Mutagenetix > Incidental Mutation

Incidental Mutation 'R3615:Angptl3'

268421

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R3615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99030954-99046111 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99034465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 248 (A248T)

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: A248T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: A248T

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (40/41)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Angptl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Angptl3	APN	4	99034840	missense	probably damaging	0.99
IGL01859:Angptl3	APN	4	99037432	nonsense	probably null
IGL02126:Angptl3	APN	4	99031501	critical splice donor site	probably null
IGL02134:Angptl3	APN	4	99031112	missense	probably damaging	1.00
IGL02573:Angptl3	APN	4	99037934	missense	probably damaging	1.00
IGL02756:Angptl3	APN	4	99031162	missense	probably damaging	1.00
IGL03369:Angptl3	APN	4	99034820	intron	probably benign
R0309:Angptl3	UTSW	4	99034469	missense	probably benign	0.32
R0549:Angptl3	UTSW	4	99031455	missense	probably benign	0.00
R0675:Angptl3	UTSW	4	99033262	missense	probably benign	0.02
R1465:Angptl3	UTSW	4	99037520	missense	probably benign	0.01
R1465:Angptl3	UTSW	4	99037520	missense	probably benign	0.01
R1738:Angptl3	UTSW	4	99033262	missense	probably benign	0.02
R2007:Angptl3	UTSW	4	99037397	missense	probably damaging	0.99
R2656:Angptl3	UTSW	4	99037964	missense	probably benign	0.01
R3436:Angptl3	UTSW	4	99033303	missense	probably benign	0.24
R3437:Angptl3	UTSW	4	99033303	missense	probably benign	0.24
R3616:Angptl3	UTSW	4	99034465	missense	probably benign	0.06
R4161:Angptl3	UTSW	4	99031491	missense	probably damaging	0.99
R4534:Angptl3	UTSW	4	99037995	missense	possibly damaging	0.73
R4615:Angptl3	UTSW	4	99031361	missense	probably benign	0.03
R4835:Angptl3	UTSW	4	99037412	missense	probably benign	0.36
R5308:Angptl3	UTSW	4	99034486	missense	probably benign	0.33
R5413:Angptl3	UTSW	4	99031022	missense	probably benign	0.12
R5668:Angptl3	UTSW	4	99032084	critical splice acceptor site	probably null
R5906:Angptl3	UTSW	4	99037567	missense	probably benign	0.07
R6520:Angptl3	UTSW	4	99037848	missense	probably benign	0.35
R6544:Angptl3	UTSW	4	99031438	missense	probably damaging	1.00
R6762:Angptl3	UTSW	4	99037417	missense	possibly damaging	0.91
R7889:Angptl3	UTSW	4	99031071	missense	probably benign	0.00
R8305:Angptl3	UTSW	4	99031311	missense	probably damaging	1.00
R8690:Angptl3	UTSW	4	99037522	missense	probably benign	0.00
R9284:Angptl3	UTSW	4	99031243	missense	probably benign	0.00
Z1088:Angptl3	UTSW	4	99034520	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCACTCTCACAAGATAGCGC -3'
(R):5'- CCCAGATTTGCGTGAATAACC -3'

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

Posted On

2015-02-19