Mutagenetix > Incidental Mutation

Incidental Mutation 'R7802:Nostrin'

600560

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R7802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69135800-69189330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69189012 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
Abl1	T	C	2: 31,760,426	V12A	probably benign	Het
Bahcc1	T	C	11: 120,274,692	F983S	probably benign	Het
Cecr2	T	C	6: 120,743,847	I312T	probably benign	Het
Col6a2	A	T	10: 76,603,798	W711R	probably damaging	Het
Epb41l4a	A	G	18: 33,828,174	F436L	probably benign	Het
Epha1	C	T	6: 42,361,941	R641Q	possibly damaging	Het
Ercc6	C	A	14: 32,517,303	A116E	probably damaging	Het
Ermard	A	G	17: 15,061,161	E611G	probably benign	Het
Galnt16	T	G	12: 80,581,247	I239S	probably damaging	Het
Gna15	T	C	10: 81,514,341	R76G	probably benign	Het
Herc2	A	G	7: 56,164,090	Y2657C	probably damaging	Het
Mapkapk2	T	C	1: 131,056,902	I238V	possibly damaging	Het
Med13l	T	C	5: 118,728,590	S570P	probably benign	Het
Mettl7a1	A	T	15: 100,305,301	N152I	possibly damaging	Het
Mrap	C	T	16: 90,749,359	T112M	probably benign	Het
Nadsyn1	T	C	7: 143,806,026	Q403R	probably benign	Het
Palb2	A	T	7: 122,110,896		probably null	Het
Parp16	A	G	9: 65,229,897	N135S	probably benign	Het
Pcnt	A	T	10: 76,375,303		probably null	Het
Pde8b	T	C	13: 95,100,938	D116G	probably damaging	Het
Psmc5	T	C	11: 106,261,712		probably null	Het
Rsf1	G	T	7: 97,661,772	V570F		Het
Rundc3a	A	G	11: 102,400,009	E306G	probably benign	Het
Serpinb6b	C	T	13: 32,971,596			Het
Setx	A	G	2: 29,147,021	T1173A	probably benign	Het
Slamf8	A	G	1: 172,588,110	S54P	probably damaging	Het
Slc5a2	A	C	7: 128,271,798	D570A	possibly damaging	Het
Slco5a1	T	A	1: 12,990,476	Q7L	possibly damaging	Het
Stt3b	G	T	9: 115,276,881	S175R	probably damaging	Het
Taar6	T	A	10: 23,985,253	I132F	probably benign	Het
Tenm3	A	G	8: 48,236,465	V2029A	probably damaging	Het
Tgm4	A	G	9: 123,051,336		probably benign	Het
Togaram1	T	A	12: 64,966,984	C336*	probably null	Het
Ttn	G	A	2: 76,937,671	T3028M	unknown	Het
Vmn2r25	A	T	6: 123,851,832	I161N	possibly damaging	Het
Vwf	T	C	6: 125,666,677	C2394R		Het

Other mutations in Nostrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nostrin	APN	2	69185554	splice site	probably benign
IGL00502:Nostrin	APN	2	69183992	missense	probably benign
IGL00767:Nostrin	APN	2	69175775	missense	probably benign	0.00
IGL00846:Nostrin	APN	2	69185555	splice site	probably benign
IGL00912:Nostrin	APN	2	69182819	splice site	probably benign
IGL02123:Nostrin	APN	2	69156109	splice site	probably benign
IGL02213:Nostrin	APN	2	69183918	missense	probably benign	0.25
R0295:Nostrin	UTSW	2	69179416	missense	probably benign	0.19
R0543:Nostrin	UTSW	2	69189131	makesense	probably null
R1384:Nostrin	UTSW	2	69189062	missense	probably benign	0.05
R1501:Nostrin	UTSW	2	69158785	missense	probably damaging	1.00
R1632:Nostrin	UTSW	2	69175734	missense	probably benign	0.21
R2012:Nostrin	UTSW	2	69144767	splice site	probably null
R2140:Nostrin	UTSW	2	69166003	missense	probably damaging	0.98
R2159:Nostrin	UTSW	2	69180922	splice site	probably null
R2329:Nostrin	UTSW	2	69161094	missense	probably damaging	1.00
R2890:Nostrin	UTSW	2	69180905	missense	probably benign
R4469:Nostrin	UTSW	2	69175717	missense	probably damaging	0.99
R4607:Nostrin	UTSW	2	69183899	missense	possibly damaging	0.89
R4608:Nostrin	UTSW	2	69183899	missense	possibly damaging	0.89
R4684:Nostrin	UTSW	2	69183924	missense	probably benign	0.00
R4719:Nostrin	UTSW	2	69144812	nonsense	probably null
R4846:Nostrin	UTSW	2	69175579	missense	probably damaging	1.00
R4911:Nostrin	UTSW	2	69161142	missense	possibly damaging	0.87
R4987:Nostrin	UTSW	2	69156431	missense	probably benign
R5054:Nostrin	UTSW	2	69175713	missense	possibly damaging	0.82
R5177:Nostrin	UTSW	2	69175754	missense	possibly damaging	0.83
R6561:Nostrin	UTSW	2	69180857	missense	probably benign
R6785:Nostrin	UTSW	2	69183927	missense	probably benign	0.01
R6789:Nostrin	UTSW	2	69175512	missense	probably benign
R7453:Nostrin	UTSW	2	69183896	missense	possibly damaging	0.95
R7465:Nostrin	UTSW	2	69185507	missense	possibly damaging	0.93
R7570:Nostrin	UTSW	2	69175806	missense	probably damaging	0.98
R7761:Nostrin	UTSW	2	69161122	missense	possibly damaging	0.88
R8115:Nostrin	UTSW	2	69180920	critical splice donor site	probably null
R8160:Nostrin	UTSW	2	69179466	missense	probably damaging	0.98
R8844:Nostrin	UTSW	2	69175716	missense	probably damaging	0.99
R9046:Nostrin	UTSW	2	69144779	missense	probably benign
X0021:Nostrin	UTSW	2	69144792	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