Incidental Mutation 'R5574:Nos3'
ID 437099
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 043129-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5574 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24569808-24589472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24573859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 208 (T208A)
Ref Sequence ENSEMBL: ENSMUSP00000110742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000115090]
AlphaFold P70313
Predicted Effect probably benign
Transcript: ENSMUST00000030834
AA Change: T208A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: T208A

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 possibly damaging
Transcript: ENSMUST00000115090
AA Change: T208A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: T208A

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 0.0717 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,380,205 (GRCm39) N31I possibly damaging Het
Acvr1b T A 15: 101,099,958 (GRCm39) M304K probably benign Het
Adamts1 G T 16: 85,596,530 (GRCm39) D106E probably damaging Het
Atosa A T 9: 74,917,672 (GRCm39) D757V probably damaging Het
Blm C A 7: 80,149,521 (GRCm39) C696F probably damaging Het
Bnip3l-ps T A 12: 18,267,119 (GRCm39) noncoding transcript Het
Ccdc171 A T 4: 83,611,990 (GRCm39) N895I probably damaging Het
Cdhr4 A T 9: 107,870,527 (GRCm39) probably benign Het
Cfap97 T C 8: 46,623,179 (GRCm39) S190P probably damaging Het
Chrnb1 A C 11: 69,684,509 (GRCm39) probably benign Het
Clns1a A G 7: 97,370,165 (GRCm39) probably benign Het
Col8a2 G A 4: 126,205,061 (GRCm39) probably benign Het
Cr2 T A 1: 194,823,544 (GRCm39) E721V probably damaging Het
Csk A G 9: 57,536,584 (GRCm39) V172A probably benign Het
Cyp2g1 G A 7: 26,520,165 (GRCm39) V466M possibly damaging Het
Cyp4f13 A G 17: 33,148,179 (GRCm39) Y349H probably benign Het
Dnm1l T C 16: 16,147,685 (GRCm39) Y205C probably damaging Het
Dync1i2 A T 2: 71,063,994 (GRCm39) T113S probably benign Het
Edem2 T C 2: 155,558,075 (GRCm39) E186G probably damaging Het
Eya2 G A 2: 165,605,736 (GRCm39) R380H probably damaging Het
Gldn A G 9: 54,220,206 (GRCm39) T132A probably damaging Het
Gm13941 A T 2: 110,930,951 (GRCm39) I74K unknown Het
Gm3898 C T 9: 43,741,339 (GRCm39) noncoding transcript Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Klhdc10 C T 6: 30,439,864 (GRCm39) L127F possibly damaging Het
Letm1 G A 5: 33,926,730 (GRCm39) T189M possibly damaging Het
Lrrc17 A T 5: 21,775,355 (GRCm39) I306F possibly damaging Het
Lrrk2 T A 15: 91,671,219 (GRCm39) V2000E probably damaging Het
Mettl9 A T 7: 120,647,093 (GRCm39) E66D probably benign Het
Mroh1 T A 15: 76,318,131 (GRCm39) V877D probably benign Het
Mycbp2 C T 14: 103,380,203 (GRCm39) V3760M possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Obp2a A T 2: 25,590,842 (GRCm39) T70S possibly damaging Het
Or4a72 C T 2: 89,405,321 (GRCm39) V250I possibly damaging Het
Or52a5b T G 7: 103,417,323 (GRCm39) I94L possibly damaging Het
Or5al6 T C 2: 85,976,535 (GRCm39) D181G probably damaging Het
Or8b8 A T 9: 37,808,877 (GRCm39) Y59F probably damaging Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pate2 A G 9: 35,597,411 (GRCm39) probably benign Het
Pdzph1 A G 17: 59,280,942 (GRCm39) F447L probably benign Het
Pias1 A G 9: 62,827,775 (GRCm39) C211R probably damaging Het
Plb1 A G 5: 32,487,291 (GRCm39) S929G probably benign Het
Pramel32 T G 4: 88,546,280 (GRCm39) E354A probably benign Het
Prc1 G A 7: 79,944,290 (GRCm39) probably benign Het
Prex2 A G 1: 11,210,282 (GRCm39) D574G probably damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rmc1 CTGTGTGTT CTGTGTGTTGTGTGTT 18: 12,318,063 (GRCm39) probably null Het
Rock2 T C 12: 17,011,642 (GRCm39) M690T possibly damaging Het
Sinhcaf C T 6: 148,846,378 (GRCm39) probably benign Het
Slc18a2 A G 19: 59,249,837 (GRCm39) I25V probably benign Het
Slc9a5 T A 8: 106,091,323 (GRCm39) I701K probably benign Het
Sorcs1 T A 19: 50,210,571 (GRCm39) N765Y probably damaging Het
Ssh2 A T 11: 77,340,941 (GRCm39) I698L probably benign Het
Stam A G 2: 14,120,675 (GRCm39) D58G probably damaging Het
Thsd4 C A 9: 59,879,683 (GRCm39) R1018L probably damaging Het
Tnxb A G 17: 34,929,998 (GRCm39) T2911A probably benign Het
Trpm7 A C 2: 126,654,950 (GRCm39) F1329L probably benign Het
Ttll9 A G 2: 152,826,168 (GRCm39) E126G possibly damaging Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Unc45a G A 7: 79,984,604 (GRCm39) A232V probably damaging Het
Utp14b G A 1: 78,644,126 (GRCm39) V675M probably damaging Het
Vmn2r67 T A 7: 84,801,099 (GRCm39) H279L probably benign Het
Vmn2r75 G T 7: 85,815,510 (GRCm39) A118E probably benign Het
Wdr36 A T 18: 32,999,012 (GRCm39) Q886L probably damaging Het
Zfp433 T A 10: 81,555,125 (GRCm39) Y27* probably null Het
Zfp715 A T 7: 42,960,463 (GRCm39) S43T possibly damaging Het
Zfyve26 A G 12: 79,286,698 (GRCm39) S2297P 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
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
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'- GTCACATGGACAGTGGGTAG -3'
(R):5'- AGCCATCCTGCTGCCTATAG -3'

Sequencing Primer
(F):5'- ATGGACAGTGGGTAGCTCCTC -3'
(R):5'- CTGTTCCAGATCCGGAAGTC -3'
Posted On 2016-10-26