Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Angptl4'

239482

Institutional Source

Beutler Lab

Gene Symbol

Angptl4

Ensembl Gene

ENSMUSG00000002289

Gene Name

angiopoietin-like 4

Synonyms

FIAF, BK89, NG27, HFARP

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33773750-33781575 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33775418 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 401 (I401T)

Ref Sequence

ENSEMBL: ENSMUSP00000002360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002360] [ENSMUST00000173869]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002360
AA Change: I401T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: I401T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
coiled coil region	104	151	N/A	INTRINSIC
FBG	187	404	6.6e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173869

SMART Domains

Protein: ENSMUSP00000133417
Gene: ENSMUSG00000002289

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
coiled coil region	104	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174872

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display decreased levels of triglycerides and cholesterol and a lower increase in body fat after exposure to gut microbiota. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Angptl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Angptl4	APN	17	33781268	missense	probably damaging	1.00
R0117:Angptl4	UTSW	17	33780802	missense	probably damaging	1.00
R1225:Angptl4	UTSW	17	33781191	missense	possibly damaging	0.73
R1491:Angptl4	UTSW	17	33781191	missense	possibly damaging	0.73
R1932:Angptl4	UTSW	17	33781275	nonsense	probably null
R2055:Angptl4	UTSW	17	33780524	splice site	probably null
R2959:Angptl4	UTSW	17	33777034	missense	possibly damaging	0.54
R2963:Angptl4	UTSW	17	33777034	missense	possibly damaging	0.54
R3877:Angptl4	UTSW	17	33777034	missense	possibly damaging	0.54
R3881:Angptl4	UTSW	17	33777034	missense	possibly damaging	0.54
R3882:Angptl4	UTSW	17	33777034	missense	possibly damaging	0.54
R4646:Angptl4	UTSW	17	33781299	missense	probably benign	0.00
R4660:Angptl4	UTSW	17	33777275	intron	probably benign
R6192:Angptl4	UTSW	17	33777041	missense	probably benign	0.09
R6591:Angptl4	UTSW	17	33780781	critical splice donor site	probably null
R6691:Angptl4	UTSW	17	33780781	critical splice donor site	probably null
R7350:Angptl4	UTSW	17	33777110	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACGGAAAAGGGGTCCTC -3'
(R):5'- AGTATGGAAACCCAAGACCTTGAC -3'

Sequencing Primer
(F):5'- AAAAGGGGTCCTCCAGTCTCTC -3'
(R):5'- AGACCTTGACCACATCTCCTG -3'

Posted On

2014-10-15