Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Angptl3'

460614

Institutional Source

Beutler Lab

Gene Symbol

Angptl3

Ensembl Gene

ENSMUSG00000028553

Gene Name

angiopoietin-like 3

Synonyms

hypl

MMRRC Submission

044103-MU

Accession Numbers

Essential gene?

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

Stock #

R5906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98919191-98926429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98925804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 377 (T377A)

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: T377A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: T377A

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: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
9130023H24Rik	G	A	7: 127,835,664 (GRCm39)	P310S	probably benign	Het
Abcc10	G	T	17: 46,627,485 (GRCm39)	H652Q	probably benign	Het
Actl6b	A	G	5: 137,565,591 (GRCm39)	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,091,772 (GRCm39)		probably benign	Het
Adamts18	A	T	8: 114,436,251 (GRCm39)	H989Q	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankmy2	G	A	12: 36,226,632 (GRCm39)	V109M	probably damaging	Het
Anpep	G	A	7: 79,483,423 (GRCm39)	A689V	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cacna1d	C	T	14: 29,818,917 (GRCm39)	V1213I	probably damaging	Het
Capn1	A	G	19: 6,061,451 (GRCm39)	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,476,721 (GRCm39)	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,506,350 (GRCm39)	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 28,989,386 (GRCm39)	V281E	probably benign	Het
Chia1	A	T	3: 106,039,304 (GRCm39)	T465S	probably benign	Het
Cidec	A	T	6: 113,405,282 (GRCm39)		probably null	Het
Clcnkb	T	C	4: 141,139,610 (GRCm39)	T131A	probably benign	Het
Clec5a	T	A	6: 40,558,793 (GRCm39)	M98L	probably benign	Het
Cnga1	A	T	5: 72,768,201 (GRCm39)	F162I	probably benign	Het
Cyp27b1	A	T	10: 126,884,267 (GRCm39)	I40F	probably damaging	Het
Edrf1	A	G	7: 133,265,144 (GRCm39)	S1027G	probably benign	Het
Entpd1	C	A	19: 40,727,283 (GRCm39)	A448E	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Etfdh	T	C	3: 79,511,422 (GRCm39)	I520V	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gabra4	G	A	5: 71,781,253 (GRCm39)	P386L	probably benign	Het
Gckr	G	T	5: 31,463,922 (GRCm39)	V281L	probably damaging	Het
Gfy	T	C	7: 44,827,167 (GRCm39)	T310A	probably benign	Het
Gjc2	C	A	11: 59,067,667 (GRCm39)	V272L	probably benign	Het
Gm13441	G	C	2: 31,777,511 (GRCm39)		silent	Het
H2-DMb2	T	A	17: 34,367,582 (GRCm39)	M1K	probably null	Het
Hipk3	T	C	2: 104,302,153 (GRCm39)	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,784,536 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,788,413 (GRCm39)	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,271,359 (GRCm39)	D747G	probably benign	Het
Krt78	T	A	15: 101,857,030 (GRCm39)	E359V	probably damaging	Het
Mast4	T	C	13: 102,872,252 (GRCm39)	D2195G	probably benign	Het
Matk	C	T	10: 81,096,753 (GRCm39)	L188F	probably damaging	Het
Mcoln2	T	C	3: 145,889,496 (GRCm39)	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nap1l1	A	T	10: 111,326,891 (GRCm39)	K151*	probably null	Het
Ncbp3	T	A	11: 72,964,327 (GRCm39)	S426T	probably benign	Het
Nisch	T	A	14: 30,893,985 (GRCm39)		probably null	Het
Or4k15b	T	C	14: 50,272,306 (GRCm39)	T185A	probably benign	Het
Or5b113	T	C	19: 13,342,369 (GRCm39)	C126R	probably damaging	Het
Or8a1b	A	G	9: 37,623,101 (GRCm39)	I158T	probably benign	Het
Or8b8	A	G	9: 37,809,174 (GRCm39)	H158R	probably damaging	Het
Peg3	T	C	7: 6,720,854 (GRCm39)	D17G	probably damaging	Het
Pkd1	G	A	17: 24,791,894 (GRCm39)	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,756,387 (GRCm39)	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,625,045 (GRCm39)		probably null	Het
Pkp4	T	A	2: 59,135,420 (GRCm39)	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,769,522 (GRCm39)	R78C	probably damaging	Het
Pycr1	T	A	11: 120,532,988 (GRCm39)	I91F	probably damaging	Het
Rap1a	T	C	3: 105,645,081 (GRCm39)	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,960,627 (GRCm39)	Y181S	probably damaging	Het
Scart1	T	A	7: 139,808,712 (GRCm39)	D874E	probably damaging	Het
Sec16a	A	T	2: 26,328,843 (GRCm39)	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,619,107 (GRCm39)	E486K	probably benign	Het
Shank3	T	C	15: 89,433,119 (GRCm39)	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,848,102 (GRCm39)	I329K	probably benign	Het
Slit1	T	A	19: 41,594,813 (GRCm39)	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 106,867,018 (GRCm39)		probably benign	Het
Steap3	T	A	1: 120,171,731 (GRCm39)	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788 (GRCm38)		probably benign	Het
Tom1	T	C	8: 75,776,886 (GRCm39)	L69P	probably damaging	Het
Traf3ip3	T	A	1: 192,880,314 (GRCm39)	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,284,736 (GRCm39)	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,261,550 (GRCm39)	I183V	probably benign	Het
Wdr17	C	G	8: 55,092,503 (GRCm39)	V1094L	probably benign	Het
Wdr95	A	G	5: 149,487,692 (GRCm39)	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,793,717 (GRCm39)	D7G	probably benign	Het
Zfp512	A	T	5: 31,637,408 (GRCm39)	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,610,230 (GRCm39)	K498N	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
R5668:Angptl3	UTSW	4	98,920,321 (GRCm39)	critical splice acceptor site	probably null
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'- TCAGTCAGGTCCTGATCTGTAG -3'
(R):5'- GAGGAGAATGCTTGCTTGAGATTAG -3'

Sequencing Primer
(F):5'- TTGGGCCTAGAGAAGATCTATGC -3'
(R):5'- CTGAGTAACTTTCTGGACAG -3'

Posted On

2017-02-28