Incidental Mutation 'R5889:Nos3'
ID 456216
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 044090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5889 (G1)
Quality Score 186
Status Validated
Chromosome 5
Chromosomal Location 24569808-24589472 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 24573775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000115090]
AlphaFold P70313
Predicted Effect probably benign
Transcript: ENSMUST00000030834
SMART Domains Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978

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: ENSMUST00000115090
SMART Domains Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156403
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Cilp C A 9: 65,187,625 (GRCm39) A1240D possibly damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Fndc8 A T 11: 82,789,555 (GRCm39) T238S probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gemin5 A G 11: 58,013,181 (GRCm39) V1422A possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Scube3 A G 17: 28,379,887 (GRCm39) R272G possibly damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Stard3 G C 11: 98,266,361 (GRCm39) Q120H probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* probably null 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
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
R6888:Nos3 UTSW 5 24,588,333 (GRCm39) missense possibly damaging 0.86
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'- GCTGGTTTTCAAGTCTGCCC -3'
(R):5'- TAGAGCCGCTTTACTGTTGCC -3'

Sequencing Primer
(F):5'- TTCAAGTCTGCCCTGGGG -3'
(R):5'- CGCTTTACTGTTGCCTGGGG -3'
Posted On 2017-02-15