Incidental Mutation 'IGL00465:Nostrin'
ID 332158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nostrin
Ensembl Gene ENSMUSG00000034738
Gene Name nitric oxide synthase trafficker
Synonyms mDaIP2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.362) question?
Stock # IGL00465
Quality Score
Status
Chromosome 2
Chromosomal Location 68966144-69019674 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 69015898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041865]
AlphaFold Q6WKZ7
Predicted Effect probably benign
Transcript: ENSMUST00000041865
SMART Domains Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738

DomainStartEndE-ValueType
Pfam:FCH 13 88 4.9e-12 PFAM
low complexity region 135 146 N/A INTRINSIC
coiled coil region 160 190 N/A INTRINSIC
coiled coil region 305 334 N/A INTRINSIC
low complexity region 419 439 N/A INTRINSIC
SH3 441 496 8.89e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141276
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired retinal vascular angiogenesis, endothelial cell proliferation, endothelial cell migration and induced neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Nostrin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Nostrin APN 2 69,014,336 (GRCm39) missense probably benign
IGL00767:Nostrin APN 2 69,006,119 (GRCm39) missense probably benign 0.00
IGL00846:Nostrin APN 2 69,015,899 (GRCm39) splice site probably benign
IGL00912:Nostrin APN 2 69,013,163 (GRCm39) splice site probably benign
IGL02123:Nostrin APN 2 68,986,453 (GRCm39) splice site probably benign
IGL02213:Nostrin APN 2 69,014,262 (GRCm39) missense probably benign 0.25
R0295:Nostrin UTSW 2 69,009,760 (GRCm39) missense probably benign 0.19
R0543:Nostrin UTSW 2 69,019,475 (GRCm39) makesense probably null
R1384:Nostrin UTSW 2 69,019,406 (GRCm39) missense probably benign 0.05
R1501:Nostrin UTSW 2 68,989,129 (GRCm39) missense probably damaging 1.00
R1632:Nostrin UTSW 2 69,006,078 (GRCm39) missense probably benign 0.21
R2012:Nostrin UTSW 2 68,975,111 (GRCm39) splice site probably null
R2140:Nostrin UTSW 2 68,996,347 (GRCm39) missense probably damaging 0.98
R2159:Nostrin UTSW 2 69,011,266 (GRCm39) splice site probably null
R2329:Nostrin UTSW 2 68,991,438 (GRCm39) missense probably damaging 1.00
R2890:Nostrin UTSW 2 69,011,249 (GRCm39) missense probably benign
R4469:Nostrin UTSW 2 69,006,061 (GRCm39) missense probably damaging 0.99
R4607:Nostrin UTSW 2 69,014,243 (GRCm39) missense possibly damaging 0.89
R4608:Nostrin UTSW 2 69,014,243 (GRCm39) missense possibly damaging 0.89
R4684:Nostrin UTSW 2 69,014,268 (GRCm39) missense probably benign 0.00
R4719:Nostrin UTSW 2 68,975,156 (GRCm39) nonsense probably null
R4846:Nostrin UTSW 2 69,005,923 (GRCm39) missense probably damaging 1.00
R4911:Nostrin UTSW 2 68,991,486 (GRCm39) missense possibly damaging 0.87
R4987:Nostrin UTSW 2 68,986,775 (GRCm39) missense probably benign
R5054:Nostrin UTSW 2 69,006,057 (GRCm39) missense possibly damaging 0.82
R5177:Nostrin UTSW 2 69,006,098 (GRCm39) missense possibly damaging 0.83
R6561:Nostrin UTSW 2 69,011,201 (GRCm39) missense probably benign
R6785:Nostrin UTSW 2 69,014,271 (GRCm39) missense probably benign 0.01
R6789:Nostrin UTSW 2 69,005,856 (GRCm39) missense probably benign
R7453:Nostrin UTSW 2 69,014,240 (GRCm39) missense possibly damaging 0.95
R7465:Nostrin UTSW 2 69,015,851 (GRCm39) missense possibly damaging 0.93
R7570:Nostrin UTSW 2 69,006,150 (GRCm39) missense probably damaging 0.98
R7761:Nostrin UTSW 2 68,991,466 (GRCm39) missense possibly damaging 0.88
R7802:Nostrin UTSW 2 69,019,356 (GRCm39) missense probably benign 0.18
R8115:Nostrin UTSW 2 69,011,264 (GRCm39) critical splice donor site probably null
R8160:Nostrin UTSW 2 69,009,810 (GRCm39) missense probably damaging 0.98
R8844:Nostrin UTSW 2 69,006,060 (GRCm39) missense probably damaging 0.99
R9046:Nostrin UTSW 2 68,975,123 (GRCm39) missense probably benign
X0021:Nostrin UTSW 2 68,975,136 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05