Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Nostrin'

37659

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

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

Stock #

R0295 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

68966144-69019674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69009760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 296 (E296A)

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

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

AlphaFold

Q6WKZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000041865
AA Change: E296A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: E296A

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

0.1006

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	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
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
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'- AGGAGCAGTGACTCTCATTTCTCCC -3'
(R):5'- CATGTGAGGCCAGCCTGATCTG -3'

Sequencing Primer
(F):5'- caaggtggggaggaaagg -3'
(R):5'- AGCCTGATCTGCTCACACTG -3'

Posted On

2013-05-23