Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Nostrin'

219860

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

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

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69135800-69189330 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 69144767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

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

AlphaFold

Q6WKZ7

Predicted Effect

probably null
Transcript: ENSMUST00000041865

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,117,634 (GRCm38)	S675R	probably damaging	Het
Akap5	A	T	12: 76,329,348 (GRCm38)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,405,597 (GRCm38)	D102G	probably damaging	Het
Aox3	A	T	1: 58,138,232 (GRCm38)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,504,356 (GRCm38)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,272,548 (GRCm38)	P121L	probably damaging	Het
BC034090	C	T	1: 155,221,432 (GRCm38)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,625,392 (GRCm38)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,134,773 (GRCm38)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,448,284 (GRCm38)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,690,722 (GRCm38)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm38)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,349,052 (GRCm38)	D1650G	probably benign	Het
Cherp	A	C	8: 72,474,769 (GRCm38)	N14K	probably damaging	Het
Clint1	C	T	11: 45,894,092 (GRCm38)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,407,577 (GRCm38)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,371,388 (GRCm38)		noncoding transcript	Het
Dapk1	A	T	13: 60,721,857 (GRCm38)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,067,466 (GRCm38)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm38)	I296K	probably benign	Het
Elp2	A	T	18: 24,631,458 (GRCm38)	T621S	probably benign	Het
Eml6	G	T	11: 29,831,128 (GRCm38)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,367,166 (GRCm38)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537 (GRCm38)	E424G	probably damaging	Het
Gas6	C	T	8: 13,468,266 (GRCm38)	V523M	probably damaging	Het
Ggn	A	T	7: 29,173,763 (GRCm38)		probably null	Het
Gimap8	A	G	6: 48,656,353 (GRCm38)	T369A	probably damaging	Het
Grm5	T	C	7: 88,074,872 (GRCm38)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,104,924 (GRCm38)	A354V	probably damaging	Het
Habp4	G	A	13: 64,170,181 (GRCm38)		probably null	Het
Has2	A	G	15: 56,667,868 (GRCm38)	W484R	probably damaging	Het
Herc4	G	T	10: 63,244,038 (GRCm38)		probably benign	Het
Igf2	C	A	7: 142,654,399 (GRCm38)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,996,840 (GRCm38)	C428*	probably null	Het
Ipo11	A	T	13: 106,919,622 (GRCm38)	N47K	probably benign	Het
Itga4	T	G	2: 79,277,794 (GRCm38)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,440,536 (GRCm38)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm38)	T431I	probably benign	Het
Kif5a	A	T	10: 127,239,175 (GRCm38)	V523E	probably benign	Het
Klhl41	A	T	2: 69,683,496 (GRCm38)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,921,280 (GRCm38)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,143,610 (GRCm38)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,310,851 (GRCm38)	E608K	probably benign	Het
Mcf2	T	A	X: 60,077,214 (GRCm38)	R850S	probably damaging	Het
Mmp2	A	G	8: 92,850,203 (GRCm38)	N618S	probably benign	Het
Morn5	A	T	2: 36,052,938 (GRCm38)	M17L	probably benign	Het
Nme8	T	C	13: 19,696,883 (GRCm38)	N26S	probably damaging	Het
Npy4r	T	A	14: 34,147,197 (GRCm38)	I45F	possibly damaging	Het
Or13a21	T	A	7: 140,419,111 (GRCm38)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,421,919 (GRCm38)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,606,131 (GRCm38)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,133,489 (GRCm38)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,732,388 (GRCm38)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,493,998 (GRCm38)	F105L	probably benign	Het
Or5d36	A	G	2: 88,070,719 (GRCm38)	V221A	probably benign	Het
Oxt	A	G	2: 130,576,652 (GRCm38)	D61G	probably damaging	Het
Patl1	T	C	19: 11,939,817 (GRCm38)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,505,074 (GRCm38)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,061,494 (GRCm38)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,326,521 (GRCm38)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,728,036 (GRCm38)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,318,005 (GRCm38)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm38)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,964,013 (GRCm38)	V476L	probably benign	Het
Pramel28	A	T	4: 143,966,067 (GRCm38)	D121E	probably benign	Het
Prrt2	C	T	7: 127,019,409 (GRCm38)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,237,656 (GRCm38)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,027 (GRCm38)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,859,428 (GRCm38)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,897,097 (GRCm38)	N465K	probably benign	Het
Rgs12	A	G	5: 35,030,528 (GRCm38)	S510G	probably benign	Het
Satb1	G	A	17: 51,782,788 (GRCm38)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm38)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,271,844 (GRCm38)	S316G	possibly damaging	Het
Siglec1	A	T	2: 131,083,357 (GRCm38)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,503,888 (GRCm38)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,553,615 (GRCm38)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,997,707 (GRCm38)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,553,067 (GRCm38)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,778,184 (GRCm38)	F53L	probably damaging	Het
Spag9	T	A	11: 94,092,375 (GRCm38)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,702,556 (GRCm38)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,035,227 (GRCm38)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,178,494 (GRCm38)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,243,211 (GRCm38)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,473,397 (GRCm38)		probably benign	Het
Syde2	G	T	3: 145,988,408 (GRCm38)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,938,696 (GRCm38)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,363,665 (GRCm38)		probably benign	Het
Timd4	C	A	11: 46,820,030 (GRCm38)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,402,786 (GRCm38)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,769,406 (GRCm38)	Y669H	probably damaging	Het
Tmem221	T	C	8: 71,555,814 (GRCm38)	E194G	probably benign	Het
Tmem232	C	A	17: 65,500,172 (GRCm38)	V9F	probably benign	Het
Tpm1	G	A	9: 67,033,965 (GRCm38)	Q135*	probably null	Het
Trank1	A	G	9: 111,365,028 (GRCm38)	T707A	probably benign	Het
Trpm7	A	T	2: 126,823,997 (GRCm38)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,216,339 (GRCm38)	Y210*	probably null	Het
Tut7	A	G	13: 59,811,538 (GRCm38)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,025,358 (GRCm38)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,615,877 (GRCm38)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,316,578 (GRCm38)	I508V	probably benign	Het
Vps33a	G	T	5: 123,531,181 (GRCm38)		probably null	Het
Wasl	T	A	6: 24,624,361 (GRCm38)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,742,834 (GRCm38)	N426D	probably benign	Het
Zeb2	T	G	2: 44,997,950 (GRCm38)	H350P	probably damaging	Het
Zfp112	T	C	7: 24,125,300 (GRCm38)	F231S	possibly damaging	Het
Zfp180	T	C	7: 24,104,518 (GRCm38)	S121P	probably benign	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
R1501:Nostrin	UTSW	2	69,158,785 (GRCm38)	missense	probably damaging	1.00
R1632:Nostrin	UTSW	2	69,175,734 (GRCm38)	missense	probably benign	0.21
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'- TTGTATTTGACCTAGAACGGTGT -3'
(R):5'- GAGGGCAGTGCAGCTTCAAC -3'

Sequencing Primer
(F):5'- GGTCTTTCTTCACAGCAAAAGGACAG -3'
(R):5'- GGCAGTGCAGCTTCAACTCATTC -3'

Posted On

2014-08-25