Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Angptl3'

25039

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98919191-98926429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98922706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000030280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030280] [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000205650]

AlphaFold

Q9R182

Predicted Effect

probably benign
Transcript: ENSMUST00000030280
AA Change: V249A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: V249A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
Blast:FBG	195	240	6e-8	BLAST
FBG	241	454	1.5e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030286

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556

Domain	Start	End	E-Value	Type
Pfam:DUF3398	67	159	6.5e-30	PFAM
coiled coil region	367	394	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
Pfam:DOCK-C2	557	736	1.8e-51	PFAM
low complexity region	789	799	N/A	INTRINSIC
low complexity region	862	873	N/A	INTRINSIC
low complexity region	888	901	N/A	INTRINSIC
low complexity region	1135	1163	N/A	INTRINSIC
low complexity region	1350	1364	N/A	INTRINSIC
low complexity region	1543	1565	N/A	INTRINSIC
Pfam:DHR-2	1571	2095	1.4e-217	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075836

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556

Domain	Start	End	E-Value	Type
Pfam:DUF3398	65	159	5.8e-34	PFAM
coiled coil region	367	394	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
Pfam:DOCK-C2	556	737	3.3e-58	PFAM
low complexity region	789	799	N/A	INTRINSIC
low complexity region	862	873	N/A	INTRINSIC
low complexity region	888	901	N/A	INTRINSIC
low complexity region	1105	1133	N/A	INTRINSIC
low complexity region	1320	1334	N/A	INTRINSIC
low complexity region	1513	1535	N/A	INTRINSIC
Pfam:Ded_cyto	1888	2065	6.5e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125546

Predicted Effect

probably benign
Transcript: ENSMUST00000127417

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556

Domain	Start	End	E-Value	Type
low complexity region	140	162	N/A	INTRINSIC
Pfam:Ded_cyto	517	694	3e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136091

