Incidental Mutation 'R6888:Nos3'
ID 537035
Institutional Source Beutler Lab
Gene Symbol Nos3
Ensembl Gene ENSMUSG00000028978
Gene Name nitric oxide synthase 3, endothelial cell
Synonyms 2310065A03Rik, ecNOS, eNOS, Nos-3
MMRRC Submission 044982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6888 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 24569808-24589472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24588333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1060 (V1060A)
Ref Sequence ENSEMBL: ENSMUSP00000110742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000059401] [ENSMUST00000115090]
AlphaFold P70313
Predicted Effect probably benign
Transcript: ENSMUST00000030834
AA Change: V1060A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: V1060A

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
Pfam:NO_synthase 118 480 1.7e-183 PFAM
Pfam:Flavodoxin_1 521 697 4.8e-54 PFAM
Pfam:FAD_binding_1 750 978 2.1e-82 PFAM
Pfam:NAD_binding_1 1010 1124 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059401
SMART Domains Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 22 38 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
transmembrane domain 279 296 N/A INTRINSIC
Pfam:APG9 321 681 1.2e-100 PFAM
low complexity region 782 799 N/A INTRINSIC
low complexity region 838 847 N/A INTRINSIC
low complexity region 854 871 N/A INTRINSIC
low complexity region 876 889 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115090
AA Change: V1060A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: V1060A

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
Pfam:NO_synthase 114 485 9e-214 PFAM
Pfam:Flavodoxin_1 521 697 3.8e-54 PFAM
Pfam:FAD_binding_1 750 978 1.6e-79 PFAM
Pfam:NAD_binding_1 1010 1091 5.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 T C 11: 120,238,141 (GRCm39) Y190C probably damaging Het
Adgrv1 A G 13: 81,656,788 (GRCm39) I2902T probably damaging Het
AI429214 G A 8: 37,460,987 (GRCm39) G45D possibly damaging Het
Ambra1 A G 2: 91,599,372 (GRCm39) D164G probably damaging Het
Ap3b1 A T 13: 94,545,299 (GRCm39) Q184L probably benign Het
Arhgef17 T C 7: 100,580,027 (GRCm39) D307G possibly damaging Het
AY761185 A T 8: 21,434,571 (GRCm39) Y52* probably null Het
Bfsp1 A G 2: 143,668,639 (GRCm39) S647P probably benign Het
C130073F10Rik A G 4: 101,747,453 (GRCm39) V192A probably benign Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Ccdc170 T C 10: 4,496,854 (GRCm39) V458A possibly damaging Het
Ccdc187 G A 2: 26,179,746 (GRCm39) R238W probably damaging Het
Cdh1 A G 8: 107,384,946 (GRCm39) S380G probably benign Het
Cdk5rap3 T C 11: 96,807,018 (GRCm39) H4R probably benign Het
Cftr G A 6: 18,313,729 (GRCm39) probably null Het
Cstpp1 A G 2: 91,252,239 (GRCm39) Y41H probably damaging Het
Dnajc16 A G 4: 141,504,303 (GRCm39) V219A probably benign Het
Drd3 A T 16: 43,637,502 (GRCm39) I266F probably benign Het
Dut A G 2: 125,099,044 (GRCm39) D177G probably benign Het
Esr1 A G 10: 4,807,076 (GRCm39) I331V probably benign Het
Gm11110 A G 17: 57,409,143 (GRCm39) probably benign Het
Grm7 G T 6: 111,335,314 (GRCm39) G575V possibly damaging Het
Heatr3 A G 8: 88,897,512 (GRCm39) Y531C probably damaging Het
