Incidental Mutation 'R6158:Nos1'
ID 489694
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 044305-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6158 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118005639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 120 (I120L)
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000138579] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably benign
Transcript: ENSMUST00000086451
AA Change: I120L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: I120L

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: I120L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: I120L

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: ENSMUST00000124194
Predicted Effect probably benign
Transcript: ENSMUST00000138579
SMART Domains Protein: ENSMUSP00000138176
Gene: ENSMUSG00000029361

DomainStartEndE-ValueType
PDZ 26 80 1.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142742
AA Change: I120L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: I120L

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: I120L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: I120L

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 0.0754 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.5%
  • 20x: 92.6%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,217,410 (GRCm39) V793A possibly damaging Het
2900092C05Rik A G 7: 12,246,599 (GRCm39) T32A probably benign Het
Adprhl1 C T 8: 13,274,977 (GRCm39) V594M possibly damaging Het
Ano3 A T 2: 110,496,220 (GRCm39) Y845N probably damaging Het
Arhgap24 A T 5: 103,040,778 (GRCm39) I575L probably benign Het
Aurka A C 2: 172,205,516 (GRCm39) probably null Het
C1qtnf5 A T 9: 44,020,267 (GRCm39) probably benign Het
Cacnb2 A G 2: 14,990,412 (GRCm39) D454G possibly damaging Het
Chchd5 T C 2: 128,972,437 (GRCm39) L87P probably damaging Het
Col7a1 G T 9: 108,793,671 (GRCm39) R1377L unknown Het
Cpne8 A C 15: 90,456,191 (GRCm39) S191A probably damaging Het
Dhx30 A T 9: 109,916,098 (GRCm39) I671N probably damaging Het
Dnah12 A T 14: 26,495,642 (GRCm39) K1423N possibly damaging Het
Dnm3 T C 1: 162,148,556 (GRCm39) M272V probably damaging Het
Fat4 A T 3: 39,037,411 (GRCm39) S3688C possibly damaging Het
Frmpd1 A T 4: 45,285,401 (GRCm39) L1407F probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Gm11565 T A 11: 99,805,744 (GRCm39) C45* probably null Het
Gngt1 A T 6: 3,994,311 (GRCm39) R30* probably null Het
Htt T C 5: 35,064,430 (GRCm39) I2943T possibly damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lmo7 T A 14: 102,137,573 (GRCm39) D247E probably benign Het
Mastl G T 2: 23,022,784 (GRCm39) N646K possibly damaging Het
Mei4 G T 9: 81,809,629 (GRCm39) L237F probably damaging Het
Mettl27 C T 5: 134,969,430 (GRCm39) P170S possibly damaging Het
Mgam T A 6: 40,734,648 (GRCm39) I896K probably damaging Het
Mix23 T A 16: 35,910,299 (GRCm39) V118D probably damaging Het
Moxd1 T A 10: 24,160,675 (GRCm39) C443S probably damaging Het
Myo18b A T 5: 113,022,038 (GRCm39) N451K probably benign Het
Myo7b T C 18: 32,121,602 (GRCm39) I768V probably benign Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or1j15 A T 2: 36,459,128 (GRCm39) T173S probably benign Het
Or2aj5 C A 16: 19,424,675 (GRCm39) V248F probably damaging Het
Or4c11c T C 2: 88,661,490 (GRCm39) F10L probably damaging Het
Or5t15 A G 2: 86,681,859 (GRCm39) L61P possibly damaging Het
Or8g50 C T 9: 39,648,372 (GRCm39) T87I probably benign Het
Pdzph1 T G 17: 59,280,622 (GRCm39) Q553H probably damaging Het
Piwil1 T A 5: 128,824,940 (GRCm39) L546* probably null Het
Pla2g4f T C 2: 120,131,552 (GRCm39) T724A probably benign Het
Ralgapa2 A T 2: 146,266,596 (GRCm39) M660K possibly damaging Het
Rgsl1 T C 1: 153,679,767 (GRCm39) D103G possibly damaging Het
Rnf186 A G 4: 138,694,565 (GRCm39) D35G probably damaging Het
Rock2 A G 12: 17,004,919 (GRCm39) D424G probably benign Het
Scg2 A T 1: 79,413,117 (GRCm39) D495E probably damaging Het
Slc39a2 G A 14: 52,131,681 (GRCm39) probably null Het
Snrnp48 T A 13: 38,394,212 (GRCm39) Y100* probably null Het
Spaca1 A G 4: 34,029,176 (GRCm39) M99T probably damaging Het
Specc1 T G 11: 62,008,950 (GRCm39) F235L probably damaging Het
St13 A T 15: 81,283,802 (GRCm39) probably null Het
Swap70 T A 7: 109,869,230 (GRCm39) M341K probably damaging Het
Synj2 A G 17: 6,036,487 (GRCm39) D67G probably benign Het
Tmem135 T A 7: 88,805,652 (GRCm39) I251F probably benign Het
Tmem87a A T 2: 120,190,584 (GRCm39) probably null Het
Tom1l2 C T 11: 60,123,753 (GRCm39) D128N probably damaging Het
Tpx2 C A 2: 152,715,024 (GRCm39) H82N probably benign Het
Trip12 A T 1: 84,738,733 (GRCm39) C738S possibly damaging Het
Ttyh1 A G 7: 4,128,561 (GRCm39) T153A probably benign Het
Utrn C T 10: 12,566,566 (GRCm39) G1199S probably benign Het
Vmn1r8 T A 6: 57,013,274 (GRCm39) N108K probably benign Het
Vmn2r63 T A 7: 42,583,104 (GRCm39) D37V probably damaging Het
Vwce C T 19: 10,621,585 (GRCm39) R206C possibly damaging Het
Wrn G T 8: 33,809,200 (GRCm39) F265L probably damaging Het
Zfp472 T A 17: 33,197,363 (GRCm39) C479* probably null Het
Zfp831 A T 2: 174,485,651 (GRCm39) T109S possibly damaging Het
Znfx1 G T 2: 166,898,646 (GRCm39) Q93K probably benign 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
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
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'- CATCTCAGATCTGATCCGAGG -3'
(R):5'- ATTAGCCTGGGAGACTGAGC -3'

Sequencing Primer
(F):5'- CTCAGATCTGATCCGAGGAGGTG -3'
(R):5'- AGACTGAGCCGGCTCCC -3'
Posted On 2017-10-10