA Change: N271S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: N271S

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
AA Change: N271S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: N271S

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 0.0730 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,634,996 (GRCm39) V336L probably benign Het
Acbd4 T C 11: 102,996,194 (GRCm39) L165P possibly damaging Het
Adam10 T C 9: 70,673,236 (GRCm39) S456P possibly damaging Het
Adgre4 T C 17: 56,109,096 (GRCm39) F368L probably damaging Het
Ahcyl1 G T 3: 107,572,834 (GRCm39) Y528* probably null Het
Aldh3b3 G A 19: 4,014,516 (GRCm39) V84M probably damaging Het
Cdca8 C T 4: 124,824,896 (GRCm39) G78E probably damaging Het
Cry2 T C 2: 92,254,899 (GRCm39) D152G probably benign Het
Cyp2c67 T C 19: 39,627,032 (GRCm39) Y266C probably benign Het
Dkk4 T C 8: 23,115,336 (GRCm39) F62S probably benign Het
Dnah12 G A 14: 26,427,994 (GRCm39) V207I probably benign Het
Dthd1 T C 5: 63,000,255 (GRCm39) C526R probably damaging Het
Dubr A T 16: 50,552,866 (GRCm39) noncoding transcript Het
F5 T C 1: 163,979,542 (GRCm39) probably benign Het
Flcn A C 11: 59,691,870 (GRCm39) W260G possibly damaging Het
Fmnl1 G A 11: 103,084,562 (GRCm39) probably null Het
Frem2 A T 3: 53,455,056 (GRCm39) D2173E probably benign Het
Fstl4 C T 11: 52,959,477 (GRCm39) Q173* probably null Het
Gfra3 G A 18: 34,823,640 (GRCm39) P381S unknown Het
Gm28308 C A 6: 52,190,291 (GRCm39) probably benign Het
Gm8730 T A 8: 103,592,379 (GRCm39) noncoding transcript Het
Gzmd T C 14: 56,368,683 (GRCm39) probably null Het
Hexb A G 13: 97,317,600 (GRCm39) Y366H probably damaging Het
Hydin A T 8: 111,322,046 (GRCm39) H4566L probably benign Het
Ifi213 G A 1: 173,417,986 (GRCm39) T142I possibly damaging Het
Kif13b T A 14: 65,010,513 (GRCm39) C1271S probably damaging Het
Krtap9-5 G T 11: 99,840,286 (GRCm39) C329F unknown Het
Larp1 G T 11: 57,932,439 (GRCm39) G207W probably damaging Het
Lfng A G 5: 140,600,194 (GRCm39) D368G probably damaging Het
Mbd5 G A 2: 49,148,291 (GRCm39) V834I possibly damaging Het
Mterf1b T A 5: 4,247,263 (GRCm39) Y301* probably null Het
Myh7b T C 2: 155,472,434 (GRCm39) I1305T possibly damaging Het
Myo16 T C 8: 10,488,890 (GRCm39) V687A probably damaging Het
Naip2 A T 13: 100,285,320 (GRCm39) I1292N probably damaging Het
Nmral1 A G 16: 4,532,422 (GRCm39) F130L probably damaging Het
Nrap A G 19: 56,374,458 (GRCm39) S23P probably damaging Het
Or12d16-ps1 A T 17: 37,705,662 (GRCm39) N77I probably damaging Het
Or2aj4 A T 16: 19,385,263 (GRCm39) Y123* probably null Het
Or4e2 T C 14: 52,688,671 (GRCm39) I267T probably benign Het
Or6c210 T C 10: 129,496,185 (GRCm39) V170A probably benign Het
Pkdcc C G 17: 83,523,290 (GRCm39) C132W probably damaging Het
Plekhg6 G A 6: 125,350,144 (GRCm39) L265F probably benign Het
Prkaa1 A G 15: 5,208,177 (GRCm39) T473A probably benign Het
Prpf3 G A 3: 95,743,801 (GRCm39) Q451* probably null Het
Psma5-ps T A 10: 85,150,065 (GRCm39) noncoding transcript Het
Ptprh T A 7: 4,600,996 (GRCm39) D127V possibly damaging Het
Rab36 T C 10: 74,877,765 (GRCm39) probably null Het
Rasa1 A T 13: 85,386,282 (GRCm39) Y427* probably null Het
Rgs11 T C 17: 26,423,521 (GRCm39) probably null Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Shank2 G A 7: 143,974,342 (GRCm39) V1087I probably benign Het
Slc39a10 A C 1: 46,875,173 (GRCm39) M43R probably benign Het
Slc40a1 T A 1: 45,951,473 (GRCm39) Q228L probably benign Het
Slc45a1 A T 4: 150,722,996 (GRCm39) L296Q probably benign Het
Stambpl1 A G 19: 34,213,691 (GRCm39) T307A probably benign Het
Stt3a T C 9: 36,644,225 (GRCm39) T705A possibly damaging Het
Tec G A 5: 72,980,980 (GRCm39) probably benign Het
Trp63 A T 16: 25,684,012 (GRCm39) T300S possibly damaging Het
Vmn1r235 A G 17: 21,482,623 (GRCm39) H316R probably benign Het
Vmn2r1 A G 3: 64,012,074 (GRCm39) H645R possibly damaging Het
Wdfy4 A G 14: 32,831,505 (GRCm39) I907T possibly damaging Het
Zcchc10 A G 11: 53,218,151 (GRCm39) T33A probably benign Het
Zfp318 T A 17: 46,710,560 (GRCm39) V761D probably damaging Het
Zfp358 T C 8: 3,546,146 (GRCm39) probably null Het
Zfp661 G A 2: 127,419,468 (GRCm39) P224L probably damaging Het
Zfp937 T C 2: 150,078,706 (GRCm39) M33T probably damaging Het
Zfp955a T C 17: 33,461,040 (GRCm39) H364R 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
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'- CTCCTGATGAAGATGCCTGG -3'
(R):5'- TCCAGATTCGAAGCCAATCC -3'

Sequencing Primer
(F):5'- TCTGTACAGATGCAGGACTCC -3'
(R):5'- GATTCGAAGCCAATCCTTGCATC -3'
Posted On 2015-10-21