Igfn1 A G 1: 135,910,218 (GRCm39) V122A probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Kntc1 T C 5: 123,949,373 (GRCm39) Y1915H probably damaging Het
Lamc1 A T 1: 153,138,238 (GRCm39) D205E probably damaging Het
Limch1 C T 5: 67,179,269 (GRCm39) T713I probably benign Het
Lrp1b A G 2: 41,361,138 (GRCm39) I555T probably benign Het
Lrp2 A T 2: 69,354,485 (GRCm39) F448I probably damaging Het
Marchf6 T C 15: 31,459,379 (GRCm39) K896E probably benign Het
Mroh4 T C 15: 74,485,098 (GRCm39) Y469C possibly damaging Het
Niban3 G T 8: 72,056,383 (GRCm39) R361L probably benign Het
Nr1h4 A G 10: 89,292,404 (GRCm39) I406T probably damaging Het
Odf2l T C 3: 144,854,379 (GRCm39) probably null Het
Or2y15 A T 11: 49,351,087 (GRCm39) T194S probably damaging Het
Or5d14 A G 2: 87,880,608 (GRCm39) M120T probably damaging Het
Pals2 T G 6: 50,157,257 (GRCm39) probably null Het
Pbx2 A G 17: 34,813,081 (GRCm39) Y119C possibly damaging Het
Pdcd6ip C A 9: 113,500,905 (GRCm39) A526S probably benign Het
Prx G A 7: 27,219,059 (GRCm39) D1187N possibly damaging Het
Ptpro G A 6: 137,357,198 (GRCm39) V230I probably benign Het
Rtn3 C T 19: 7,434,614 (GRCm39) M440I probably benign Het
Sar1b T C 11: 51,679,019 (GRCm39) I96T probably damaging Het
Sds T C 5: 120,618,965 (GRCm39) probably null Het
Secisbp2 A G 13: 51,833,977 (GRCm39) T706A probably benign Het
Sorcs3 A T 19: 48,682,263 (GRCm39) M433L possibly damaging Het
Sppl2a A G 2: 126,746,912 (GRCm39) V472A probably damaging Het
Tbc1d9 A G 8: 83,998,217 (GRCm39) E1258G possibly damaging Het
Tbxas1 C A 6: 38,929,008 (GRCm39) probably benign Het
Tg T C 15: 66,568,095 (GRCm39) I1333T probably damaging Het
Tmem108 C T 9: 103,376,915 (GRCm39) G178D probably damaging Het
Tmem174 A G 13: 98,773,569 (GRCm39) L87P probably damaging Het
Tmppe T A 9: 114,233,769 (GRCm39) S23T probably damaging Het
Ttn G A 2: 76,591,447 (GRCm39) T21074I probably benign Het
Tub A G 7: 108,628,505 (GRCm39) M338V probably null Het
Vmn1r160 A T 7: 22,571,531 (GRCm39) R295* probably null Het
Vps52 T C 17: 34,182,180 (GRCm39) V518A probably benign Het
Wdr59 A G 8: 112,177,675 (GRCm39) V909A probably benign Het
Wnk1 T C 6: 119,925,742 (GRCm39) T1241A probably benign Het
Zfp882 G A 8: 72,668,130 (GRCm39) C319Y probably benign Het
Znfx1 A T 2: 166,880,860 (GRCm39) I308N possibly damaging Het
Other mutations in Nos3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Nos3 APN 5 24,574,860 (GRCm39) missense probably damaging 1.00
IGL02059:Nos3 APN 5 24,573,996 (GRCm39) missense probably damaging 1.00
IGL02354:Nos3 APN 5 24,572,621 (GRCm39) missense probably damaging 1.00
IGL02361:Nos3 APN 5 24,572,621 (GRCm39) missense probably damaging 1.00
IGL02936:Nos3 APN 5 24,585,991 (GRCm39) missense probably damaging 0.97
IGL03190:Nos3 APN 5 24,588,627 (GRCm39) missense probably damaging 1.00
paul UTSW 5 24,577,702 (GRCm39) missense probably damaging 1.00
Peter UTSW 5 24,582,853 (GRCm39) missense probably damaging 0.99
R0111:Nos3 UTSW 5 24,577,702 (GRCm39) missense probably damaging 1.00
R0387:Nos3 UTSW 5 24,572,583 (GRCm39) missense probably damaging 1.00
R0755:Nos3 UTSW 5 24,572,295 (GRCm39) missense probably damaging 1.00