Predicted Effect

probably benign
Transcript: ENSMUST00000205650

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

MGI Phenotype

FUNCTION: This gene encodes a member of the angiopoietin-like family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may inhibit triglyceride metabolism. Homozygous knockout mice for this gene exhibit reduced plasma lipid concentrations, including reduced plasma triglyceride concentrations, and enhanced activity of enzymes involved in triglyceride metabolism. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a disruption in this gene display decreased plasma cholesterol and triglyceride levels. A spontaneous mutation results in a similar phenotype except that there is also a reduction in fat pad weight and decreased free fatty acid levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,266,271 (GRCm39)	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,989,835 (GRCm39)	D796A	probably damaging	Het
Actg2	A	T	6: 83,496,896 (GRCm39)	V147E	probably damaging	Het
Adamts13	A	C	2: 26,877,001 (GRCm39)	T534P	probably damaging	Het
Ago1	T	C	4: 126,336,959 (GRCm39)	T249A	probably benign	Het
Ahnak	T	A	19: 8,979,859 (GRCm39)	I381N	probably damaging	Het
Akap9	A	G	5: 4,119,038 (GRCm39)	D3515G	probably benign	Het
Ank	A	G	15: 27,567,658 (GRCm39)	T294A	possibly damaging	Het
Ank1	A	T	8: 23,594,825 (GRCm39)	H204L	probably damaging	Het
Apbb2	A	G	5: 66,468,331 (GRCm39)		probably benign	Het
Arhgap28	A	T	17: 68,208,424 (GRCm39)	S15T	probably benign	Het
Aspm	T	C	1: 139,410,249 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,062,554 (GRCm39)	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,786,860 (GRCm39)	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,801,603 (GRCm39)	F575L	probably damaging	Het
Calhm4	A	G	10: 33,920,043 (GRCm39)	W75R	probably damaging	Het
Calr	C	A	8: 85,569,660 (GRCm39)	K322N	probably benign	Het
Ccdc188	T	C	16: 18,037,169 (GRCm39)	S247P	possibly damaging	Het
Cdr1	T	A	X: 60,228,908 (GRCm39)	D86V	unknown	Het
Cep97	C	T	16: 55,745,421 (GRCm39)	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,681,399 (GRCm39)	C6S	probably damaging	Het
Chd3	C	T	11: 69,247,844 (GRCm39)	D920N	probably damaging	Het
Clk1	T	C	1: 58,452,192 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,905,250 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,507,293 (GRCm39)		probably null	Het
Col17a1	G	T	19: 47,659,801 (GRCm39)		probably benign	Het
Coq7	T	A	7: 118,128,940 (GRCm39)	I32F	possibly damaging	Het
Cox6a2	A	T	7: 127,805,107 (GRCm39)	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,297 (GRCm39)	D436G	probably damaging	Het
Ctso	G	A	3: 81,852,168 (GRCm39)		probably null	Het
Cxadr	A	T	16: 78,131,836 (GRCm39)	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,766,495 (GRCm39)	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,149,115 (GRCm39)	M344L	possibly damaging	Het
Defa35	G	A	8: 21,555,871 (GRCm39)	V77I	probably benign	Het
Dhx57	A	G	17: 80,582,310 (GRCm39)	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,341,441 (GRCm39)	D601E	probably benign	Het
Dnah7a	C	G	1: 53,444,849 (GRCm39)	D3952H	probably damaging	Het
Dnah9	C	A	11: 65,917,798 (GRCm39)		probably benign	Het
Dstyk	C	A	1: 132,384,602 (GRCm39)		probably benign	Het
Efcab2	T	A	1: 178,303,469 (GRCm39)		probably benign	Het
Ehbp1l1	T	C	19: 5,770,598 (GRCm39)	E287G	possibly damaging	Het
Epgn	A	G	5: 91,180,073 (GRCm39)	T87A	probably benign	Het
Erc2	A	C	14: 27,863,182 (GRCm39)	E803A	probably damaging	Het
Fer	A	G	17: 64,446,011 (GRCm39)	*454W	probably null	Het
Glyr1	T	C	16: 4,849,836 (GRCm39)	D179G	probably damaging	Het
Gm12830	T	A	4: 114,702,173 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,967,129 (GRCm39)		probably benign	Het
Gsta3	C	T	1: 21,335,118 (GRCm39)	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,288,200 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il16	T	C	7: 83,371,762 (GRCm39)	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,782,514 (GRCm39)		probably benign	Het
Kdm4c	T	C	4: 74,263,804 (GRCm39)	V696A	probably benign	Het
Kdr	A	G	5: 76,107,587 (GRCm39)		probably benign	Het
Klhl33	T	G	14: 51,128,868 (GRCm39)	H787P	probably damaging	Het
Klk14	A	T	7: 43,343,769 (GRCm39)	T159S	probably benign	Het
Lancl2	A	G	6: 57,680,117 (GRCm39)	N16D	probably damaging	Het
