Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Angptl4'

163781

Institutional Source

Beutler Lab

Gene Symbol

Angptl4

Ensembl Gene

ENSMUSG00000002289

Gene Name

angiopoietin-like 4

Synonyms

HFARP, BK89, FIAF, NG27

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1491 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

33993874-34000549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34000165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 68 (A68T)

Ref Sequence

ENSEMBL: ENSMUSP00000133417 (fasta)

Gene Model

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

AlphaFold

Q9Z1P8

Predicted Effect

probably benign
Transcript: ENSMUST00000002360
AA Change: A68T

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: A68T

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

noncoding transcript
Transcript: ENSMUST00000173637

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173869
AA Change: A68T

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133417
Gene: ENSMUSG00000002289
AA Change: A68T

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

0.1279

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (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
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
R3877: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'- AGTCAGAGTCCTAGTAGATGCGCC -3'
(R):5'- ACCAGAGCAAGTCTAAGTCTGAGCC -3'

Sequencing Primer
(F):5'- CTAGTAGATGCGCCTACCTG -3'
(R):5'- AGTCCTAGCGTTGCTGCAC -3'

Posted On

2014-03-28