Incidental Mutation 'R5934:Nos1'
ID 462094
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 044128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5934 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118074510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1052 (H1052R)
Ref Sequence ENSEMBL: ENSMUSP00000099617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably damaging
Transcript: ENSMUST00000086451
AA Change: H1018R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: H1018R

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: H1052R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: H1052R

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 damaging
Transcript: ENSMUST00000142742
AA Change: H1018R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: H1018R

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: H1018R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: H1018R

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,980,806 (GRCm39) V596A probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Afg1l G A 10: 42,194,682 (GRCm39) T370M probably damaging Het
Aldh2 T C 5: 121,717,678 (GRCm39) T118A probably benign Het
Apcdd1 C T 18: 63,084,940 (GRCm39) A379V possibly damaging Het
Atp1a3 T C 7: 24,678,299 (GRCm39) probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cd96 G T 16: 45,938,266 (GRCm39) D66E probably benign Het
Cdh5 T A 8: 104,864,900 (GRCm39) V506E probably benign Het
Cep70 T C 9: 99,136,318 (GRCm39) I7T probably benign Het
Ckb A T 12: 111,636,663 (GRCm39) V237D probably damaging Het
Col6a6 C T 9: 105,644,274 (GRCm39) D1306N probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Ddhd2 A G 8: 26,243,140 (GRCm39) S19P probably damaging Het
Dnah17 G T 11: 117,931,928 (GRCm39) D3681E probably benign Het
Dop1a T A 9: 86,424,495 (GRCm39) Y2068* probably null Het
Fryl T C 5: 73,248,060 (GRCm39) Y1019C probably damaging Het
Fsip2 G A 2: 82,817,092 (GRCm39) C4275Y possibly damaging Het
Gapdh A G 6: 125,139,664 (GRCm39) V202A probably damaging Het
Gmeb2 T C 2: 180,897,367 (GRCm39) I250M possibly damaging Het
Gpr88 C T 3: 116,045,958 (GRCm39) G118R probably damaging Het
Hdhd3 C A 4: 62,417,607 (GRCm39) V190L possibly damaging Het
Heg1 C T 16: 33,547,289 (GRCm39) T461M probably damaging Het
Hspg2 A G 4: 137,246,083 (GRCm39) Y989C probably damaging Het
Ift74 A T 4: 94,520,971 (GRCm39) M175L probably benign Het
Kcnh3 G A 15: 99,124,414 (GRCm39) R101Q possibly damaging Het
Kif20b G T 19: 34,918,721 (GRCm39) V702F probably benign Het
Klhl1 A G 14: 96,360,651 (GRCm39) probably null Het
Lrrk2 T C 15: 91,618,249 (GRCm39) V916A probably benign Het
Macir A T 1: 97,573,655 (GRCm39) C137S possibly damaging Het
Mpp4 A T 1: 59,160,535 (GRCm39) D589E probably damaging Het
Msl2 T C 9: 100,979,017 (GRCm39) C464R probably damaging Het
Mucl2 A T 15: 103,927,832 (GRCm39) S42T probably benign Het
Musk T A 4: 58,373,613 (GRCm39) L838Q probably damaging Het
Or10d4b C T 9: 39,534,479 (GRCm39) T20I probably damaging Het
Or10v1 A G 19: 11,874,293 (GRCm39) R303G probably benign Het
Or1j20 T A 2: 36,760,280 (GRCm39) I234N probably benign Het
Or2at1 A T 7: 99,416,596 (GRCm39) I76F probably damaging Het
Or4d2 T C 11: 87,784,049 (GRCm39) R234G possibly damaging Het
Or52e15 C A 7: 104,645,385 (GRCm39) C242F probably damaging Het
Or56a5 G A 7: 104,792,867 (GRCm39) S211F probably benign Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8u8 T A 2: 86,012,446 (GRCm39) Q3L probably benign Het
Pard3 T G 8: 128,115,819 (GRCm39) L636R probably damaging Het
Pigr A T 1: 130,772,264 (GRCm39) S161C probably damaging Het
Polr1e T C 4: 45,029,369 (GRCm39) S325P probably damaging Het
Prrc2a A T 17: 35,369,060 (GRCm39) V1992E probably damaging Het
Psma5-ps T C 10: 85,150,145 (GRCm39) noncoding transcript Het
Ptpdc1 T C 13: 48,739,845 (GRCm39) K468E probably benign Het
Rab22a A G 2: 173,503,297 (GRCm39) T37A probably damaging Het
Rai14 T A 15: 10,575,245 (GRCm39) K571I probably damaging Het
Reck G A 4: 43,930,979 (GRCm39) G660D probably damaging Het
Rgs4 T C 1: 169,572,807 (GRCm39) D43G possibly damaging Het
Ryr2 A T 13: 11,599,040 (GRCm39) D4645E probably damaging Het
Sf3b3 A G 8: 111,550,102 (GRCm39) S639P probably damaging Het
Slc27a4 G T 2: 29,701,672 (GRCm39) R430L probably damaging Het
Slfn1 T A 11: 83,012,770 (GRCm39) Y295* probably null Het
Slfn5 C T 11: 82,847,418 (GRCm39) S101L probably damaging Het
Sult1d1 CCATG CCATGGCATG 5: 87,707,629 (GRCm39) probably null Het
Tchh A T 3: 93,351,419 (GRCm39) Q286H unknown Het
Tmem184c A T 8: 78,331,352 (GRCm39) Y172* probably null Het
Tsc22d1 T G 14: 76,656,266 (GRCm39) M833R possibly damaging Het
Ugt1a7c G T 1: 88,023,601 (GRCm39) L253F probably damaging Het
Usp19 C T 9: 108,369,766 (GRCm39) probably benign Het
Xirp2 T A 2: 67,355,148 (GRCm39) I3303K possibly damaging Het
Zfp574 G A 7: 24,779,757 (GRCm39) A260T probably benign Het
Zswim6 A G 13: 107,880,642 (GRCm39) noncoding transcript 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
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'- CCATGATGGAGAGCTGACTG -3'
(R):5'- TGCAGCTAGAAGCCTTACCC -3'

Sequencing Primer
(F):5'- CTGACTGGAGGAGCTTGGCAG -3'
(R):5'- AAGCCTTACCCAGAGCCGTG -3'
Posted On 2017-02-28