Mutagenetix > Incidental Mutation

Incidental Mutation 'R8719:Angptl2'

669994

Institutional Source

Beutler Lab

Gene Symbol

Angptl2

Ensembl Gene

ENSMUSG00000004105

Gene Name

angiopoietin-like 2

Synonyms

Arp2

MMRRC Submission

068614-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R8719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33106081-33137729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33133914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 412 (N412S)

Ref Sequence

ENSEMBL: ENSMUSP00000004208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004208] [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298] [ENSMUST00000193373]

AlphaFold

Q9R045

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004208
AA Change: N412S

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: N412S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	77	113	N/A	INTRINSIC
coiled coil region	152	180	N/A	INTRINSIC
low complexity region	205	228	N/A	INTRINSIC
FBG	273	488	3.62e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042615

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	273	4.59e-86	SMART
low complexity region	286	301	N/A	INTRINSIC
PH	372	485	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091039

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
low complexity region	397	411	N/A	INTRINSIC
PH	460	573	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113165

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
low complexity region	397	411	N/A	INTRINSIC
PH	459	572	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131298

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
PH	390	503	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193373

SMART Domains

Protein: ENSMUSP00000142084
Gene: ENSMUSG00000004105

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fibrinogen_C	49	112	4.2e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,700 (GRCm39)	I224T	probably benign	Het
Adamts20	C	G	15: 94,241,903 (GRCm39)	A702P	probably damaging	Het
Ahdc1	T	A	4: 132,791,533 (GRCm39)	Y925N	possibly damaging	Het
Anapc1	T	C	2: 128,483,369 (GRCm39)	E1242G	probably damaging	Het
Aox3	T	C	1: 58,158,696 (GRCm39)	V89A	probably damaging	Het
Atxn1l	A	T	8: 110,459,861 (GRCm39)	S134T	possibly damaging	Het
Brf1	C	A	12: 112,943,304 (GRCm39)		probably benign	Het
Cab39l	A	T	14: 59,734,314 (GRCm39)	H11L	probably benign	Het
Cabcoco1	A	G	10: 68,272,671 (GRCm39)		probably benign	Het
Ccdc150	C	A	1: 54,302,668 (GRCm39)	P96Q	probably benign	Het
Chek2	T	C	5: 111,014,908 (GRCm39)	V459A	probably damaging	Het
Cntnap2	A	T	6: 45,978,161 (GRCm39)	D272V	probably damaging	Het
Cspp1	T	C	1: 10,160,516 (GRCm39)	S572P	possibly damaging	Het
Cysltr2	T	C	14: 73,267,111 (GRCm39)	T200A	possibly damaging	Het
Dglucy	T	C	12: 100,804,821 (GRCm39)	L104P	probably damaging	Het
Dnah8	T	A	17: 30,960,289 (GRCm39)	M2222K	probably damaging	Het
Dync2h1	C	A	9: 7,041,641 (GRCm39)	V3334F	probably benign	Het
Ear2	A	T	14: 44,340,734 (GRCm39)	T131S	possibly damaging	Het
Eef1akmt2	A	T	7: 132,452,340 (GRCm39)	V92D	probably damaging	Het
Fam83c	T	A	2: 155,671,128 (GRCm39)	Q769L	probably benign	Het
Fanca	A	T	8: 124,014,867 (GRCm39)	C812S	probably benign	Het
Gm21663	T	G	5: 26,146,162 (GRCm39)	R50S	probably damaging	Het
Gm5591	T	G	7: 38,221,614 (GRCm39)	S152R	probably benign	Het
Gm6370	T	G	5: 146,430,626 (GRCm39)	D270E	probably damaging	Het
H2-T22	T	C	17: 36,352,835 (GRCm39)	I91V	probably benign	Het
Hdac5	T	C	11: 102,097,963 (GRCm39)	M61V	probably benign	Het
Hsd17b6	A	G	10: 127,829,492 (GRCm39)	S237P	possibly damaging	Het
Khk	T	A	5: 31,088,374 (GRCm39)	F294I	possibly damaging	Het
Klc1	G	A	12: 111,772,509 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,006,099 (GRCm39)	W143R	probably damaging	Het
Lmo2	T	C	2: 103,811,264 (GRCm39)	I171T	probably damaging	Het
Meis1	A	G	11: 18,835,587 (GRCm39)	S344P	probably benign	Het
Nf1	C	A	11: 79,281,119 (GRCm39)	R125S	possibly damaging	Het
Nrcam	A	G	12: 44,586,325 (GRCm39)	E105G	probably benign	Het
Nudt22	T	C	19: 6,972,638 (GRCm39)	D150G	possibly damaging	Het
Or14j8	T	C	17: 38,263,895 (GRCm39)	T7A	probably damaging	Het
Or5an1	A	G	19: 12,260,792 (GRCm39)	I127V	probably benign	Het
Or5b109	A	G	19: 13,211,836 (GRCm39)	Y74C	probably damaging	Het
Pclo	A	T	5: 14,763,778 (GRCm39)	R799*	probably null	Het
Pelp1	T	C	11: 70,292,789 (GRCm39)	N175S	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pik3r4	C	A	9: 105,559,394 (GRCm39)	S1162R	probably benign	Het
Pkd1l3	A	T	8: 110,341,255 (GRCm39)	N36I	unknown	Het
Pomk	T	A	8: 26,473,503 (GRCm39)	Y150F	possibly damaging	Het
Rdh11	T	A	12: 79,229,574 (GRCm39)	H233L	probably benign	Het
Rln1	A	T	19: 29,309,281 (GRCm39)	M166K	probably benign	Het
Rnf40	T	A	7: 127,191,834 (GRCm39)	L356Q	probably damaging	Het
Sin3b	G	T	8: 73,450,139 (GRCm39)	G19W	unknown	Het
Slc6a15	A	G	10: 103,240,176 (GRCm39)	R300G	probably damaging	Het
Sncaip	A	T	18: 53,027,910 (GRCm39)	K433M	probably damaging	Het
Tead2	A	T	7: 44,882,316 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Tmem117	T	C	15: 94,992,248 (GRCm39)	F303L	probably damaging	Het
Tmem270	T	G	5: 134,930,650 (GRCm39)	T204P	probably damaging	Het
Trip12	A	G	1: 84,722,790 (GRCm39)	V1320A	probably damaging	Het
Ttc7b	A	G	12: 100,267,812 (GRCm39)	L843P	probably damaging	Het
Ttn	T	C	2: 76,543,041 (GRCm39)	Y33315C	probably damaging	Het
Ttn	A	G	2: 76,607,146 (GRCm39)	V17959A	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,095 (GRCm39)	V291A	probably damaging	Het
Ywhag	T	A	5: 135,939,998 (GRCm39)	T199S	probably benign	Het
Zfp810	T	C	9: 22,190,571 (GRCm39)	T77A	probably benign	Het

