Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Angpt2'

694151

Institutional Source

Beutler Lab

Gene Symbol

Angpt2

Ensembl Gene

ENSMUSG00000031465

Gene Name

angiopoietin 2

Synonyms

Ang-2, Ang2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18740279-18791578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18764162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 127 (I127V)

Ref Sequence

ENSEMBL: ENSMUSP00000033846 (fasta)

Gene Model

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

AlphaFold

O35608

Predicted Effect

probably benign
Transcript: ENSMUST00000033846
AA Change: I127V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: I127V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Caln1	T	C	5: 130,698,449 (GRCm39)	L157P	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lct	T	C	1: 128,227,894 (GRCm39)	I1200V	probably benign	Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Or5b123	T	A	19: 13,596,658 (GRCm39)	M44K	probably damaging	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Septin7	A	G	9: 25,212,761 (GRCm39)	Y309C	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Upf2	T	A	2: 6,028,132 (GRCm39)	D739E	unknown	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	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
P0037:Angpt2	UTSW	8	18,764,259 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTGAAGCCAATCCCTTC -3'
(R):5'- TCAAGCAACAGAGCGAGTGC -3'

Sequencing Primer
(F):5'- TGAAGCCAATCCCTTCCTCCAC -3'
(R):5'- AACAGAGCGAGTGCCTCTG -3'

Posted On

2022-01-20