Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Angptl3'

521093

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98919191-98926429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98926085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 405 (N405T)

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: N405T

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: N405T

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,285 (GRCm39)	D116G	possibly damaging	Het
Adam22	C	T	5: 8,166,635 (GRCm39)	V699M	probably damaging	Het
Adh7	A	G	3: 137,929,771 (GRCm39)	Y149C	probably damaging	Het
Adissp	G	T	2: 130,989,174 (GRCm39)	H111N	probably damaging	Het
Ank3	A	G	10: 69,824,217 (GRCm39)	H180R	probably damaging	Het
Apob	T	A	12: 8,033,124 (GRCm39)	I159N	probably damaging	Het
Arhgap24	T	C	5: 103,028,659 (GRCm39)	V185A	probably benign	Het
Atf6	A	T	1: 170,695,238 (GRCm39)	H11Q	probably benign	Het
Atxn3	C	A	12: 101,900,660 (GRCm39)	D208Y	probably damaging	Het
Brd9	G	A	13: 74,090,913 (GRCm39)	R273K	probably benign	Het
Cbfa2t3	T	A	8: 123,362,540 (GRCm39)	R302W	probably benign	Het
Ccdc175	C	A	12: 72,186,804 (GRCm39)	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,891,817 (GRCm39)	K770E	probably damaging	Het
Ccl17	T	C	8: 95,537,178 (GRCm39)	F27L	probably benign	Het
Cd3g	A	T	9: 44,882,613 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,809,082 (GRCm39)	V498A	probably benign	Het
Cfap45	A	G	1: 172,368,151 (GRCm39)	D381G	probably damaging	Het
Cfap46	A	G	7: 139,194,321 (GRCm39)		probably null	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Col23a1	T	C	11: 51,440,552 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,269,152 (GRCm39)	G933S	probably damaging	Het
Col5a3	C	T	9: 20,685,348 (GRCm39)	V1443I	unknown	Het
Col6a6	T	C	9: 105,663,024 (GRCm39)	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,851,759 (GRCm39)		probably null	Het
Dlk2	C	T	17: 46,613,438 (GRCm39)	T188I	probably damaging	Het
Dusp8	A	G	7: 141,637,418 (GRCm39)	I203T	probably damaging	Het
Eno2	C	T	6: 124,744,678 (GRCm39)	R56H	probably damaging	Het
Erich3	A	T	3: 154,469,102 (GRCm39)	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,255,906 (GRCm39)	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,776,701 (GRCm39)	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,175,814 (GRCm39)	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,236,641 (GRCm39)	D719N	probably damaging	Het
Fbn2	A	T	18: 58,235,462 (GRCm39)	S672T	probably damaging	Het
Gas8	C	G	8: 124,253,213 (GRCm39)	A187G	probably benign	Het
Gm2696	G	A	10: 77,672,332 (GRCm39)		probably benign	Het
Gnl1	A	T	17: 36,293,845 (GRCm39)	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466 (GRCm39)	K257Q	probably damaging	Het
Hgsnat	T	C	8: 26,443,328 (GRCm39)	Y474C	probably damaging	Het
Hoxc4	T	C	15: 102,943,380 (GRCm39)	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,496,218 (GRCm39)	L37Q	probably damaging	Het
Iqck	A	T	7: 118,540,854 (GRCm39)	K251M	probably damaging	Het
Itgal	A	T	7: 126,929,503 (GRCm39)	Q1140L	probably benign	Het
Itpka	A	G	2: 119,581,259 (GRCm39)	R431G	probably benign	Het
Jade1	A	G	3: 41,558,917 (GRCm39)	N333D	possibly damaging	Het
Jmjd7	A	G	2: 119,861,800 (GRCm39)	H181R	probably damaging	Het
Jmy	A	G	13: 93,590,547 (GRCm39)	S519P	probably benign	Het
Klra10	T	A	6: 130,252,755 (GRCm39)	H173L	probably benign	Het
Krt72	T	G	15: 101,689,481 (GRCm39)	I284L	probably benign	Het
Krt78	C	A	15: 101,860,206 (GRCm39)	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,314,451 (GRCm39)	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,555,855 (GRCm39)	M50R	probably damaging	Het
Mocos	T	A	18: 24,799,447 (GRCm39)	V227E	probably benign	Het
Mpeg1	A	G	19: 12,439,322 (GRCm39)	E260G	probably benign	Het
Mrc1	A	T	2: 14,312,760 (GRCm39)	N894I	probably damaging	Het
Mroh7	A	G	4: 106,578,460 (GRCm39)	S73P	probably benign	Het
Myo3a	A	T	2: 22,404,737 (GRCm39)	I690L	possibly damaging	Het
Naa50	T	G	16: 43,979,872 (GRCm39)	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,476,471 (GRCm39)	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,506,912 (GRCm39)	V396A	probably benign	Het
Nptn	A	G	9: 58,551,017 (GRCm39)	E348G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Or56b1b	A	G	7: 108,164,046 (GRCm39)	*319Q	probably null	Het
Or8d6	T	C	9: 39,853,658 (GRCm39)	I34T	possibly damaging	Het
Or8k36-ps1	A	G	2: 86,437,462 (GRCm39)	L151P	unknown	Het
Plekha7	A	G	7: 115,763,717 (GRCm39)	V233A	probably benign	Het
Polq	C	A	16: 36,880,739 (GRCm39)	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,961,516 (GRCm39)	T143M	probably damaging	Het
Ptprc	G	A	1: 138,007,881 (GRCm39)	Q886*	probably null	Het
Rbp7	C	A	4: 149,537,371 (GRCm39)	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,698,698 (GRCm39)	N1065I	probably benign	Het
Scamp5	A	T	9: 57,354,489 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,316,118 (GRCm39)	S1698P	probably damaging	Het
Spr	C	A	6: 85,114,474 (GRCm39)	R85L	probably benign	Het
Sptlc2	A	C	12: 87,402,436 (GRCm39)	N163K	probably benign	Het
Stk10	C	T	11: 32,538,839 (GRCm39)	T226M	probably damaging	Het
Sv2c	A	G	13: 96,123,229 (GRCm39)	Y415H	probably benign	Het
Tet1	A	G	10: 62,715,792 (GRCm39)	M1T	probably null	Het
Tnnt1	T	A	7: 4,512,060 (GRCm39)	K150*	probably null	Het
Trappc10	C	T	10: 78,037,287 (GRCm39)	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Upk2	T	C	9: 44,364,803 (GRCm39)	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,679,193 (GRCm39)	V677D	probably damaging	Het
Vps13a	A	T	19: 16,702,943 (GRCm39)	L670H	probably damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp512	G	A	5: 31,623,984 (GRCm39)	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,716,891 (GRCm39)	N360K	probably damaging	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
R0309:Angptl3	UTSW	4	98,922,706 (GRCm39)	missense	probably benign	0.32
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
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'- TACTGTCCAGAAAGTTACTCAGG -3'
(R):5'- TGTCTCAGTTCAGTTGAAGCTTC -3'

Sequencing Primer
(F):5'- GTCCAGAAAGTTACTCAGGTATCTC -3'
(R):5'- CTCAGTTCAGTTGAAGCTTCTTAGG -3'

Posted On

2018-06-06