Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Angpt2'

570424

Institutional Source

Beutler Lab

Gene Symbol

Angpt2

Ensembl Gene

ENSMUSG00000031465

Gene Name

angiopoietin 2

Synonyms

Ang-2, Ang2

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18740279-18791578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18742090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 489 (M489L)

Ref Sequence

ENSEMBL: ENSMUSP00000033846 (fasta)

Gene Model

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

AlphaFold

O35608

Predicted Effect

probably damaging
Transcript: ENSMUST00000033846
AA Change: M489L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: M489L

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atg16l2	T	C	7: 100,939,473 (GRCm39)	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gtpbp10	T	C	5: 5,605,379 (GRCm39)	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pigk	T	C	3: 152,453,238 (GRCm39)	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTCCAGACTGCAGTGC -3'
(R):5'- CAGCTACCCAGTCCTAATTGC -3'

Sequencing Primer
(F):5'- CAGGCTTAAGTGATGCGCTTCAG -3'
(R):5'- AGCTACCCAGTCCTAATTGCTTCTG -3'

Posted On

2019-09-13