Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Angpt1'

655722

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42424723-42676977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42512399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 154 (N154D)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

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

AlphaFold

O08538

Predicted Effect

probably damaging
Transcript: ENSMUST00000022921
AA Change: N154D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: N154D

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	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
R5457:Angpt1	UTSW	15	42523520	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
R8046:Angpt1	UTSW	15	42496356	missense	probably benign	0.00
R8073:Angpt1	UTSW	15	42438303	missense	probably benign	0.00
R8093:Angpt1	UTSW	15	42476477	missense	probably benign	0.01
R8331:Angpt1	UTSW	15	42676257	missense	probably damaging	1.00
R8391:Angpt1	UTSW	15	42512398	missense	probably damaging	1.00
R8411:Angpt1	UTSW	15	42427034	missense	probably damaging	1.00
R8787:Angpt1	UTSW	15	42512384	missense	probably damaging	1.00
R9297:Angpt1	UTSW	15	42438355	missense	probably benign
R9318:Angpt1	UTSW	15	42438355	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATTGGCTGTACCTGCATC -3'
(R):5'- AAACTTAGTTCCCATCTGCCTG -3'

Sequencing Primer
(F):5'- AAGAAACTTTCAGTTGCCGGTG -3'
(R):5'- GCCTGTGTTTCCACTTACAAAG -3'

Posted On

2020-10-20