Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42424723-42676977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42523520 bp

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]

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: 86,509,844	V1114L	probably benign	Het
Actr5	G	A	2: 158,635,998		probably null	Het
Adcy7	T	C	8: 88,311,021	L239P	probably damaging	Het
Afg3l1	T	A	8: 123,489,968	F315L	possibly damaging	Het
Agps	A	G	2: 75,854,252	Y188C	probably benign	Het
Akt1	T	C	12: 112,657,091	T312A	probably damaging	Het
Ang2	T	C	14: 51,195,835	Y30C	probably damaging	Het
Atg16l1	T	C	1: 87,775,091	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,602,732	G4R	probably damaging	Het
Best3	T	C	10: 117,004,511	F282S	probably damaging	Het
Cdkn2b	A	G	4: 89,307,154	L98P	probably damaging	Het
Cenps	A	G	4: 149,131,637		probably null	Het
Clec16a	G	T	16: 10,545,532		probably null	Het
Cxcl13	A	T	5: 95,956,971	M1L	unknown	Het
Dcun1d4	A	T	5: 73,531,565	E149D	probably damaging	Het
Dlst	G	A	12: 85,122,140		probably null	Het
Dock10	C	A	1: 80,524,064	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,411,810	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,029	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057	G213D	probably damaging	Homo
Eps8	A	T	6: 137,512,177	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,437,536	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,789,767	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,912,157	T59A	probably damaging	Het
Fgd4	T	C	16: 16,462,009	R395G	probably benign	Het
Gm14496	A	T	2: 181,997,608	D497V	probably damaging	Het
Gpt2	A	C	8: 85,512,338	N267H	possibly damaging	Het
Grb14	A	T	2: 64,917,098	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,266,525		probably null	Het
Igkv8-16	A	G	6: 70,386,705	V111A	possibly damaging	Het
Klra2	T	A	6: 131,221,889	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,325,994	R245H	probably damaging	Het
Lamc3	A	G	2: 31,931,985	E1315G	probably benign	Het
Lpin2	A	G	17: 71,243,372	T672A	probably damaging	Het
Mcoln3	T	A	3: 146,128,122	I139N	probably benign	Het
Mcpt8	C	T	14: 56,082,336	C219Y	probably benign	Het
Mug2	G	T	6: 122,049,729	G541*	probably null	Het
Myo7b	G	T	18: 31,971,450		probably null	Het
Olfr1406	A	G	1: 173,183,613	S274P	probably damaging	Het
Olfr175-ps1	A	T	16: 58,824,433	I92N	probably damaging	Het
Olfr204	T	C	16: 59,314,850	I186V	probably benign	Het
Olfr418	C	T	1: 173,270,574	S133L	probably benign	Het
Olfr872	A	T	9: 20,260,278	Y146F	probably damaging	Het
Pclo	C	T	5: 14,676,143		probably benign	Het
Pdk2	C	T	11: 95,028,582	S289N	probably damaging	Het
Pex19	G	T	1: 172,130,678	G75W	probably damaging	Het
Psma3	T	G	12: 70,984,565	S26A	probably benign	Het
Pth1r	A	T	9: 110,726,454	I326N	possibly damaging	Het
Sbf2	T	C	7: 110,312,830	T1670A	probably benign	Het
Scn10a	A	G	9: 119,694,127	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,440,268	D578E	probably benign	Het
Soga3	A	C	10: 29,196,724	I671L	probably benign	Het
Spta1	C	T	1: 174,217,193	A1465V	probably damaging	Het
Taar9	A	G	10: 24,109,105	F144L	probably damaging	Het
Tal1	T	C	4: 115,068,580	V282A	probably benign	Het
Tbrg4	C	T	11: 6,620,947	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,894,746	Q215*	probably null	Het
Thsd4	A	T	9: 59,979,777	W921R	probably damaging	Het
Trrap	A	G	5: 144,849,977	E3462G	probably damaging	Het
Try4	T	C	6: 41,303,421	S60P	probably damaging	Het
Ttn	T	C	2: 76,710,921	E25580G	probably damaging	Het
Ttn	A	T	2: 76,945,955	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 10,047,946	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,201,359	D106G	probably benign	Het

Other mutations in Angpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Angpt1	APN	15	42476467	missense	possibly damaging	0.73
IGL02671:Angpt1	APN	15	42676394	missense	possibly damaging	0.79
IGL02876:Angpt1	APN	15	42426977	missense	possibly damaging	0.68
IGL03077:Angpt1	APN	15	42476422	nonsense	probably null
IGL03334:Angpt1	APN	15	42496412	missense	possibly damaging	0.94
R0226:Angpt1	UTSW	15	42468235	missense	probably benign	0.01
R1774:Angpt1	UTSW	15	42523616	missense	probably damaging	0.99
R1800:Angpt1	UTSW	15	42512404	missense	probably damaging	0.96
R1967:Angpt1	UTSW	15	42438307	missense	probably damaging	1.00
R4093:Angpt1	UTSW	15	42523545	missense	probably damaging	1.00
R4477:Angpt1	UTSW	15	42468164	missense	probably damaging	1.00
R4629:Angpt1	UTSW	15	42438400	missense	probably benign	0.01
R4647:Angpt1	UTSW	15	42676184	missense	probably benign	0.02
R4648:Angpt1	UTSW	15	42676184	missense	probably benign	0.02
R4750:Angpt1	UTSW	15	42676401	missense	probably benign	0.00
R5222:Angpt1	UTSW	15	42676334	missense	probably damaging	1.00
R5386:Angpt1	UTSW	15	42438365	missense	probably damaging	1.00
R5526:Angpt1	UTSW	15	42512341	missense	probably damaging	1.00
R6154:Angpt1	UTSW	15	42523655	missense	probably damaging	1.00
R6904:Angpt1	UTSW	15	42459740	missense	probably benign	0.00
R7009:Angpt1	UTSW	15	42523595	missense	possibly damaging	0.83
R7101:Angpt1	UTSW	15	42523569	missense	probably benign	0.18
R7139:Angpt1	UTSW	15	42676351	missense	probably damaging	1.00
R7234:Angpt1	UTSW	15	42459725	missense	probably benign	0.25
R7830:Angpt1	UTSW	15	42676268	missense	probably damaging	1.00

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