Mutagenetix > Incidental Mutation

Incidental Mutation 'P0037:Angpt2'

7737

Institutional Source

Beutler Lab

Gene Symbol

Angpt2

Ensembl Gene

ENSMUSG00000031465

Gene Name

angiopoietin 2

Synonyms

Ang-2, Ang2

MMRRC Submission

038286-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

P0037 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

18740279-18791578 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 18764259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033846] [ENSMUST00000039412] [ENSMUST00000124910]

AlphaFold

O35608

Predicted Effect

probably benign
Transcript: ENSMUST00000033846

SMART Domains

Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
coiled coil region	166	248	N/A	INTRINSIC
FBG	279	494	9.43e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039412

SMART Domains

Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
BRCT	13	89	2.64e-4	SMART
coiled coil region	128	155	N/A	INTRINSIC
Pfam:Microcephalin	224	597	1.2e-143	PFAM
BRCT	624	707	2.23e-2	SMART
BRCT	740	810	1.55e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124910

SMART Domains

Protein: ENSMUSP00000131698
Gene: ENSMUSG00000039842

Domain	Start	End	E-Value	Type
BRCT	13	89	2.64e-4	SMART

Coding Region Coverage

1x: 81.9%
3x: 74.9%
10x: 53.1%
20x: 30.8%

Validation Efficiency

70% (70/100)

MGI Phenotype

FUNCTION: This gene encodes an endothelial cell (EC)-derived regulator of angiogenesis and ligand for endothelial-specific receptor tyrosine kinase. The encoded protein acts as an anti-apoptotic factor for stressed ECs and a proapoptotic factor for resting ECs. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous inactivation of this gene results in impaired angiogenesis, abnormal lymphatic development and function, and ultimately postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih1	A	G	9: 59,313,076 (GRCm39)	V1A	possibly damaging	Het
Cntn3	T	C	6: 102,186,235 (GRCm39)	D584G	probably damaging	Het
Dnah10	G	A	5: 124,895,056 (GRCm39)	W3471*	probably null	Het
Mmrn2	G	A	14: 34,125,022 (GRCm39)	V868M	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Setd1b	T	C	5: 123,303,984 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,608 (GRCm39)	I2385T	probably benign	Het
Trpm7	T	C	2: 126,658,677 (GRCm39)		probably benign	Het
Wdr87-ps	A	G	7: 29,233,039 (GRCm39)		noncoding transcript	Het
Wdr95	A	G	5: 149,511,536 (GRCm39)	N412S	probably benign	Het
Zmiz2	T	C	11: 6,353,885 (GRCm39)	I755T	probably damaging	Het

Other mutations in Angpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Angpt2	APN	8	18,760,544 (GRCm39)	missense	probably benign	0.01
IGL01449:Angpt2	APN	8	18,760,641 (GRCm39)	missense	probably benign	0.01
IGL03088:Angpt2	APN	8	18,791,039 (GRCm39)	missense	probably benign	0.09
R0308:Angpt2	UTSW	8	18,742,141 (GRCm39)	missense	possibly damaging	0.93
R1099:Angpt2	UTSW	8	18,749,149 (GRCm39)	missense	probably damaging	1.00
R1113:Angpt2	UTSW	8	18,742,134 (GRCm39)	nonsense	probably null
R1264:Angpt2	UTSW	8	18,791,233 (GRCm39)	missense	probably benign	0.00
R1308:Angpt2	UTSW	8	18,742,134 (GRCm39)	nonsense	probably null
R1518:Angpt2	UTSW	8	18,755,855 (GRCm39)	missense	probably benign	0.00
R1595:Angpt2	UTSW	8	18,748,129 (GRCm39)	missense	probably damaging	1.00
R2016:Angpt2	UTSW	8	18,755,747 (GRCm39)	missense	probably damaging	0.96
R2017:Angpt2	UTSW	8	18,755,747 (GRCm39)	missense	probably damaging	0.96
R2050:Angpt2	UTSW	8	18,755,673 (GRCm39)	missense	probably benign
R2142:Angpt2	UTSW	8	18,764,156 (GRCm39)	missense	probably benign	0.39
R2184:Angpt2	UTSW	8	18,742,132 (GRCm39)	missense	probably benign	0.00
R3028:Angpt2	UTSW	8	18,753,560 (GRCm39)	missense	probably benign	0.01
R4096:Angpt2	UTSW	8	18,748,111 (GRCm39)	missense	probably damaging	0.97
R4112:Angpt2	UTSW	8	18,749,139 (GRCm39)	missense	probably damaging	1.00
R4738:Angpt2	UTSW	8	18,791,075 (GRCm39)	missense	probably benign	0.07
R4790:Angpt2	UTSW	8	18,764,098 (GRCm39)	missense	probably damaging	1.00
R4935:Angpt2	UTSW	8	18,742,131 (GRCm39)	missense	probably damaging	1.00
R6056:Angpt2	UTSW	8	18,748,132 (GRCm39)	missense	probably benign	0.00
R6499:Angpt2	UTSW	8	18,744,533 (GRCm39)	missense	probably benign
R6938:Angpt2	UTSW	8	18,748,105 (GRCm39)	nonsense	probably null
R7211:Angpt2	UTSW	8	18,791,147 (GRCm39)	missense	probably benign
R7323:Angpt2	UTSW	8	18,755,840 (GRCm39)	missense	probably benign	0.13
R7349:Angpt2	UTSW	8	18,742,090 (GRCm39)	missense	probably damaging	0.99
R7746:Angpt2	UTSW	8	18,742,080 (GRCm39)	missense	probably damaging	1.00
R7812:Angpt2	UTSW	8	18,742,161 (GRCm39)	missense	probably benign	0.43
R8346:Angpt2	UTSW	8	18,791,135 (GRCm39)	nonsense	probably null
R8348:Angpt2	UTSW	8	18,791,135 (GRCm39)	nonsense	probably null
R8508:Angpt2	UTSW	8	18,791,135 (GRCm39)	nonsense	probably null
R8509:Angpt2	UTSW	8	18,791,135 (GRCm39)	nonsense	probably null
R9138:Angpt2	UTSW	8	18,764,162 (GRCm39)	missense	probably benign	0.06
R9182:Angpt2	UTSW	8	18,760,658 (GRCm39)	critical splice acceptor site	probably null
R9211:Angpt2	UTSW	8	18,748,078 (GRCm39)	missense	probably benign	0.01
R9309:Angpt2	UTSW	8	18,749,172 (GRCm39)	missense	probably damaging	1.00
R9476:Angpt2	UTSW	8	18,764,143 (GRCm39)	missense	probably benign	0.03

Posted On

2012-10-29