Lemd3	T	C	10: 120,773,015 (GRCm39)	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,489,902 (GRCm39)		probably null	Het
Mpl	T	G	4: 118,303,235 (GRCm39)		probably benign	Het
Myh7b	T	C	2: 155,472,592 (GRCm39)		probably benign	Het
Mylk	A	C	16: 34,732,667 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,969,714 (GRCm39)	M316K	probably benign	Het
Nfib	T	A	4: 82,214,974 (GRCm39)	N543I	probably damaging	Het
Nfix	A	G	8: 85,448,403 (GRCm39)	S375P	probably damaging	Het
Nkrf	T	C	X: 36,153,769 (GRCm39)	Q171R	probably damaging	Het
Nmnat2	T	A	1: 152,952,747 (GRCm39)		probably benign	Het
Npffr2	G	A	5: 89,731,206 (GRCm39)	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904 (GRCm39)		probably benign	Het
Nup98	A	C	7: 101,801,635 (GRCm39)	D212E	probably null	Het
Nwd2	T	C	5: 63,964,561 (GRCm39)	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,237,912 (GRCm39)	R451G	possibly damaging	Het
Or52s1	T	A	7: 102,861,928 (GRCm39)	I287K	probably damaging	Het
Or6c6c	A	G	10: 129,541,008 (GRCm39)	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,737 (GRCm39)	A551T	possibly damaging	Het
Pard3	A	T	8: 128,103,378 (GRCm39)		probably benign	Het
Pcdhb12	G	T	18: 37,569,174 (GRCm39)	V107L	probably benign	Het
Pik3cd	A	T	4: 149,747,677 (GRCm39)	V22D	probably damaging	Het
Pkd1l2	A	G	8: 117,724,315 (GRCm39)	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,877,207 (GRCm39)	I167T	probably damaging	Het
Pphln1	A	T	15: 93,339,588 (GRCm39)	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,756,687 (GRCm39)	N444S	probably damaging	Het
Prdm9	G	A	17: 15,777,646 (GRCm39)	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,369,891 (GRCm39)		probably benign	Het
Prrx1	T	C	1: 163,140,128 (GRCm39)	D26G	possibly damaging	Het
Ptpn5	T	C	7: 46,729,042 (GRCm39)	E495G	probably damaging	Het
Rab23	A	C	1: 33,773,942 (GRCm39)		probably null	Het
Ralgps1	C	T	2: 33,047,935 (GRCm39)	M348I	probably benign	Het
Ranbp2	A	G	10: 58,315,690 (GRCm39)	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,056,374 (GRCm39)	G654V	probably benign	Het
Rc3h2	A	T	2: 37,269,020 (GRCm39)		probably benign	Het
Reg2	G	A	6: 78,383,169 (GRCm39)	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,879,347 (GRCm39)	V7F	probably benign	Het
Sgip1	T	C	4: 102,772,354 (GRCm39)		probably benign	Het
Sgpl1	C	T	10: 60,949,216 (GRCm39)		probably null	Het
Shisa9	G	A	16: 11,814,987 (GRCm39)	V212M	probably damaging	Het
Shq1	G	A	6: 100,550,588 (GRCm39)	P450L	probably benign	Het
Sin3a	A	G	9: 57,018,196 (GRCm39)	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,047,775 (GRCm39)	R1371Q	probably benign	Het
Skint8	T	C	4: 111,796,064 (GRCm39)	V246A	probably benign	Het
Slc22a20	A	T	19: 6,022,985 (GRCm39)	V386D	probably damaging	Het
Slc28a2b	A	T	2: 122,348,034 (GRCm39)	T253S	probably benign	Het
Slc2a7	G	A	4: 150,242,528 (GRCm39)		probably benign	Het
Slc35a2	T	A	X: 7,755,901 (GRCm39)	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,639,344 (GRCm39)	S413I	probably damaging	Het
Sntg2	T	C	12: 30,276,772 (GRCm39)	T427A	probably benign	Het
Soat1	T	C	1: 156,270,023 (GRCm39)	Y132C	probably damaging	Het
Stn1	G	T	19: 47,490,112 (GRCm39)	H342N	probably benign	Het
Tarbp1	T	A	8: 127,165,667 (GRCm39)		probably benign	Het
Tas2r113	A	C	6: 132,870,341 (GRCm39)	K123T	probably damaging	Het
Tbck	C	T	3: 132,440,168 (GRCm39)	Q504*	probably null	Het
Tenm3	C	T	8: 48,794,069 (GRCm39)	C380Y	probably damaging	Het
Tent4a	A	T	13: 69,648,051 (GRCm39)	V781E	possibly damaging	Het
Triobp	A	G	15: 78,860,740 (GRCm39)	D1389G	probably damaging	Het
Trpm4	A	T	7: 44,958,130 (GRCm39)	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,388,182 (GRCm39)	Y281*	probably null	Het
Txndc15	T	C	13: 55,872,395 (GRCm39)	F261S	probably damaging	Het
Ube3b	T	C	5: 114,557,530 (GRCm39)		probably benign	Het
Unc5c	G	C	3: 141,439,694 (GRCm39)	V196L	probably benign	Het
Upf3a	G	A	8: 13,845,500 (GRCm39)		probably null	Het
Vmn2r20	T	C	6: 123,363,063 (GRCm39)	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853 (GRCm39)	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,346,735 (GRCm39)		probably benign	Het
Zbtb18	T	C	1: 177,276,182 (GRCm39)	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,366,722 (GRCm39)	I567T	probably damaging	Het
Zfp598	T	C	17: 24,897,558 (GRCm39)		probably benign	Het

