Mutagenetix > Incidental Mutation

Incidental Mutation 'R5526:Angpt1'

431878

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

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

MMRRC Submission

043084-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42288119-42540373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42375737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 173 (L173P)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

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

AlphaFold

O08538

Predicted Effect

probably damaging
Transcript: ENSMUST00000022921
AA Change: L173P

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

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: L173P

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,331,605 (GRCm39)	M1315K	probably benign	Het
Abcc4	C	T	14: 118,868,449 (GRCm39)	V168I	probably benign	Het
Add3	T	A	19: 53,215,038 (GRCm39)	L71Q	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Crls1	T	A	2: 132,703,165 (GRCm39)	M205K	possibly damaging	Het
Cspg4b	T	C	13: 113,504,427 (GRCm39)	V1852A	probably benign	Het
Dhtkd1	A	T	2: 5,916,662 (GRCm39)	N671K	probably damaging	Het
Dmbt1	A	T	7: 130,642,920 (GRCm39)	D246V	probably damaging	Het
Dolk	G	A	2: 30,175,820 (GRCm39)	A75V	probably damaging	Het
Dtna	T	A	18: 23,779,287 (GRCm39)	V623E	probably damaging	Het
Elavl3	T	C	9: 21,947,622 (GRCm39)	T106A	probably benign	Het
Ergic1	T	C	17: 26,843,652 (GRCm39)	C41R	probably damaging	Het
Fat2	T	A	11: 55,160,187 (GRCm39)	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,207,559 (GRCm39)	R978L	possibly damaging	Het
Fzd6	A	T	15: 38,894,559 (GRCm39)	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,926,004 (GRCm39)	H87L	probably benign	Het
Gatad2a	T	C	8: 70,388,591 (GRCm39)	E32G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm11541	G	T	11: 94,594,944 (GRCm39)	H41Q	unknown	Het
Has3	A	G	8: 107,600,579 (GRCm39)	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,279,869 (GRCm39)	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,891,069 (GRCm39)	N428S	probably benign	Het
Lipo5	A	T	19: 33,445,284 (GRCm39)	V95D	unknown	Het
Lrp1	A	T	10: 127,391,593 (GRCm39)	V2942D	probably benign	Het
Map1a	T	C	2: 121,136,143 (GRCm39)	S2082P	probably damaging	Het
Mast4	T	C	13: 102,890,723 (GRCm39)	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,316,147 (GRCm39)	L13*	probably null	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nlrp9c	T	A	7: 26,081,791 (GRCm39)	N645I	possibly damaging	Het
Or12d17	T	A	17: 37,778,003 (GRCm39)	L302Q	unknown	Het
Or12e7	T	C	2: 87,288,109 (GRCm39)	I200T	probably benign	Het
Or14j7	T	A	17: 38,235,383 (GRCm39)	*309K	probably null	Het
Or7e166	C	A	9: 19,624,994 (GRCm39)	Y290*	probably null	Het
Or8g52	A	T	9: 39,630,892 (GRCm39)	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,187,090 (GRCm39)	V286A	possibly damaging	Het
Phax	C	T	18: 56,717,382 (GRCm39)	T275I	probably damaging	Het
Phf21b	A	G	15: 84,676,006 (GRCm39)	V335A	probably benign	Het
Psg18	A	T	7: 18,083,273 (GRCm39)	L173H	probably damaging	Het
Rab3ip	T	C	10: 116,754,834 (GRCm39)	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,274,705 (GRCm39)	V202A	probably damaging	Het
Rpn2	T	C	2: 157,165,187 (GRCm39)	L611P	probably damaging	Het
Runx2	T	G	17: 45,035,749 (GRCm39)	T148P	probably damaging	Het
Sbpl	C	A	17: 24,173,623 (GRCm39)	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,350,237 (GRCm39)	P879L	probably damaging	Het
Sfn	T	C	4: 133,328,915 (GRCm39)	R56G	probably damaging	Het
Spata31g1	T	C	4: 42,972,125 (GRCm39)	V486A	possibly damaging	Het
Tas2r138	C	T	6: 40,589,914 (GRCm39)	A111T	probably benign	Het
Tasp1	A	T	2: 139,850,709 (GRCm39)	S105T	probably damaging	Het
Tmem225	T	G	9: 40,062,002 (GRCm39)	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,481,267 (GRCm39)	S640P	probably damaging	Het
Utp4	G	A	8: 107,644,265 (GRCm39)	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,273 (GRCm39)	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,522,069 (GRCm39)	L9P	probably benign	Het
Zcchc2	T	A	1: 105,957,984 (GRCm39)	C420*	probably null	Het
Zfp804a	A	G	2: 82,088,934 (GRCm39)	D921G	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
R5457:Angpt1	UTSW	15	42,386,916 (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'- GAACACAGGCCCAATGGTTG -3'
(R):5'- CATCATATGCCTAAGTCATTCGG -3'

Sequencing Primer
(F):5'- CCAATGGTTGACACATTGGC -3'
(R):5'- CTCAAGGATTTTTTGCTACTTG -3'

Posted On

2016-10-05