Mutagenetix > Incidental Mutation

Incidental Mutation 'R9046:Nostrin'

688028

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R9046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68966144-69019674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68975123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 13 (V13L)

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041865]

AlphaFold

Q6WKZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000041865
AA Change: V13L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: V13L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,525 (GRCm39)	V1796A	probably benign	Het
Abca3	A	G	17: 24,617,477 (GRCm39)	D1058G	probably damaging	Het
Adgrg6	A	G	10: 14,323,858 (GRCm39)	V431A	probably benign	Het
Amdhd1	C	T	10: 93,363,087 (GRCm39)	D334N	probably damaging	Het
Ankrd50	A	T	3: 38,506,642 (GRCm39)	M252K	probably benign	Het
Anxa3	G	A	5: 96,976,626 (GRCm39)	R204Q	probably damaging	Het
Apmap	T	C	2: 150,426,093 (GRCm39)	T352A	probably benign	Het
Arhgef4	A	G	1: 34,850,846 (GRCm39)	E464G	possibly damaging	Het
Atp11b	T	A	3: 35,852,740 (GRCm39)		probably benign	Het
Brwd1	T	A	16: 95,829,402 (GRCm39)	S1100C	probably damaging	Het
Ccm2l	T	A	2: 152,916,720 (GRCm39)	I317N	probably damaging	Het
Ccr9	C	T	9: 123,608,831 (GRCm39)	T171I	probably benign	Het
Cdh23	A	T	10: 60,218,303 (GRCm39)		probably benign	Het
Dact1	A	G	12: 71,365,534 (GRCm39)	I735V	probably benign	Het
Dok6	C	A	18: 89,787,221 (GRCm39)	V14L	probably benign	Het
Dthd1	A	T	5: 62,984,603 (GRCm39)	Y436F	possibly damaging	Het
Fndc9	G	T	11: 46,128,889 (GRCm39)	W136L	probably damaging	Het
Gal3st1	G	A	11: 3,948,278 (GRCm39)	V162I	probably benign	Het
Gart	A	G	16: 91,418,561 (GRCm39)	S973P	probably damaging	Het
H2-T5	A	T	17: 36,476,035 (GRCm39)		probably null	Het
Hsp90ab1	G	A	17: 45,879,969 (GRCm39)	P516S	probably damaging	Het
Htr1a	G	C	13: 105,581,816 (GRCm39)	G352A	probably damaging	Het
Hycc2	T	C	1: 58,568,945 (GRCm39)	T545A	probably damaging	Het
Isg20	A	T	7: 78,569,823 (GRCm39)	R265*	probably null	Het
Kcmf1	C	T	6: 72,825,455 (GRCm39)	A213T	probably damaging	Het
Kdm3a	A	G	6: 71,572,540 (GRCm39)	V1007A	probably damaging	Het
Klhl25	A	G	7: 75,515,337 (GRCm39)	E81G	probably damaging	Het
Klhl6	C	A	16: 19,765,803 (GRCm39)	V600F	probably damaging	Het
Kmt2b	A	G	7: 30,285,479 (GRCm39)	V471A	probably benign	Het
Lap3	A	G	5: 45,652,562 (GRCm39)	T53A	probably damaging	Het
Lmntd1	A	T	6: 145,365,565 (GRCm39)	I188N	probably damaging	Het
Lrba	A	G	3: 86,302,543 (GRCm39)	I1868V	possibly damaging	Het
Mef2d	A	T	3: 88,074,825 (GRCm39)	Y337F	probably benign	Het
Mgat4e	T	C	1: 134,474,742 (GRCm39)	T7A	possibly damaging	Het
Myo3a	G	T	2: 22,448,367 (GRCm39)	L985F	probably damaging	Het
Myof	T	C	19: 37,923,112 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,376,145 (GRCm39)	G77S	probably benign	Het
Nup155	TGGG	TGG	15: 8,157,919 (GRCm39)		probably null	Het
Or14j6	A	G	17: 38,215,145 (GRCm39)	K236R	probably damaging	Het
Or3a10	T	C	11: 73,935,284 (GRCm39)	D272G	probably damaging	Het
Or4a75	C	T	2: 89,448,496 (GRCm39)		probably benign	Het
Or5b101	T	C	19: 13,005,115 (GRCm39)	N193D	probably benign	Het
Parp4	A	C	14: 56,864,927 (GRCm39)	K1025T	probably damaging	Het
Parvb	T	C	15: 84,174,639 (GRCm39)	I144T	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,160 (GRCm39)	V195A	probably damaging	Het
Prpf18	A	T	2: 4,640,464 (GRCm39)	M257K	possibly damaging	Het
Ptcd3	A	T	6: 71,870,364 (GRCm39)		probably null	Het
Ptprt	G	A	2: 161,372,361 (GRCm39)	T1437M	possibly damaging	Het
Ptx3	T	C	3: 66,132,153 (GRCm39)	F225L	probably damaging	Het
Rpl3l	A	G	17: 24,947,435 (GRCm39)	K50E	probably damaging	Het
Rubcn	T	C	16: 32,661,940 (GRCm39)	N427D	probably benign	Het
Serpinb8	G	A	1: 107,530,563 (GRCm39)	A114T	possibly damaging	Het
Sgsm1	A	G	5: 113,436,725 (GRCm39)	V35A	probably damaging	Het
Slc22a2	G	A	17: 12,834,234 (GRCm39)	A501T	probably null	Het
Slu7	G	A	11: 43,335,629 (GRCm39)	C455Y	probably damaging	Het
Src	C	A	2: 157,307,795 (GRCm39)	H235N	probably damaging	Het
Svopl	T	A	6: 37,998,531 (GRCm39)	M248L	probably benign	Het
Tbx6	G	A	7: 126,381,120 (GRCm39)		probably null	Het
Tprg1l	A	T	4: 154,242,913 (GRCm39)	I239N	probably damaging	Het
Trafd1	A	G	5: 121,513,189 (GRCm39)	F350L	probably benign	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r46	T	C	6: 89,953,585 (GRCm39)	S145P	probably damaging	Het
Vmn2r11	A	T	5: 109,202,850 (GRCm39)	F76I	probably benign	Het
Xpot	A	T	10: 121,432,149 (GRCm39)	C916*	probably null	Het
Zfp236	C	T	18: 82,637,042 (GRCm39)	E1415K	possibly damaging	Het

Other mutations in Nostrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
X0021:Nostrin	UTSW	2	68,975,136 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGTCAGAGGAGACTTAATATTTAG -3'
(R):5'- TAGAGGAGAATCATTCTTCAACCCG -3'

Sequencing Primer
(F):5'- TTACGATGGCAGTCCTCA -3'
(R):5'- AACTATTAACACTGTGTTCTGGAGGG -3'

Posted On

2021-11-19