Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Angpt1'

652703

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

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

MMRRC Submission

067881-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42288119-42540373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42290430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 478 (Y478C)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

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

AlphaFold

O08538

Predicted Effect

probably damaging
Transcript: ENSMUST00000022921
AA Change: Y478C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: Y478C

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: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,285,588 (GRCm39)	S89P	probably benign	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Adam18	A	T	8: 25,142,143 (GRCm39)	I211N	probably damaging	Het
Apba2	A	T	7: 64,386,674 (GRCm39)	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,286,759 (GRCm39)	K50N	probably benign	Het
Arfgef2	A	T	2: 166,715,903 (GRCm39)	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,597,208 (GRCm39)	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,720,032 (GRCm39)	V621A	probably benign	Het
Catsperz	A	T	19: 6,899,930 (GRCm39)	L192M	probably benign	Het
Cd5	G	A	19: 10,697,585 (GRCm39)	P465S	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfap61	A	G	2: 145,789,103 (GRCm39)	E94G	probably benign	Het
Chd1	A	G	17: 15,982,711 (GRCm39)	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,688,888 (GRCm39)	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,179 (GRCm39)	R292C	probably benign	Het
Dcaf6	T	A	1: 165,216,244 (GRCm39)	H453L	probably benign	Het
Dnah3	C	A	7: 119,610,253 (GRCm39)	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,028,693 (GRCm39)	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,283,053 (GRCm39)	Y74F	probably benign	Het
Gm5464	T	C	14: 67,106,555 (GRCm39)	L64P	unknown	Het
Gm5624	T	G	14: 44,799,347 (GRCm39)	N70T		Het
Kcnh7	T	A	2: 62,594,952 (GRCm39)	H706L	probably damaging	Het
Kdm2b	C	T	5: 123,018,239 (GRCm39)	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,996,864 (GRCm39)	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,027,605 (GRCm39)	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,833,187 (GRCm39)	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Mmp24	G	T	2: 155,655,935 (GRCm39)	V458L	probably benign	Het
Mpl	C	A	4: 118,303,306 (GRCm39)	S502I		Het
Nfatc1	A	T	18: 80,710,257 (GRCm39)	V503D	probably damaging	Het
Nim1k	A	G	13: 120,175,807 (GRCm39)	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031 (GRCm38)	Y327C	probably damaging	Het
Oma1	C	T	4: 103,186,113 (GRCm39)	R360*	probably null	Het
Oog2	T	A	4: 143,920,743 (GRCm39)	W59R	probably damaging	Het
Or4c109	T	C	2: 88,818,409 (GRCm39)	T46A	probably benign	Het
Pcdh10	A	G	3: 45,333,974 (GRCm39)	E96G	probably damaging	Het
Pcna	T	A	2: 132,093,850 (GRCm39)	T98S	probably benign	Het
Pcnx3	C	T	19: 5,729,618 (GRCm39)	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,593,883 (GRCm39)	N97S	probably benign	Het
Plekhg4	G	A	8: 106,103,961 (GRCm39)	W431*	probably null	Het
Plk4	A	G	3: 40,767,901 (GRCm39)	T815A	probably benign	Het
Pnma2	C	T	14: 67,153,762 (GRCm39)	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568 (GRCm39)	R548W	probably damaging	Het
Ptx3	A	G	3: 66,132,201 (GRCm39)	S241G	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rplp0	A	T	5: 115,698,823 (GRCm39)	K26N	probably damaging	Het
Sec62	A	C	3: 30,872,931 (GRCm39)	E338A	unknown	Het
Sema6a	T	C	18: 47,382,022 (GRCm39)	M842V	probably benign	Het
Serpina3j	T	C	12: 104,281,043 (GRCm39)	V72A	probably benign	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,705,880 (GRCm39)	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,108,398 (GRCm39)	F54Y	probably benign	Het
Spag6	G	A	2: 18,715,394 (GRCm39)	V80M	probably damaging	Het
Spic	T	C	10: 88,514,498 (GRCm39)	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,898,154 (GRCm39)	K469E	possibly damaging	Het
Them7	T	A	2: 105,128,190 (GRCm39)	L57Q	probably benign	Het
Tlr3	G	A	8: 45,849,978 (GRCm39)	A897V	probably damaging	Het
Tnp2	A	G	16: 10,606,372 (GRCm39)	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,831,332 (GRCm39)	Q1399L	probably benign	Het
Ttn	C	A	2: 76,677,015 (GRCm39)	E11074*	probably null	Het
Ubash3b	G	A	9: 40,954,781 (GRCm39)	A243V	probably benign	Het
Vash1	G	A	12: 86,726,952 (GRCm39)	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,204,981 (GRCm39)	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,562 (GRCm39)	H645L	probably benign	Het
Vmn2r75	A	T	7: 85,797,722 (GRCm39)	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,308,126 (GRCm39)	I704T	probably damaging	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
R5457:Angpt1	UTSW	15	42,386,916 (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
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'- CTCCAAACCCAGGTGACATG -3'
(R):5'- ACAAGGTTGATCAATCTCCAATCAC -3'

Sequencing Primer
(F):5'- CATAACCACTTGCTGCTGGAATGG -3'
(R):5'- GGTTGATCAATCTCCAATCACTCATG -3'

Posted On

2020-10-20