Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Angptl3'

222469

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99030954-99046111 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99037397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 320 (I320T)

Ref Sequence

ENSEMBL: ENSMUSP00000030280 (fasta)

Gene Model

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

AlphaFold

Q9R182

Predicted Effect

probably damaging
Transcript: ENSMUST00000030280
AA Change: I320T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: I320T

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

0.4610

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,542,892	N1387K	probably benign	Het
Abca13	T	C	11: 9,191,987	F8L	probably benign	Het
Abcg5	G	T	17: 84,669,920	L270M	probably damaging	Het
Acad10	A	G	5: 121,634,751	L489S	probably damaging	Het
Acsf2	G	A	11: 94,571,640	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,177,856	E282V	probably damaging	Het
Adcy4	C	T	14: 55,778,313	G440R	possibly damaging	Het
AI429214	G	A	8: 36,993,769	V24I	probably benign	Het
Apoa5	A	T	9: 46,270,367	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,609,305	V811G	probably damaging	Het
Bard1	C	T	1: 71,031,403	V641I	probably benign	Het
Calb2	T	C	8: 110,168,070	E23G	probably benign	Het
Cdkl4	A	G	17: 80,556,301		probably benign	Het
Cep85l	A	G	10: 53,278,075		probably benign	Het
Chd1	G	T	17: 15,731,006	G281V	probably damaging	Het
Col17a1	C	T	19: 47,667,702	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833	D66V	probably damaging	Het
Csde1	A	T	3: 103,044,791	I204L	probably damaging	Het
Dchs1	A	T	7: 105,755,325	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,213,278	V428A	probably benign	Het
Dgkh	T	A	14: 78,603,049	D530V	probably benign	Het
Dis3l	A	T	9: 64,308,276		probably null	Het
Dst	T	G	1: 34,226,012		probably benign	Het
Eml6	C	T	11: 29,848,814		probably null	Het
En1	A	T	1: 120,603,404	E124D	probably benign	Het
Exo1	G	A	1: 175,908,530	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,778,748		probably benign	Het
Foxp2	G	A	6: 15,396,819	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,697,166	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,212,618	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,500,831	I155T	unknown	Het
Hmcn2	A	G	2: 31,438,255	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,319,513		probably benign	Het
Hpx	G	A	7: 105,595,574	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,520,548	E151A	probably benign	Het
Krt6b	A	T	15: 101,678,127	L309H	probably damaging	Het
Lce1c	G	T	3: 92,680,458	C64F	unknown	Het
Maats1	T	C	16: 38,298,254	I728V	probably benign	Het
March6	C	T	15: 31,461,941		probably null	Het
Myt1	C	A	2: 181,795,759	R88S	probably benign	Het
Nemp1	A	G	10: 127,693,577	S194G	probably benign	Het
Nphp4	A	G	4: 152,554,654	K914R	probably damaging	Het
Olfr410	T	A	11: 74,334,386	T282S	possibly damaging	Het
Osbp	T	C	19: 11,973,901	M270T	probably benign	Het
Parg	T	C	14: 32,210,574	M457T	possibly damaging	Het
Phf20	T	C	2: 156,287,954	M482T	probably benign	Het
Pik3c2a	G	A	7: 116,342,237	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,579,785	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,967,255	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,320,236	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,993,540	T65S	probably benign	Het
Sipa1l2	G	A	8: 125,439,437	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,227,048	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,928,629	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,571,374	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,350,123	F301S	probably damaging	Het
Tmem233	A	C	5: 116,051,437	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,332,545	D193G	probably damaging	Het
Tprkb	T	C	6: 85,933,048		probably benign	Het
Tram1l1	A	G	3: 124,321,839	H216R	possibly damaging	Het
Ttn	A	G	2: 76,734,140	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,409,251	N25S	possibly damaging	Het
Unc80	C	A	1: 66,503,776	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,632,587	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,347,953	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,586,644	I995V	probably null	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
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
R3615:Angptl3	UTSW	4	99034465	missense	probably benign	0.06
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'- AGTATTAGCATTGCAAGCACAC -3'
(R):5'- ACATCAGGTCTGTGTGCTCTG -3'

Sequencing Primer
(F):5'- CTTGTAATCACAGCACTTCGGTAGG -3'
(R):5'- TGTGCTCTGGGAGGGCC -3'

Posted On

2014-08-25