R1156:Nos3 UTSW 5 24,582,617 (GRCm39) missense probably benign 0.21
R1597:Nos3 UTSW 5 24,573,995 (GRCm39) missense probably damaging 1.00
R1671:Nos3 UTSW 5 24,588,838 (GRCm39) missense probably damaging 1.00
R1743:Nos3 UTSW 5 24,582,310 (GRCm39) missense probably benign 0.22
R1830:Nos3 UTSW 5 24,575,131 (GRCm39) missense probably damaging 1.00
R1882:Nos3 UTSW 5 24,573,818 (GRCm39) missense probably damaging 1.00
R2294:Nos3 UTSW 5 24,569,855 (GRCm39) missense probably damaging 0.99
R3114:Nos3 UTSW 5 24,577,629 (GRCm39) splice site probably benign
R3978:Nos3 UTSW 5 24,582,929 (GRCm39) missense probably damaging 1.00
R3980:Nos3 UTSW 5 24,582,929 (GRCm39) missense probably damaging 1.00
R4016:Nos3 UTSW 5 24,576,714 (GRCm39) missense probably damaging 1.00
R4905:Nos3 UTSW 5 24,572,329 (GRCm39) missense probably benign 0.01
R4947:Nos3 UTSW 5 24,582,853 (GRCm39) missense probably damaging 0.99
R5017:Nos3 UTSW 5 24,571,717 (GRCm39) intron probably benign
R5095:Nos3 UTSW 5 24,573,916 (GRCm39) splice site probably benign
R5096:Nos3 UTSW 5 24,576,955 (GRCm39) missense probably damaging 1.00
R5102:Nos3 UTSW 5 24,576,625 (GRCm39) missense probably damaging 1.00
R5311:Nos3 UTSW 5 24,582,343 (GRCm39) missense probably benign 0.19
R5330:Nos3 UTSW 5 24,574,902 (GRCm39) missense probably damaging 1.00
R5367:Nos3 UTSW 5 24,576,942 (GRCm39) missense probably benign 0.00
R5394:Nos3 UTSW 5 24,588,888 (GRCm39) missense probably benign 0.00
R5574:Nos3 UTSW 5 24,573,859 (GRCm39) missense possibly damaging 0.80
R5889:Nos3 UTSW 5 24,573,775 (GRCm39) intron probably benign
R6032:Nos3 UTSW 5 24,584,809 (GRCm39) missense probably benign
R6032:Nos3 UTSW 5 24,584,809 (GRCm39) missense probably benign
R6401:Nos3 UTSW 5 24,584,809 (GRCm39) missense probably benign
R6517:Nos3 UTSW 5 24,588,622 (GRCm39) missense probably damaging 1.00
R6972:Nos3 UTSW 5 24,585,241 (GRCm39) missense probably benign
R6973:Nos3 UTSW 5 24,585,241 (GRCm39) missense probably benign
R7432:Nos3 UTSW 5 24,572,613 (GRCm39) missense probably damaging 0.98
R7434:Nos3 UTSW 5 24,587,633 (GRCm39) missense probably damaging 0.99
R7507:Nos3 UTSW 5 24,577,642 (GRCm39) missense probably damaging 1.00
R7553:Nos3 UTSW 5 24,586,715 (GRCm39) missense possibly damaging 0.62
R7652:Nos3 UTSW 5 24,588,610 (GRCm39) missense probably damaging 1.00
R8094:Nos3 UTSW 5 24,572,218 (GRCm39) missense probably benign 0.13
R8686:Nos3 UTSW 5 24,573,841 (GRCm39) missense possibly damaging 0.83
R8794:Nos3 UTSW 5 24,576,745 (GRCm39) missense probably damaging 1.00
R9016:Nos3 UTSW 5 24,588,639 (GRCm39) missense probably damaging 1.00
R9192:Nos3 UTSW 5 24,582,611 (GRCm39) missense probably benign 0.04
R9336:Nos3 UTSW 5 24,584,761 (GRCm39) missense probably benign
X0020:Nos3 UTSW 5 24,575,122 (GRCm39) missense probably damaging 1.00
X0061:Nos3 UTSW 5 24,587,633 (GRCm39) missense probably damaging 0.99
Z1176:Nos3 UTSW 5 24,582,652 (GRCm39) missense probably benign 0.02
Z1177:Nos3 UTSW 5 24,588,948 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACAAGATAGTGGTTGCTCC -3'
(R):5'- TCTTGCACGTAGGTCTAGGGAC -3'

Sequencing Primer
(F):5'- GTTGCTCCAAGCCAAAAGTCTGG -3'
(R):5'- TTGCTGTGAGAACGCCCAG -3'
Posted On 2018-10-18