Mutagenetix > Incidental Mutation

Incidental Mutation 'R5457:Angpt1'

432845

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

Angiopoietin-1, 1110046O21Rik, Ang-1, ang1

MMRRC Submission

043020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42288119-42540373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42386916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022921]

AlphaFold

O08538

Predicted Effect

probably damaging
Transcript: ENSMUST00000022921
AA Change: T146I

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

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: T146I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	194	254	N/A	INTRINSIC
FBG	281	496	3.04e-132	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [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
Abcc12	C	A	8: 87,236,473 (GRCm39)	V1114L	probably benign	Het
Actr5	G	A	2: 158,477,918 (GRCm39)		probably null	Het
Adcy7	T	C	8: 89,037,649 (GRCm39)	L239P	probably damaging	Het
Afg3l1	T	A	8: 124,216,707 (GRCm39)	F315L	possibly damaging	Het
Agps	A	G	2: 75,684,596 (GRCm39)	Y188C	probably benign	Het
Akt1	T	C	12: 112,623,525 (GRCm39)	T312A	probably damaging	Het
Ang2	T	C	14: 51,433,292 (GRCm39)	Y30C	probably damaging	Het
Atg16l1	T	C	1: 87,702,813 (GRCm39)	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,493,558 (GRCm39)	G4R	probably damaging	Het
Best3	T	C	10: 116,840,416 (GRCm39)	F282S	probably damaging	Het
Cdkn2b	A	G	4: 89,225,391 (GRCm39)	L98P	probably damaging	Het
Cenps	A	G	4: 149,216,094 (GRCm39)		probably null	Het
Clec16a	G	T	16: 10,363,396 (GRCm39)		probably null	Het
Cxcl13	A	T	5: 96,104,830 (GRCm39)	M1L	unknown	Het
Dcun1d4	A	T	5: 73,688,908 (GRCm39)	E149D	probably damaging	Het
Dlst	G	A	12: 85,168,914 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,501,781 (GRCm39)	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,339,539 (GRCm39)	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,115 (GRCm39)	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057 (GRCm39)	G213D	probably damaging	Homo
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,328,362 (GRCm39)	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,739,726 (GRCm39)	T59A	probably damaging	Het
Fgd4	T	C	16: 16,279,873 (GRCm39)	R395G	probably benign	Het
Gm14496	A	T	2: 181,639,401 (GRCm39)	D497V	probably damaging	Het
Gpt2	A	C	8: 86,238,967 (GRCm39)	N267H	possibly damaging	Het
Grb14	A	T	2: 64,747,442 (GRCm39)	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,194,247 (GRCm39)		probably null	Het
Igkv8-16	A	G	6: 70,363,689 (GRCm39)	V111A	possibly damaging	Het
Klra2	T	A	6: 131,198,852 (GRCm39)	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,008,302 (GRCm39)	R245H	probably damaging	Het
Lamc3	A	G	2: 31,821,997 (GRCm39)	E1315G	probably benign	Het
Lpin2	A	G	17: 71,550,367 (GRCm39)	T672A	probably damaging	Het
Mcoln3	T	A	3: 145,833,877 (GRCm39)	I139N	probably benign	Het
Mcpt8	C	T	14: 56,319,793 (GRCm39)	C219Y	probably benign	Het
Mtcl3	A	C	10: 29,072,720 (GRCm39)	I671L	probably benign	Het
Mug2	G	T	6: 122,026,688 (GRCm39)	G541*	probably null	Het
Myo7b	G	T	18: 32,104,503 (GRCm39)		probably null	Het
Or10j2	C	T	1: 173,098,141 (GRCm39)	S133L	probably benign	Het
Or10j7	A	G	1: 173,011,180 (GRCm39)	S274P	probably damaging	Het
Or5ac22	T	C	16: 59,135,213 (GRCm39)	I186V	probably benign	Het
Or5k8	A	T	16: 58,644,796 (GRCm39)	I92N	probably damaging	Het
Or7e176	A	T	9: 20,171,574 (GRCm39)	Y146F	probably damaging	Het
Pclo	C	T	5: 14,726,157 (GRCm39)		probably benign	Het
Pdk2	C	T	11: 94,919,408 (GRCm39)	S289N	probably damaging	Het
Pex19	G	T	1: 171,958,245 (GRCm39)	G75W	probably damaging	Het
Psma3	T	G	12: 71,031,339 (GRCm39)	S26A	probably benign	Het
Pth1r	A	T	9: 110,555,522 (GRCm39)	I326N	possibly damaging	Het
Sbf2	T	C	7: 109,912,037 (GRCm39)	T1670A	probably benign	Het
Scn10a	A	G	9: 119,523,193 (GRCm39)	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,330,280 (GRCm39)	D578E	probably benign	Het
Spta1	C	T	1: 174,044,759 (GRCm39)	A1465V	probably damaging	Het
Taar9	A	G	10: 23,985,003 (GRCm39)	F144L	probably damaging	Het
Tal1	T	C	4: 114,925,777 (GRCm39)	V282A	probably benign	Het
Tbrg4	C	T	11: 6,570,947 (GRCm39)	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,861,005 (GRCm39)	Q215*	probably null	Het
Thsd4	A	T	9: 59,887,060 (GRCm39)	W921R	probably damaging	Het
Trrap	A	G	5: 144,786,787 (GRCm39)	E3462G	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	T	C	2: 76,541,265 (GRCm39)	E25580G	probably damaging	Het
Ttn	A	T	2: 76,776,299 (GRCm39)	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 9,781,873 (GRCm39)	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,138,169 (GRCm39)	D106G	probably benign	Het