Other mutations in Angptl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Angptl3	APN	4	98,923,077 (GRCm39)	missense	probably damaging	0.99
IGL01859:Angptl3	APN	4	98,925,669 (GRCm39)	nonsense	probably null
IGL02126:Angptl3	APN	4	98,919,738 (GRCm39)	critical splice donor site	probably null
IGL02134:Angptl3	APN	4	98,919,349 (GRCm39)	missense	probably damaging	1.00
IGL02573:Angptl3	APN	4	98,926,171 (GRCm39)	missense	probably damaging	1.00
IGL02756:Angptl3	APN	4	98,919,399 (GRCm39)	missense	probably damaging	1.00
IGL03369:Angptl3	APN	4	98,923,057 (GRCm39)	intron	probably benign
R0549:Angptl3	UTSW	4	98,919,692 (GRCm39)	missense	probably benign	0.00
R0675:Angptl3	UTSW	4	98,921,499 (GRCm39)	missense	probably benign	0.02
R1465:Angptl3	UTSW	4	98,925,757 (GRCm39)	missense	probably benign	0.01
R1465:Angptl3	UTSW	4	98,925,757 (GRCm39)	missense	probably benign	0.01
R1738:Angptl3	UTSW	4	98,921,499 (GRCm39)	missense	probably benign	0.02
R2007:Angptl3	UTSW	4	98,925,634 (GRCm39)	missense	probably damaging	0.99
R2656:Angptl3	UTSW	4	98,926,201 (GRCm39)	missense	probably benign	0.01
R3436:Angptl3	UTSW	4	98,921,540 (GRCm39)	missense	probably benign	0.24
R3437:Angptl3	UTSW	4	98,921,540 (GRCm39)	missense	probably benign	0.24
R3615:Angptl3	UTSW	4	98,922,702 (GRCm39)	missense	probably benign	0.06
R3616:Angptl3	UTSW	4	98,922,702 (GRCm39)	missense	probably benign	0.06
R4161:Angptl3	UTSW	4	98,919,728 (GRCm39)	missense	probably damaging	0.99
R4534:Angptl3	UTSW	4	98,926,232 (GRCm39)	missense	possibly damaging	0.73
R4615:Angptl3	UTSW	4	98,919,598 (GRCm39)	missense	probably benign	0.03
R4835:Angptl3	UTSW	4	98,925,649 (GRCm39)	missense	probably benign	0.36
R5308:Angptl3	UTSW	4	98,922,723 (GRCm39)	missense	probably benign	0.33
R5413:Angptl3	UTSW	4	98,919,259 (GRCm39)	missense	probably benign	0.12
R5668:Angptl3	UTSW	4	98,920,321 (GRCm39)	critical splice acceptor site	probably null
R5906:Angptl3	UTSW	4	98,925,804 (GRCm39)	missense	probably benign	0.07
R6520:Angptl3	UTSW	4	98,926,085 (GRCm39)	missense	probably benign	0.35
R6544:Angptl3	UTSW	4	98,919,675 (GRCm39)	missense	probably damaging	1.00
R6762:Angptl3	UTSW	4	98,925,654 (GRCm39)	missense	possibly damaging	0.91
R7889:Angptl3	UTSW	4	98,919,308 (GRCm39)	missense	probably benign	0.00
R8305:Angptl3	UTSW	4	98,919,548 (GRCm39)	missense	probably damaging	1.00
R8690:Angptl3	UTSW	4	98,925,759 (GRCm39)	missense	probably benign	0.00
R9284:Angptl3	UTSW	4	98,919,480 (GRCm39)	missense	probably benign	0.00
Z1088:Angptl3	UTSW	4	98,922,757 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGCTTCCAGTTAGATCCAAACC -3'
(R):5'- ACTGCCTGGAGAGTGTGAATGAATG -3'

Sequencing Primer
(F):5'- AAACCCTGCACTGAGCTTCTG -3'
(R):5'- CCATTTTCTGTGAGTTGATAACAGGC -3'

Posted On

2013-04-16