Incidental Mutation 'R7802:Nostrin'
ID 600560
Institutional Source Beutler Lab
Gene Symbol Nostrin
Ensembl Gene ENSMUSG00000034738
Gene Name nitric oxide synthase trafficker
Synonyms mDaIP2
MMRRC Submission 045857-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.362) question?
Stock # R7802 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 68966144-69019674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69019356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 467 (V467A)
Ref Sequence ENSEMBL: ENSMUSP00000036923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000041865] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000167875]
AlphaFold Q6WKZ7
Predicted Effect probably benign
Transcript: ENSMUST00000005365
SMART Domains Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 148 222 6.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041865
AA Change: V467A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: V467A

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 probably benign
Transcript: ENSMUST00000112320
SMART Domains Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 150 221 1.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127243
SMART Domains Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
coiled coil region 57 113 N/A INTRINSIC
Pfam:Spindle_Spc25 133 207 4.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167875
SMART Domains Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 174 1.7e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (35/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,650,438 (GRCm39) V12A probably benign Het
Bahcc1 T C 11: 120,165,518 (GRCm39) F983S probably benign Het
Cecr2 T C 6: 120,720,808 (GRCm39) I312T probably benign Het
Col6a2 A T 10: 76,439,632 (GRCm39) W711R probably damaging Het
Epb41l4a A G 18: 33,961,227 (GRCm39) F436L probably benign Het
Epha1 C T 6: 42,338,875 (GRCm39) R641Q possibly damaging Het
Ercc6 C A 14: 32,239,260 (GRCm39) A116E probably damaging Het
Ermard A G 17: 15,281,423 (GRCm39) E611G probably benign Het
Galnt16 T G 12: 80,628,021 (GRCm39) I239S probably damaging Het
Gna15 T C 10: 81,350,175 (GRCm39) R76G probably benign Het
Herc2 A G 7: 55,813,838 (GRCm39) Y2657C probably damaging Het
Mapkapk2 T C 1: 130,984,639 (GRCm39) I238V possibly damaging Het
Med13l T C 5: 118,866,655 (GRCm39) S570P probably benign Het
Mrap C T 16: 90,546,247 (GRCm39) T112M probably benign Het
Nadsyn1 T C 7: 143,359,763 (GRCm39) Q403R probably benign Het
Palb2 A T 7: 121,710,119 (GRCm39) probably null Het
Parp16 A G 9: 65,137,179 (GRCm39) N135S probably benign Het
Pcnt A T 10: 76,211,137 (GRCm39) probably null Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Psmc5 T C 11: 106,152,538 (GRCm39) probably null Het
Rsf1 G T 7: 97,310,979 (GRCm39) V570F Het
Rundc3a A G 11: 102,290,835 (GRCm39) E306G probably benign Het
Serpinb6b C T 13: 33,155,579 (GRCm39) Het
Setx A G 2: 29,037,033 (GRCm39) T1173A probably benign Het
Slamf8 A G 1: 172,415,677 (GRCm39) S54P probably damaging Het
Slc5a2 A C 7: 127,870,970 (GRCm39) D570A possibly damaging Het
Slco5a1 T A 1: 13,060,700 (GRCm39) Q7L possibly damaging Het
Stt3b G T 9: 115,105,949 (GRCm39) S175R probably damaging Het
Taar6 T A 10: 23,861,151 (GRCm39) I132F probably benign Het
Tenm3 A G 8: 48,689,500 (GRCm39) V2029A probably damaging Het
Tgm4 A G 9: 122,880,401 (GRCm39) probably benign Het
Tmt1a A T 15: 100,203,182 (GRCm39) N152I possibly damaging Het
Togaram1 T A 12: 65,013,758 (GRCm39) C336* probably null Het
Ttn G A 2: 76,768,015 (GRCm39) T3028M unknown Het
Vmn2r25 A T 6: 123,828,791 (GRCm39) I161N possibly damaging Het
Vwf T C 6: 125,643,640 (GRCm39) C2394R Het
Other mutations in Nostrin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Nostrin APN 2 69,015,898 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACTCTTAGCACAGCGCAGTC -3'
(R):5'- TGTTTACAGAATGTGCAAAGGCC -3'

Sequencing Primer
(F):5'- CCTGCTAGCATTCTCTGTATTGTGG -3'
(R):5'- AATGTGCAAAGGCCATTCTGTG -3'
Posted On 2019-11-26