Other mutations in Angpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Angpt1	APN	15	42,339,863 (GRCm39)	missense	possibly damaging	0.73
IGL02671:Angpt1	APN	15	42,539,790 (GRCm39)	missense	possibly damaging	0.79
IGL02876:Angpt1	APN	15	42,290,373 (GRCm39)	missense	possibly damaging	0.68
IGL03077:Angpt1	APN	15	42,339,818 (GRCm39)	nonsense	probably null
IGL03334:Angpt1	APN	15	42,359,808 (GRCm39)	missense	possibly damaging	0.94
R0226:Angpt1	UTSW	15	42,331,631 (GRCm39)	missense	probably benign	0.01
R1774:Angpt1	UTSW	15	42,387,012 (GRCm39)	missense	probably damaging	0.99
R1800:Angpt1	UTSW	15	42,375,800 (GRCm39)	missense	probably damaging	0.96
R1967:Angpt1	UTSW	15	42,301,703 (GRCm39)	missense	probably damaging	1.00
R4093:Angpt1	UTSW	15	42,386,941 (GRCm39)	missense	probably damaging	1.00
R4477:Angpt1	UTSW	15	42,331,560 (GRCm39)	missense	probably damaging	1.00
R4629:Angpt1	UTSW	15	42,301,796 (GRCm39)	missense	probably benign	0.01
R4647:Angpt1	UTSW	15	42,539,580 (GRCm39)	missense	probably benign	0.02
R4648:Angpt1	UTSW	15	42,539,580 (GRCm39)	missense	probably benign	0.02
R4750:Angpt1	UTSW	15	42,539,797 (GRCm39)	missense	probably benign	0.00
R5222:Angpt1	UTSW	15	42,539,730 (GRCm39)	missense	probably damaging	1.00
R5386:Angpt1	UTSW	15	42,301,761 (GRCm39)	missense	probably damaging	1.00
R5526:Angpt1	UTSW	15	42,375,737 (GRCm39)	missense	probably damaging	1.00
R6154:Angpt1	UTSW	15	42,387,051 (GRCm39)	missense	probably damaging	1.00
R6904:Angpt1	UTSW	15	42,323,136 (GRCm39)	missense	probably benign	0.00
R7009:Angpt1	UTSW	15	42,386,991 (GRCm39)	missense	possibly damaging	0.83
R7101:Angpt1	UTSW	15	42,386,965 (GRCm39)	missense	probably benign	0.18
R7139:Angpt1	UTSW	15	42,539,747 (GRCm39)	missense	probably damaging	1.00
R7234:Angpt1	UTSW	15	42,323,121 (GRCm39)	missense	probably benign	0.25
R7830:Angpt1	UTSW	15	42,539,664 (GRCm39)	missense	probably damaging	1.00
R8046:Angpt1	UTSW	15	42,359,752 (GRCm39)	missense	probably benign	0.00
R8073:Angpt1	UTSW	15	42,301,699 (GRCm39)	missense	probably benign	0.00
R8093:Angpt1	UTSW	15	42,339,873 (GRCm39)	missense	probably benign	0.01
R8331:Angpt1	UTSW	15	42,539,653 (GRCm39)	missense	probably damaging	1.00
R8391:Angpt1	UTSW	15	42,375,794 (GRCm39)	missense	probably damaging	1.00
R8411:Angpt1	UTSW	15	42,290,430 (GRCm39)	missense	probably damaging	1.00
R8508:Angpt1	UTSW	15	42,375,795 (GRCm39)	missense	probably damaging	1.00
R8787:Angpt1	UTSW	15	42,375,780 (GRCm39)	missense	probably damaging	1.00
R9297:Angpt1	UTSW	15	42,301,751 (GRCm39)	missense	probably benign
R9318:Angpt1	UTSW	15	42,301,751 (GRCm39)	missense	probably benign
R9746:Angpt1	UTSW	15	42,539,837 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCACTCATAGCTTGTCAAG -3'
(R):5'- CCTTGTAAACACTGCATGCCC -3'

Sequencing Primer
(F):5'- GTCAAGCACTCATTGTTGTTGTTAC -3'
(R):5'- CAACAGGGGAGGCTTTACTTATAATC -3'

Posted On

2016-10-06