Incidental Mutation 'R4971:Nos1'
ID 384441
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 042566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4971 (G1)
Quality Score 173
Status Not validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118081899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1240 (V1240A)
Ref Sequence ENSEMBL: ENSMUSP00000099617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably benign
Transcript: ENSMUST00000086451
AA Change: V1206A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: V1206A

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: V1240A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: V1240A

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: V1206A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: V1206A

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: V1206A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: V1206A

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 noncoding transcript
Transcript: ENSMUST00000182216
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,190 (GRCm39) F1147L probably damaging Het
Abca2 T C 2: 25,332,006 (GRCm39) S1373P probably damaging Het
Abca9 A T 11: 110,042,874 (GRCm39) S392T probably benign Het
Abcd2 T C 15: 91,047,313 (GRCm39) D580G probably benign Het
Actl9 T A 17: 33,652,882 (GRCm39) L314H probably damaging Het
Adamtsl1 T C 4: 86,255,168 (GRCm39) F746L probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Cdkl3 T C 11: 51,901,995 (GRCm39) V68A possibly damaging Het
Cnot1 A G 8: 96,448,254 (GRCm39) F2266S probably damaging Het
Colq T C 14: 31,267,034 (GRCm39) R159G probably damaging Het
Ctse A T 1: 131,592,130 (GRCm39) D152V probably damaging Het
Cul7 G T 17: 46,970,045 (GRCm39) M1011I probably benign Het
Cyb5r4 G T 9: 86,939,224 (GRCm39) V336L possibly damaging Het
Dync2h1 A T 9: 7,131,949 (GRCm39) H1619Q probably benign Het
Eif2ak1 A G 5: 143,818,986 (GRCm39) K216E probably damaging Het
F5 A T 1: 164,021,755 (GRCm39) H1410L probably benign Het
Frem2 T C 3: 53,446,604 (GRCm39) Y2388C probably damaging Het
Fsip2 C T 2: 82,816,222 (GRCm39) T3985M probably benign Het
Gak T C 5: 108,744,672 (GRCm39) Y535C probably damaging Het
Gzmc G T 14: 56,469,826 (GRCm39) P158Q probably damaging Het
Hook3 A G 8: 26,572,607 (GRCm39) Y135H probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A T 6: 125,020,961 (GRCm39) M28L probably benign Het
Irs3 T A 5: 137,642,754 (GRCm39) D228V probably damaging Het
Jade1 T A 3: 41,555,836 (GRCm39) I301N probably damaging Het
Kif13b T A 14: 64,995,011 (GRCm39) M921K possibly damaging Het
Kmt2c A G 5: 25,515,870 (GRCm39) S2658P probably benign Het
Map3k4 A G 17: 12,468,382 (GRCm39) probably null Het
Map4k5 C T 12: 69,899,493 (GRCm39) V53I possibly damaging Het
Mdn1 T C 4: 32,739,827 (GRCm39) S3694P probably damaging Het
Mroh7 A G 4: 106,548,749 (GRCm39) V1038A probably benign Het
Muc5ac T C 7: 141,370,015 (GRCm39) V3185A possibly damaging Het
Mup5 T A 4: 61,751,297 (GRCm39) N117I probably benign Het
Myo19 T A 11: 84,783,023 (GRCm39) M179K probably damaging Het
Myo1c A G 11: 75,562,414 (GRCm39) Y902C probably damaging Het
Nf1 T A 11: 79,335,469 (GRCm39) I977K probably damaging Het
Nr3c1 T C 18: 39,619,930 (GRCm39) D119G probably damaging Het
Oga C A 19: 45,758,485 (GRCm39) probably null Het
Or4c107 A T 2: 88,788,863 (GRCm39) N18Y probably damaging Het
Pdlim2 A G 14: 70,405,208 (GRCm39) V219A probably damaging Het
Pira13 T A 7: 3,825,805 (GRCm39) M355L probably benign Het
Polr1g T C 7: 19,091,487 (GRCm39) N207D probably benign Het
Prdx1 T C 4: 116,549,128 (GRCm39) probably null Het
Rbfox1 C T 16: 7,111,952 (GRCm39) R173C probably damaging Het
Rbp3 T A 14: 33,676,427 (GRCm39) V125D probably damaging Het
Resf1 T C 6: 149,227,097 (GRCm39) probably benign Het
Rhot1 T A 11: 80,124,300 (GRCm39) I154K probably damaging Het
Runx1t1 C T 4: 13,837,978 (GRCm39) R129C probably damaging Het
Setbp1 A G 18: 78,901,382 (GRCm39) S762P probably benign Het
Slc13a3 A G 2: 165,290,619 (GRCm39) I67T probably damaging Het
Tbc1d2b A T 9: 90,100,923 (GRCm39) M689K probably benign Het
Top2a T C 11: 98,884,667 (GRCm39) Y1517C probably damaging Het
Txndc2 A T 17: 65,945,849 (GRCm39) N109K probably damaging Het
Tyk2 A G 9: 21,031,797 (GRCm39) probably null Het
Wdfy3 A T 5: 102,096,838 (GRCm39) L320* probably null Het
Zfp456 T C 13: 67,514,995 (GRCm39) E237G probably benign Het
Zscan10 A G 17: 23,826,147 (GRCm39) E103G possibly 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
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'- TATGCAGCTCACAGGGGTAG -3'
(R):5'- CCCTAACAATGCAGAATGATGC -3'

Sequencing Primer
(F):5'- TCACAGGGGTAGCTCACAG -3'
(R):5'- GGTGTTACTCCAGCATCATCTAG -3'
Posted On 2016-04-27