Mutagenetix > Incidental Mutation

Incidental Mutation 'R3877:Angptl4'

276922

Institutional Source

Beutler Lab

Gene Symbol

Angptl4

Ensembl Gene

ENSMUSG00000002289

Gene Name

angiopoietin-like 4

Synonyms

HFARP, BK89, FIAF, NG27

MMRRC Submission

040904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33993874-34000549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33996008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 323 (P323S)

Ref Sequence

ENSEMBL: ENSMUSP00000002360 (fasta)

Gene Model

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

AlphaFold

Q9Z1P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002360
AA Change: P323S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: P323S

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

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,249,671 (GRCm39)	V594I	possibly damaging	Het
Adgb	A	T	10: 10,318,227 (GRCm39)		probably null	Het
Adgrb3	A	C	1: 25,150,906 (GRCm39)	L1109R	probably damaging	Het
Arhgap21	A	T	2: 20,864,717 (GRCm39)	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,239,742 (GRCm39)	T1319A	probably damaging	Het
C4bp	A	G	1: 130,575,764 (GRCm39)		probably null	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Ckap5	A	G	2: 91,445,495 (GRCm39)	K1711E	possibly damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Cplane1	T	C	15: 8,251,427 (GRCm39)	S1900P	probably benign	Het
Dnah17	T	G	11: 117,915,533 (GRCm39)	N4334T	probably damaging	Het
Dpm2	G	A	2: 32,462,412 (GRCm39)		probably null	Het
Eef1a2	A	T	2: 180,794,626 (GRCm39)	V191E	probably damaging	Het
Gmds	G	A	13: 32,411,248 (GRCm39)	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,630 (GRCm39)	I168F	probably damaging	Het
Idh3a	T	C	9: 54,499,679 (GRCm39)	V31A	probably benign	Het
Inf2	C	A	12: 112,577,264 (GRCm39)	A1036E	unknown	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	T	A	12: 25,051,564 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Lrp2	A	G	2: 69,289,816 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,379,391 (GRCm39)	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,255,547 (GRCm39)	E184G	probably benign	Het
Mapre1	C	T	2: 153,588,201 (GRCm39)	T8M	possibly damaging	Het
Mms19	G	A	19: 41,954,695 (GRCm39)	Q75*	probably null	Het
Mtcl1	T	C	17: 66,649,949 (GRCm39)	I1390V	probably damaging	Het
Muc5b	A	G	7: 141,411,289 (GRCm39)	S1412G	unknown	Het
Myh4	A	T	11: 67,148,009 (GRCm39)	Q1686L	probably benign	Het
Or1e25	A	T	11: 73,493,979 (GRCm39)	D191V	probably damaging	Het
Or9s13	A	T	1: 92,547,805 (GRCm39)	D59V	probably damaging	Het
Rcvrn	A	T	11: 67,590,802 (GRCm39)	I129F	probably damaging	Het
Reg3b	T	A	6: 78,348,216 (GRCm39)	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,850,529 (GRCm39)	E918V	probably damaging	Het
Rpl5	A	G	5: 108,051,667 (GRCm39)	T154A	probably benign	Het
Sall4	A	C	2: 168,598,162 (GRCm39)	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,297,618 (GRCm39)	S199P	possibly damaging	Het
Shank1	G	T	7: 43,994,416 (GRCm39)	R859L	unknown	Het
Thsd7b	A	G	1: 130,117,919 (GRCm39)	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 51,942,339 (GRCm39)	E216G	probably benign	Het
Tram1	T	C	1: 13,639,827 (GRCm39)	T307A	probably benign	Het
Trpv5	A	G	6: 41,637,277 (GRCm39)	V354A	probably benign	Het
Tyro3	A	G	2: 119,643,774 (GRCm39)	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,408 (GRCm39)	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,491,357 (GRCm39)	W297R	probably damaging	Het
Vrk3	A	T	7: 44,412,460 (GRCm39)		probably null	Het
Zfhx4	T	C	3: 5,465,845 (GRCm39)	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Angptl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Angptl4	APN	17	34,000,242 (GRCm39)	missense	probably damaging	1.00
R0117:Angptl4	UTSW	17	33,999,776 (GRCm39)	missense	probably damaging	1.00
R1225:Angptl4	UTSW	17	34,000,165 (GRCm39)	missense	possibly damaging	0.73
R1491:Angptl4	UTSW	17	34,000,165 (GRCm39)	missense	possibly damaging	0.73
R1932:Angptl4	UTSW	17	34,000,249 (GRCm39)	nonsense	probably null
R2055:Angptl4	UTSW	17	33,999,498 (GRCm39)	splice site	probably null
R2212:Angptl4	UTSW	17	33,994,392 (GRCm39)	missense	probably damaging	0.99
R2959:Angptl4	UTSW	17	33,996,008 (GRCm39)	missense	possibly damaging	0.54
R2963:Angptl4	UTSW	17	33,996,008 (GRCm39)	missense	possibly damaging	0.54
R3881:Angptl4	UTSW	17	33,996,008 (GRCm39)	missense	possibly damaging	0.54
R3882:Angptl4	UTSW	17	33,996,008 (GRCm39)	missense	possibly damaging	0.54
R4646:Angptl4	UTSW	17	34,000,273 (GRCm39)	missense	probably benign	0.00
R4660:Angptl4	UTSW	17	33,996,249 (GRCm39)	intron	probably benign
R6192:Angptl4	UTSW	17	33,996,015 (GRCm39)	missense	probably benign	0.09
R6591:Angptl4	UTSW	17	33,999,755 (GRCm39)	critical splice donor site	probably null
R6691:Angptl4	UTSW	17	33,999,755 (GRCm39)	critical splice donor site	probably null
R7350:Angptl4	UTSW	17	33,996,084 (GRCm39)	missense	probably damaging	1.00
R9110:Angptl4	UTSW	17	33,999,800 (GRCm39)	missense	probably benign	0.00
R9192:Angptl4	UTSW	17	34,000,285 (GRCm39)	missense	probably benign	0.04
R9388:Angptl4	UTSW	17	33,996,158 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAGCTCTGTGCCAGAATG -3'
(R):5'- TGCACAGCATCACAGGGAAC -3'

Sequencing Primer
(F):5'- TTCAATGACTGGCCCATAGG -3'
(R):5'- ACCGAGGAAGCCAATTGG -3'

Posted On

2015-04-06