Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Nostrin'

169237

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69135800-69189330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69158785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

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

AlphaFold

Q6WKZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041865
AA Change: E120G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: E120G

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,513,347 (GRCm38)	S533R	probably benign	Het
Amph	C	T	13: 19,104,291 (GRCm38)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm38)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,981,180 (GRCm38)	C845R	probably damaging	Het
Calml4	A	G	9: 62,871,340 (GRCm38)	K12E	probably benign	Het
Chrd	C	T	16: 20,737,533 (GRCm38)	R615W	probably damaging	Het
Chst15	T	A	7: 132,269,069 (GRCm38)	K246*	probably null	Het
Cmtr2	G	A	8: 110,221,603 (GRCm38)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,454,324 (GRCm38)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,911,630 (GRCm38)		probably null	Het
Dcaf17	A	T	2: 71,081,988 (GRCm38)	I320F	probably damaging	Het
Ddx10	T	C	9: 53,233,997 (GRCm38)	I227V	possibly damaging	Het
Dlc1	G	T	8: 36,938,148 (GRCm38)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,668,463 (GRCm38)	R455H	probably benign	Het
Drg2	G	T	11: 60,464,853 (GRCm38)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,332,019 (GRCm38)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,716,424 (GRCm38)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,310,761 (GRCm38)	S34G	probably benign	Het
Enpp2	C	A	15: 54,839,514 (GRCm38)	W862L	probably damaging	Het
Exoc2	T	C	13: 30,935,502 (GRCm38)	I139V	probably benign	Het
Fhad1	C	T	4: 141,964,625 (GRCm38)	R400H	probably benign	Het
Fv1	C	T	4: 147,870,138 (GRCm38)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,643,701 (GRCm38)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,950,433 (GRCm38)		probably benign	Het
Gm4799	G	A	10: 82,954,635 (GRCm38)		noncoding transcript	Het
Hadha	A	G	5: 30,128,806 (GRCm38)	F405S	probably benign	Het
Ifit3	T	C	19: 34,588,251 (GRCm38)	V399A	probably benign	Het
Il1rapl1	G	T	X: 87,304,863 (GRCm38)	Y150*	probably null	Het
Kirrel	T	C	3: 87,090,472 (GRCm38)	E248G	probably benign	Het
Krt72	C	A	15: 101,778,334 (GRCm38)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,356,832 (GRCm38)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,249,380 (GRCm38)	I174S	probably benign	Het
Me3	A	G	7: 89,633,065 (GRCm38)	D52G	probably benign	Het
Med12l	T	C	3: 59,260,835 (GRCm38)		probably null	Het
Mgat5	G	A	1: 127,397,641 (GRCm38)		probably null	Het
Mgea5	T	C	19: 45,778,640 (GRCm38)	D99G	probably null	Het
Mphosph10	A	T	7: 64,389,504 (GRCm38)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,604,197 (GRCm38)	S13P	probably benign	Het
Nexn	T	C	3: 152,237,686 (GRCm38)	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,156,059 (GRCm38)	H1156Y	probably damaging	Het
Nsun2	A	G	13: 69,631,587 (GRCm38)	E624G	probably damaging	Het
Olfr1189	G	A	2: 88,592,148 (GRCm38)	V115I	possibly damaging	Het
Olfr495	A	C	7: 108,396,082 (GRCm38)	K321Q	probably benign	Het
Olfr503	G	A	7: 108,544,575 (GRCm38)	V15I	probably benign	Het
Olfr730	A	G	14: 50,187,082 (GRCm38)	I45T	probably damaging	Het
Phldb2	T	C	16: 45,777,783 (GRCm38)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,844,070 (GRCm38)		probably null	Het
Pikfyve	T	A	1: 65,265,284 (GRCm38)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,975,521 (GRCm38)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,957,361 (GRCm38)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,387,062 (GRCm38)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,357 (GRCm38)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,516,364 (GRCm38)	I406T	probably benign	Het
Ptpn5	G	T	7: 47,089,875 (GRCm38)	D185E	probably benign	Het
Rad50	G	T	11: 53,688,151 (GRCm38)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,700,163 (GRCm38)	F613L	probably benign	Het
Sec16a	T	A	2: 26,440,045 (GRCm38)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,555,576 (GRCm38)		probably null	Het
Slc22a3	G	A	17: 12,507,104 (GRCm38)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,955,122 (GRCm38)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,638,562 (GRCm38)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 123,260,508 (GRCm38)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,684,048 (GRCm38)	A470S	probably benign	Het
Slfn8	A	G	11: 83,003,180 (GRCm38)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,365,094 (GRCm38)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,292,699 (GRCm38)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,834,796 (GRCm38)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,343,316 (GRCm38)	Y485H	probably damaging	Het
Trim12c	T	A	7: 104,340,888 (GRCm38)		probably benign	Het
Trpc6	A	G	9: 8,610,169 (GRCm38)	T213A	probably damaging	Het
Upp1	T	A	11: 9,134,708 (GRCm38)		probably null	Het
Vmn1r46	A	T	6: 89,976,216 (GRCm38)	I16L	probably benign	Het
Vmn2r75	A	T	7: 86,165,642 (GRCm38)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,439,856 (GRCm38)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,362,259 (GRCm38)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm38)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 76,039,769 (GRCm38)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,235,799 (GRCm38)	D38G	probably damaging	Het

