Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Angptl3'

442423

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

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

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98919191-98926429 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 98920321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030280 (fasta)

Gene Model

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

AlphaFold

Q9R182

Predicted Effect

probably null
Transcript: ENSMUST00000030280

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553

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

0.9482

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dhx38	T	C	8: 110,280,048 (GRCm39)	D914G	probably damaging	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpatch8	T	C	11: 102,391,693 (GRCm39)	K143R	unknown	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mipol1	G	A	12: 57,372,346 (GRCm39)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or2k2	T	A	4: 58,785,489 (GRCm39)	I78F	probably benign	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,442,194 (GRCm39)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly 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
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'- CAGTTCAGGGTTTGCTTTGCTAAC -3'
(R):5'- AAGCAGATAGTTCCGTCAGCTG -3'

Sequencing Primer
(F):5'- TGTAACATTCAACTATCATGCTACTG -3'
(R):5'- CTGGTGCAGCAGTCTGACATAG -3'

Posted On

2016-11-09