Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Nostrin'

390686

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68966144-69019674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69006057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 247 (Q247L)

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

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

AlphaFold

Q6WKZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041865
AA Change: Q247L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: Q247L

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

noncoding transcript
Transcript: ENSMUST00000141276

Meta Mutation Damage Score

0.0931

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably 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
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
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'- ATCTCACCGTGGAGTGTGTG -3'
(R):5'- ATACGTGGCCAAGATGAGCTG -3'

Sequencing Primer
(F):5'- TTCAGAGCATGCTGGAGC -3'
(R):5'- CCAAGATGAGCTGGTAAAGGCAC -3'

Posted On

2016-06-06