Other mutations in Nostrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nostrin	APN	2	69,185,554 (GRCm38)	splice site	probably benign
IGL00502:Nostrin	APN	2	69,183,992 (GRCm38)	missense	probably benign
IGL00767:Nostrin	APN	2	69,175,775 (GRCm38)	missense	probably benign	0.00
IGL00846:Nostrin	APN	2	69,185,555 (GRCm38)	splice site	probably benign
IGL00912:Nostrin	APN	2	69,182,819 (GRCm38)	splice site	probably benign
IGL02123:Nostrin	APN	2	69,156,109 (GRCm38)	splice site	probably benign
IGL02213:Nostrin	APN	2	69,183,918 (GRCm38)	missense	probably benign	0.25
R0295:Nostrin	UTSW	2	69,179,416 (GRCm38)	missense	probably benign	0.19
R0543:Nostrin	UTSW	2	69,189,131 (GRCm38)	makesense	probably null
R1384:Nostrin	UTSW	2	69,189,062 (GRCm38)	missense	probably benign	0.05
R1632:Nostrin	UTSW	2	69,175,734 (GRCm38)	missense	probably benign	0.21
R2012:Nostrin	UTSW	2	69,144,767 (GRCm38)	splice site	probably null
R2140:Nostrin	UTSW	2	69,166,003 (GRCm38)	missense	probably damaging	0.98
R2159:Nostrin	UTSW	2	69,180,922 (GRCm38)	splice site	probably null
R2329:Nostrin	UTSW	2	69,161,094 (GRCm38)	missense	probably damaging	1.00
R2890:Nostrin	UTSW	2	69,180,905 (GRCm38)	missense	probably benign
R4469:Nostrin	UTSW	2	69,175,717 (GRCm38)	missense	probably damaging	0.99
R4607:Nostrin	UTSW	2	69,183,899 (GRCm38)	missense	possibly damaging	0.89
R4608:Nostrin	UTSW	2	69,183,899 (GRCm38)	missense	possibly damaging	0.89
R4684:Nostrin	UTSW	2	69,183,924 (GRCm38)	missense	probably benign	0.00
R4719:Nostrin	UTSW	2	69,144,812 (GRCm38)	nonsense	probably null
R4846:Nostrin	UTSW	2	69,175,579 (GRCm38)	missense	probably damaging	1.00
R4911:Nostrin	UTSW	2	69,161,142 (GRCm38)	missense	possibly damaging	0.87
R4987:Nostrin	UTSW	2	69,156,431 (GRCm38)	missense	probably benign
R5054:Nostrin	UTSW	2	69,175,713 (GRCm38)	missense	possibly damaging	0.82
R5177:Nostrin	UTSW	2	69,175,754 (GRCm38)	missense	possibly damaging	0.83
R6561:Nostrin	UTSW	2	69,180,857 (GRCm38)	missense	probably benign
R6785:Nostrin	UTSW	2	69,183,927 (GRCm38)	missense	probably benign	0.01
R6789:Nostrin	UTSW	2	69,175,512 (GRCm38)	missense	probably benign
R7453:Nostrin	UTSW	2	69,183,896 (GRCm38)	missense	possibly damaging	0.95
R7465:Nostrin	UTSW	2	69,185,507 (GRCm38)	missense	possibly damaging	0.93
R7570:Nostrin	UTSW	2	69,175,806 (GRCm38)	missense	probably damaging	0.98
R7761:Nostrin	UTSW	2	69,161,122 (GRCm38)	missense	possibly damaging	0.88
R7802:Nostrin	UTSW	2	69,189,012 (GRCm38)	missense	probably benign	0.18
R8115:Nostrin	UTSW	2	69,180,920 (GRCm38)	critical splice donor site	probably null
R8160:Nostrin	UTSW	2	69,179,466 (GRCm38)	missense	probably damaging	0.98
R8844:Nostrin	UTSW	2	69,175,716 (GRCm38)	missense	probably damaging	0.99
R9046:Nostrin	UTSW	2	69,144,779 (GRCm38)	missense	probably benign
X0021:Nostrin	UTSW	2	69,144,792 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCAAAATGAATGTCCTACCTAGAGC -3'
(R):5'- CAGTGCAAAGTCACATATCACCTCAGT -3'

Sequencing Primer
(F):5'- ccacatcacctaatcctcctc -3'
(R):5'- GAGTACACACACATATAGCTCTTGG -3'

Posted On

2014-04-13