Other mutations in Angptl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Angptl2	APN	2	33,118,406 (GRCm39)	missense	probably damaging	1.00
IGL00585:Angptl2	APN	2	33,136,239 (GRCm39)	missense	probably damaging	0.98
IGL00900:Angptl2	APN	2	33,133,784 (GRCm39)	missense	probably benign	0.00
IGL01521:Angptl2	APN	2	33,136,215 (GRCm39)	missense	probably damaging	1.00
IGL02711:Angptl2	APN	2	33,118,255 (GRCm39)	missense	probably benign	0.00
IGL02826:Angptl2	APN	2	33,118,327 (GRCm39)	missense	probably benign	0.19
Bloodhound	UTSW	2	33,118,342 (GRCm39)	missense	probably benign
Grazie	UTSW	2	33,133,922 (GRCm39)	nonsense	probably null
Huntress	UTSW	2	33,118,814 (GRCm39)	missense	probably benign	0.02
R1309:Angptl2	UTSW	2	33,136,140 (GRCm39)	missense	probably benign	0.38
R1541:Angptl2	UTSW	2	33,136,177 (GRCm39)	missense	probably benign	0.26
R1542:Angptl2	UTSW	2	33,118,897 (GRCm39)	missense	probably benign	0.24
R1604:Angptl2	UTSW	2	33,133,785 (GRCm39)	missense	possibly damaging	0.89
R3432:Angptl2	UTSW	2	33,118,814 (GRCm39)	missense	probably benign	0.02
R4331:Angptl2	UTSW	2	33,118,760 (GRCm39)	missense	probably damaging	0.99
R4652:Angptl2	UTSW	2	33,133,895 (GRCm39)	missense	probably damaging	1.00
R4741:Angptl2	UTSW	2	33,136,200 (GRCm39)	missense	probably benign	0.12
R5107:Angptl2	UTSW	2	33,118,615 (GRCm39)	missense	probably damaging	0.98
R5504:Angptl2	UTSW	2	33,119,050 (GRCm39)	intron	probably benign
R5694:Angptl2	UTSW	2	33,118,628 (GRCm39)	missense	probably damaging	1.00
R5967:Angptl2	UTSW	2	33,118,718 (GRCm39)	missense	probably damaging	1.00
R6185:Angptl2	UTSW	2	33,119,026 (GRCm39)	missense	probably benign	0.00
R6797:Angptl2	UTSW	2	33,118,277 (GRCm39)	missense	probably benign	0.00
R7151:Angptl2	UTSW	2	33,133,922 (GRCm39)	nonsense	probably null
R7471:Angptl2	UTSW	2	33,133,751 (GRCm39)	missense	possibly damaging	0.89
R7742:Angptl2	UTSW	2	33,133,928 (GRCm39)	missense	probably damaging	1.00
R7763:Angptl2	UTSW	2	33,132,394 (GRCm39)	nonsense	probably null
R8927:Angptl2	UTSW	2	33,132,316 (GRCm39)	missense	probably benign	0.35
R8928:Angptl2	UTSW	2	33,132,316 (GRCm39)	missense	probably benign	0.35
R9204:Angptl2	UTSW	2	33,118,342 (GRCm39)	missense	probably benign
R9663:Angptl2	UTSW	2	33,118,231 (GRCm39)	missense	probably benign	0.02
R9775:Angptl2	UTSW	2	33,118,230 (GRCm39)	start codon destroyed	probably null	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCAAGGGTTTGGGAACATC -3'
(R):5'- GAAGGACTTGGTAAAGCTGCC -3'

Sequencing Primer
(F):5'- CTGGAGAACATCTACTGGCTGAC -3'
(R):5'- TTGGTAAAGCTGCCTGACAC -3'

Posted On

2021-04-30