Incidental Mutation 'R7689:Nos1'
ID 593260
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 045753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118035792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 431 (D431G)
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably damaging
Transcript: ENSMUST00000086451
AA Change: D431G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: D431G

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 possibly damaging
Transcript: ENSMUST00000102557
AA Change: D431G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: D431G

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: D431G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: D431G

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: D431G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: D431G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,440 (GRCm39) F470Y probably damaging Het
Adra1a T C 14: 66,875,250 (GRCm39) L75P probably damaging Het
Agap1 T C 1: 89,762,188 (GRCm39) S560P probably damaging Het
Ahcyl T C 16: 45,974,970 (GRCm39) T136A probably benign Het
Arrdc4 T A 7: 68,391,623 (GRCm39) I215L probably damaging Het
Atad3a C T 4: 155,840,610 (GRCm39) A97T probably damaging Het
Bcas3 A T 11: 85,386,713 (GRCm39) T383S probably benign Het
C2cd5 G A 6: 142,995,951 (GRCm39) R379* probably null Het
Cacna1e G T 1: 154,274,549 (GRCm39) H2138N probably benign Het
Card14 A T 11: 119,216,328 (GRCm39) D303V possibly damaging Het
Ccdc202 T C 14: 96,119,252 (GRCm39) V3A probably benign Het
Cfhr1 T C 1: 139,475,478 (GRCm39) Y331C unknown Het
Chp1 G A 2: 119,415,146 (GRCm39) D183N probably benign Het
Cntn2 T C 1: 132,443,882 (GRCm39) T966A probably benign Het
Cpne9 T G 6: 113,266,965 (GRCm39) C133G probably damaging Het
Cspg4b A G 13: 113,515,948 (GRCm39) T121A Het
Cul7 C T 17: 46,963,747 (GRCm39) Q275* probably null Het
Cyp11b1 T C 15: 74,710,897 (GRCm39) D221G probably benign Het
Dmxl1 T A 18: 49,979,685 (GRCm39) F107I probably benign Het
Dnhd1 A G 7: 105,363,170 (GRCm39) I3911V probably benign Het
Eif1ad16 A G 12: 87,985,259 (GRCm39) Y95H probably damaging Het
Eloa T C 4: 135,736,595 (GRCm39) H551R probably benign Het
Fam171b T A 2: 83,709,732 (GRCm39) V468D probably benign Het
Fat2 A G 11: 55,200,666 (GRCm39) W803R probably damaging Het
Fbxo43 T C 15: 36,163,201 (GRCm39) D2G probably benign Het
Fbxo8 A G 8: 57,041,120 (GRCm39) T179A probably benign Het
Gdap1 A G 1: 17,231,623 (GRCm39) T323A probably damaging Het
Gm136 T C 4: 34,743,875 (GRCm39) N323S probably null Het
Gm6899 A T 11: 26,543,819 (GRCm39) T129S unknown Het
Gnb3 A T 6: 124,814,183 (GRCm39) C166S possibly damaging Het
Gpr61 A G 3: 108,057,966 (GRCm39) F232L probably damaging Het
Gpx8 T C 13: 113,179,711 (GRCm39) M197V probably benign Het
Gse1 G T 8: 121,295,217 (GRCm39) R446L unknown Het
Itch A T 2: 155,054,987 (GRCm39) T764S probably benign Het
Itch A G 2: 155,051,922 (GRCm39) K614E probably damaging Het
Itpkb T G 1: 180,241,544 (GRCm39) M738R probably damaging Het
Jph1 T A 1: 17,074,192 (GRCm39) K609* probably null Het
Kcns1 G A 2: 164,010,241 (GRCm39) R173C probably damaging Het
Larp4b C T 13: 9,186,834 (GRCm39) S54L probably damaging Het
Lonrf1 G T 8: 36,715,918 (GRCm39) S239* probably null Het
Lyst T G 13: 13,857,808 (GRCm39) probably null Het
Mccc1 T A 3: 36,015,132 (GRCm39) R663* probably null Het
Mcm3 A G 1: 20,876,997 (GRCm39) V646A probably benign Het
Mdn1 T C 4: 32,739,912 (GRCm39) L3722P probably damaging Het
Mmp27 T G 9: 7,579,002 (GRCm39) D392E probably damaging Het
Ms4a14 A G 19: 11,279,906 (GRCm39) I884T probably benign Het
Muc4 C T 16: 32,574,439 (GRCm39) T963I probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Mucl3 C A 17: 35,948,969 (GRCm39) S210I possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ndrg2 C T 14: 52,147,812 (GRCm39) A102T possibly damaging Het
Nhsl3 T C 4: 129,117,566 (GRCm39) N411S probably benign Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Otog T C 7: 45,901,480 (GRCm39) L393P probably damaging Het
Plcl1 A G 1: 55,736,627 (GRCm39) N656S probably damaging Het
Pole3 C A 4: 62,443,060 (GRCm39) V27F probably damaging Het
Prrt4 T A 6: 29,177,140 (GRCm39) I210F probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rbpms A T 8: 34,354,387 (GRCm39) S53T possibly damaging Het
Rgs7 C A 1: 174,949,296 (GRCm39) V203L probably benign Het
Riok1 A T 13: 38,229,263 (GRCm39) D150V probably damaging Het
Rrp1b T C 17: 32,274,900 (GRCm39) L335P probably benign Het
Rsph6a T G 7: 18,801,962 (GRCm39) I592S possibly damaging Het
Skor1 C T 9: 63,052,661 (GRCm39) G436D probably damaging Het
Slc17a8 T C 10: 89,433,319 (GRCm39) T51A possibly damaging Het
Slc22a8 T C 19: 8,585,248 (GRCm39) S266P probably damaging Het
Socs2 A G 10: 95,250,845 (GRCm39) probably benign Het
Tas2r106 A G 6: 131,655,668 (GRCm39) I61T possibly damaging Het
Tfap2a T C 13: 40,882,051 (GRCm39) N77D probably damaging Het
Tmem236 T A 2: 14,197,076 (GRCm39) L88Q probably damaging Het
Ttc41 A G 10: 86,595,088 (GRCm39) E954G probably damaging Het
Vmn1r34 G T 6: 66,613,994 (GRCm39) S248* probably null Het
Wipf1 T C 2: 73,262,789 (GRCm39) R483G probably damaging Het
Zfhx4 A G 3: 5,476,946 (GRCm39) N3187S probably benign Het
Zfp202 C A 9: 40,121,829 (GRCm39) P309T probably benign Het
Zfp39 T C 11: 58,781,469 (GRCm39) H431R probably damaging Het
Zfp658 T A 7: 43,224,102 (GRCm39) H792Q 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
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
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'- TAACCAGTCTGGCTCACTCC -3'
(R):5'- AGAAGGGGACAGCCTTTTCC -3'

Sequencing Primer
(F):5'- ACACGTATCCATCATGACCATTTC -3'
(R):5'- TTTTCCCCTGGCAGCTGAGG -3'
Posted On 2019-11-12