Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Nostrin'

50027

Institutional Source

Beutler Lab

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

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

Stock #

R0543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68966144-69019674 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to G at 69019475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamic Acid at position 507 (*507E)

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000041865] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000167875]

AlphaFold

Q6WKZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000005365

SMART Domains

Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
Pfam:Spindle_Spc25	148	222	6.3e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000041865
AA Change: *507E

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: *507E

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

probably benign
Transcript: ENSMUST00000112320

SMART Domains

Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
Pfam:Spindle_Spc25	150	221	1.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127243

SMART Domains

Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	30	44	N/A	INTRINSIC
coiled coil region	57	113	N/A	INTRINSIC
Pfam:Spindle_Spc25	133	207	4.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141276

Predicted Effect

probably benign
Transcript: ENSMUST00000167875

SMART Domains

Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
Pfam:Spindle_Spc25	100	174	1.7e-27	PFAM

Meta Mutation Damage Score

0.8522

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	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
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'- GGCTGTTTGCTTCACCTGAATCAAG -3'
(R):5'- TCCAGTTGCCACCCAAAGCTAGAG -3'

Sequencing Primer
(F):5'- GATGTTACCAAGTAGTTCCCCAG -3'
(R):5'- TTGTCACGGGTAGACAATCTC -3'

Posted On

2013-06-12