Mutagenetix > Incidental Mutation

Incidental Mutation 'R1541:Angptl2'

171703

Institutional Source

Beutler Lab

Gene Symbol

Angptl2

Ensembl Gene

ENSMUSG00000004105

Gene Name

angiopoietin-like 2

Synonyms

Arp2

MMRRC Submission

039580-MU

Accession Numbers

Essential gene?

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

Stock #

R1541 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33106081-33137729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33136177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 454 (R454H)

Ref Sequence

ENSEMBL: ENSMUSP00000004208 (fasta)

Gene Model

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

AlphaFold

Q9R045

Predicted Effect

probably benign
Transcript: ENSMUST00000004208
AA Change: R454H

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: R454H

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

noncoding transcript
Transcript: ENSMUST00000143252

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	G	14: 103,286,769 (GRCm39)	D24G	probably damaging	Het
Atat1	T	A	17: 36,215,223 (GRCm39)	N181I	probably damaging	Het
Atp6v0d2	A	C	4: 19,910,645 (GRCm39)	F82V	probably damaging	Het
Calhm4	T	C	10: 33,917,659 (GRCm39)	H264R	probably benign	Het
Casp3	A	G	8: 47,087,369 (GRCm39)	I105M	probably benign	Het
Ccdc33	T	A	9: 58,024,749 (GRCm39)	D159V	probably damaging	Het
Cd163	A	C	6: 124,304,920 (GRCm39)	D1099A	probably benign	Het
Cep128	A	T	12: 91,315,555 (GRCm39)	S110R	probably damaging	Het
Cfap43	A	T	19: 47,752,291 (GRCm39)		probably null	Het
Cfap58	T	C	19: 47,971,969 (GRCm39)	I633T	probably damaging	Het
Clvs1	A	G	4: 9,281,814 (GRCm39)	H86R	probably benign	Het
Comt	T	C	16: 18,230,565 (GRCm39)	K48R	probably benign	Het
Crip2	T	C	12: 113,108,586 (GRCm39)	V64A	possibly damaging	Het
Cstdc5	T	A	16: 36,187,863 (GRCm39)	M1L	probably damaging	Het
Cwf19l2	T	A	9: 3,456,760 (GRCm39)	S698T	probably damaging	Het
Dis3l	T	C	9: 64,214,771 (GRCm39)	I933V	probably benign	Het
Dnah8	C	A	17: 30,966,221 (GRCm39)	N2470K	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Dtx1	T	A	5: 120,848,411 (GRCm39)		probably benign	Het
Dzip1	G	A	14: 119,116,890 (GRCm39)	S782L	probably damaging	Het
Ece1	T	A	4: 137,675,971 (GRCm39)		probably null	Het
Erich1	A	G	8: 14,080,688 (GRCm39)	I277T	probably damaging	Het
Gbp4	T	A	5: 105,266,275 (GRCm39)	M589L	probably benign	Het
Grip1	T	C	10: 119,836,448 (GRCm39)	I440T	probably damaging	Het
Helz	C	T	11: 107,560,874 (GRCm39)	S1311L	probably benign	Het
Herc2	A	T	7: 55,785,405 (GRCm39)	I1552F	probably damaging	Het
Kif13a	T	C	13: 46,962,689 (GRCm39)	T459A	probably benign	Het
Knop1	G	A	7: 118,455,009 (GRCm39)		probably benign	Het
Llgl2	C	A	11: 115,743,947 (GRCm39)	T758K	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc71	T	C	3: 87,649,148 (GRCm39)	D340G	possibly damaging	Het
Luzp1	A	G	4: 136,270,636 (GRCm39)	D953G	probably damaging	Het
Mst1r	T	C	9: 107,794,562 (GRCm39)	V1247A	probably damaging	Het
Ncoa4	A	T	14: 31,898,845 (GRCm39)	K555M	probably damaging	Het
Ncoa6	A	T	2: 155,257,224 (GRCm39)	L773Q	probably benign	Het
Ndc1	C	T	4: 107,228,485 (GRCm39)	Q70*	probably null	Het
Nfe2l3	C	T	6: 51,434,585 (GRCm39)	L382F	probably damaging	Het
Nlrp4b	C	A	7: 10,458,979 (GRCm39)	T399N	possibly damaging	Het
Nsmce2	T	A	15: 59,473,234 (GRCm39)	D250E	probably damaging	Het
Nudt14	A	T	12: 112,898,548 (GRCm39)	L184Q	probably damaging	Het
Ogdhl	G	A	14: 32,062,624 (GRCm39)	R570H	possibly damaging	Het
Or5p56	T	C	7: 107,590,048 (GRCm39)	F159L	probably benign	Het
Pira13	T	C	7: 3,819,988 (GRCm39)	D525G	probably damaging	Het
Plag1	A	G	4: 3,904,085 (GRCm39)	S369P	probably benign	Het
Ranbp2	A	T	10: 58,318,916 (GRCm39)	T2476S	possibly damaging	Het
Rnmt	T	C	18: 68,440,853 (GRCm39)	L172P	probably damaging	Het
Sec24a	T	A	11: 51,634,623 (GRCm39)	H101L	probably benign	Het
Sirpd	T	A	3: 15,385,744 (GRCm39)	T53S	possibly damaging	Het
Srm	A	G	4: 148,677,881 (GRCm39)	D173G	probably damaging	Het
Srp54b	A	G	12: 55,302,844 (GRCm39)	D380G	probably benign	Het
Svs5	C	T	2: 164,078,929 (GRCm39)	R326Q	possibly damaging	Het
Tent4b	T	C	8: 88,972,227 (GRCm39)	V222A	probably damaging	Het
Tfap2b	C	T	1: 19,304,294 (GRCm39)	T350M	probably damaging	Het
Tie1	A	T	4: 118,341,070 (GRCm39)	C304S	probably damaging	Het
Tsc2	G	T	17: 24,850,950 (GRCm39)	T36N	probably damaging	Het
Wdhd1	A	T	14: 47,505,649 (GRCm39)	Y274*	probably null	Het
Wdr37	T	C	13: 8,870,574 (GRCm39)	T373A	probably benign	Het
Xirp2	A	T	2: 67,342,634 (GRCm39)	N1625I	possibly damaging	Het
Ythdf1	A	C	2: 180,560,936 (GRCm39)	S35A	probably damaging	Het
Zfp462	A	G	4: 55,008,928 (GRCm39)	N298S	possibly damaging	Het
Zfp541	T	A	7: 15,812,437 (GRCm39)	D363E	probably benign	Het
Zgpat	A	G	2: 181,020,658 (GRCm39)	D277G	probably benign	Het
Znfx1	A	T	2: 166,898,110 (GRCm39)	N271K	probably damaging	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
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
R8719:Angptl2	UTSW	2	33,133,914 (GRCm39)	missense	possibly damaging	0.74
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'- AGGCCACTTCCATTTTCACCTGAG -3'
(R):5'- TGACAGAGCCACATTGGAAAGCAC -3'

Sequencing Primer
(F):5'- gctgcctatctgtaatctaccatc -3'
(R):5'- TTGGAAAGCACAGTCCTCC -3'

Posted On

2014-04-13