Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Angpt1'

33959

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

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

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42288119-42540373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42331631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 320 (N320S)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

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

AlphaFold

O08538

Predicted Effect

probably benign
Transcript: ENSMUST00000022921
AA Change: N320S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: N320S

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

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	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
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
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'- CTGAACAGCTTCCTGTCCTGATCAC -3'
(R):5'- ACCTGATAAGCCTGCTACCACTGAC -3'

Sequencing Primer
(F):5'- GTTTCTCCCACTAGGAACAAATTC -3'
(R):5'- AAGGTTATACTTTTCAGCCACAC -3'

Posted On

2013-05-09