Incidental Mutation 'R3437:Angptl3'
ID 267225
Institutional Source Beutler Lab
Gene Symbol Angptl3
Ensembl Gene ENSMUSG00000028553
Gene Name angiopoietin-like 3
Synonyms hypl
MMRRC Submission 040655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R3437 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 98919191-98926429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98921540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 219 (K219N)
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: K219N

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: K219N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,616,253 (GRCm39) L127R probably null Het
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Amy1 G A 3: 113,349,658 (GRCm39) A504V probably damaging Het
Atp6v1g1 A G 4: 63,468,255 (GRCm39) N86S probably benign Het
Avl9 T C 6: 56,713,612 (GRCm39) V290A probably benign Het
Bad A G 19: 6,919,799 (GRCm39) R37G probably benign Het
Bicra T C 7: 15,723,223 (GRCm39) D98G possibly damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Col4a4 G A 1: 82,474,889 (GRCm39) T650M unknown Het
Cyp11b2 T C 15: 74,727,298 (GRCm39) R128G probably benign Het
Dst T C 1: 34,229,303 (GRCm39) S1974P probably damaging Het
Fabp1 T C 6: 71,178,595 (GRCm39) L24P probably benign Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Gmnc G T 16: 26,779,217 (GRCm39) H221Q probably benign Het
Homer1 T C 13: 93,502,929 (GRCm39) probably benign Het
Kit A G 5: 75,806,565 (GRCm39) D690G probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mc3r C T 2: 172,091,588 (GRCm39) T270I probably benign Het
Mrgpra3 A C 7: 47,239,314 (GRCm39) L204W probably damaging Het
Mroh1 C T 15: 76,317,808 (GRCm39) T839I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
Or5af1 A T 11: 58,722,150 (GRCm39) M57L probably damaging Het
P4ha3 C T 7: 99,934,831 (GRCm39) A31V possibly damaging Het
Plch2 A G 4: 155,075,470 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Pter T A 2: 13,005,805 (GRCm39) L326H probably benign Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slc8a2 T G 7: 15,892,810 (GRCm39) V824G probably damaging Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Tro G A X: 149,429,252 (GRCm39) probably benign Het
Uspl1 T A 5: 149,151,507 (GRCm39) probably benign Het
Uty A G Y: 1,158,336 (GRCm39) I522T probably benign Het
Vmn1r120 A C 7: 20,787,582 (GRCm39) L43W probably damaging Het
Vmn2r16 A T 5: 109,478,362 (GRCm39) D39V probably damaging Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnt16 T C 6: 22,298,133 (GRCm39) V333A probably damaging Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfy1 A T Y: 726,357 (GRCm39) D469E possibly damaging Het
Other mutations in Angptl3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGTCTCAAGAACAGAATGTCAGTC -3'
(R):5'- AACATTTGGTGATGGCATTTGC -3'

Sequencing Primer
(F):5'- TTGCTTGCTCGCAGAACG -3'
(R):5'- GAGAAAACTGCCCGGATT -3'
Posted On 2015-02-18