Incidental Mutation 'R3980:Nos3'
ID 311239
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 040843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3980 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24569808-24589472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24582929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 685 (D685E)
Ref Sequence ENSEMBL: ENSMUSP00000030834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000115090]
AlphaFold P70313
Predicted Effect probably damaging
Transcript: ENSMUST00000030834
AA Change: D685E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: D685E

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: D685E

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: D685E

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,454,792 (GRCm39) G268R probably damaging Het
Amacr T A 15: 10,989,015 (GRCm39) Y240* probably null Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Arhgef25 C A 10: 127,023,089 (GRCm39) C106F probably damaging Het
Bean1 A T 8: 104,937,730 (GRCm39) Q103L possibly damaging Het
Ccr9 A T 9: 123,608,441 (GRCm39) N41I probably benign Het
Ceacam16 A G 7: 19,592,558 (GRCm39) F117L probably benign Het
Col4a1 T C 8: 11,289,155 (GRCm39) probably benign Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Csmd1 T A 8: 15,956,056 (GRCm39) K3384* probably null Het
Ctnnd2 T A 15: 30,669,589 (GRCm39) H399Q probably benign Het
Cutal T C 2: 34,772,325 (GRCm39) Y30H possibly damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Defb30 C A 14: 63,273,421 (GRCm39) C64F probably damaging Het
Eif2a T C 3: 58,446,960 (GRCm39) I45T probably benign Het
Esyt1 T A 10: 128,347,393 (GRCm39) D1044V probably damaging Het
Gabpb2 A T 3: 95,096,081 (GRCm39) V382E probably damaging Het
Glb1 T A 9: 114,246,132 (GRCm39) I61K probably damaging Het
Insyn2b G A 11: 34,352,678 (GRCm39) C240Y probably benign Het
Kcnt1 T C 2: 25,783,226 (GRCm39) V263A possibly damaging Het
Kdm5b A G 1: 134,547,408 (GRCm39) D1019G probably benign Het
Klhl2 A T 8: 65,196,109 (GRCm39) L545M probably damaging Het
Klhl2 C A 8: 65,196,115 (GRCm39) G543C probably damaging Het
Krt31 G T 11: 99,939,030 (GRCm39) Q264K probably damaging Het
Lmnb1 A G 18: 56,864,091 (GRCm39) D232G probably damaging Het
Loxhd1 T C 18: 77,501,855 (GRCm39) F859L probably damaging Het
Map7 C A 10: 20,143,099 (GRCm39) T416K unknown Het
Med18 T A 4: 132,190,251 (GRCm39) I45F probably benign Het
Mn1 A T 5: 111,569,636 (GRCm39) H1202L possibly damaging Het
Mpp7 T C 18: 7,444,062 (GRCm39) D120G probably benign Het
Nlrp1b A T 11: 71,072,437 (GRCm39) F469I possibly damaging Het
Nrap G A 19: 56,369,984 (GRCm39) A206V probably benign Het
Nuggc T C 14: 65,856,542 (GRCm39) probably null Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or10ak12 T A 4: 118,666,500 (GRCm39) Y187F probably benign Het
Or51a25 T C 7: 102,372,959 (GRCm39) N246S probably damaging Het
Parp3 T C 9: 106,351,267 (GRCm39) D278G probably damaging Het
Phc3 T A 3: 30,991,080 (GRCm39) Q346L probably damaging Het
Pigo A G 4: 43,019,231 (GRCm39) L1029P probably damaging Het
Plcb3 A G 19: 6,943,803 (GRCm39) I66T probably damaging Het
Plch2 T C 4: 155,069,255 (GRCm39) S1019G probably benign Het
Plekhg6 C A 6: 125,350,146 (GRCm39) C264F probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pou4f2 G T 8: 79,162,067 (GRCm39) H179N possibly damaging Het
Prpf39 T C 12: 65,108,231 (GRCm39) probably benign Het
Rapgef1 G A 2: 29,609,662 (GRCm39) V700I probably benign Het
Rdh14 A G 12: 10,444,703 (GRCm39) I185V probably benign Het
Rnf111 A T 9: 70,349,607 (GRCm39) H785Q probably damaging Het
Rttn C T 18: 89,035,399 (GRCm39) R758W probably benign Het
Sik3 G A 9: 46,113,361 (GRCm39) V601M probably damaging Het
Slc22a14 T C 9: 119,007,552 (GRCm39) T286A probably benign Het
Slc36a3 G A 11: 55,026,209 (GRCm39) T203I probably benign Het
Spata31 A T 13: 65,070,468 (GRCm39) Q872L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Sphkap A T 1: 83,245,215 (GRCm39) probably null Het
Stat6 T C 10: 127,491,248 (GRCm39) V463A probably damaging Het
Stx7 T C 10: 24,060,947 (GRCm39) S225P probably damaging Het
Sult2a7 A T 7: 14,207,334 (GRCm39) probably benign Het
Tada2a A T 11: 83,993,946 (GRCm39) F179L probably benign Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tfap2d A G 1: 19,236,187 (GRCm39) I382V possibly damaging Het
Tshr C A 12: 91,504,517 (GRCm39) A485D probably damaging Het
Vmn1r32 T A 6: 66,530,698 (GRCm39) Y26F probably damaging Het
Vmn1r5 A G 6: 56,962,636 (GRCm39) T104A probably damaging Het
Wbp1l T A 19: 46,642,396 (GRCm39) 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
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
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'- ACCTGGGTAAACTTGGGCTG -3'
(R):5'- GGCTGATTCTGGAAGAGTAGC -3'

Sequencing Primer
(F):5'- AAACTTGGGCTGGCATGG -3'
(R):5'- ATTAGGAAGTGAGTCTCCAGCCTC -3'
Posted On 2015-04-29