Incidental Mutation 'R6591:Angptl4'
ID 524606
Institutional Source Beutler Lab
Gene Symbol Angptl4
Ensembl Gene ENSMUSG00000002289
Gene Name angiopoietin-like 4
Synonyms HFARP, BK89, FIAF, NG27
MMRRC Submission 044715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6591 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 33993874-34000549 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 33999755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002360] [ENSMUST00000173869]
AlphaFold Q9Z1P8
Predicted Effect probably null
Transcript: ENSMUST00000002360
SMART Domains Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
coiled coil region 104 151 N/A INTRINSIC
FBG 187 404 6.6e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173637
Predicted Effect probably benign
Transcript: ENSMUST00000173869
SMART Domains Protein: ENSMUSP00000133417
Gene: ENSMUSG00000002289

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
coiled coil region 104 147 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174872
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display decreased levels of triglycerides and cholesterol and a lower increase in body fat after exposure to gut microbiota. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik A G 9: 63,306,236 (GRCm39) Y90H probably damaging Het
Agk A G 6: 40,369,624 (GRCm39) D337G probably benign Het
Amn A G 12: 111,241,831 (GRCm39) H299R possibly damaging Het
AU040320 G A 4: 126,730,463 (GRCm39) M563I possibly damaging Het
Cachd1 T C 4: 100,846,683 (GRCm39) M1042T probably benign Het
Cd209c T A 8: 3,995,680 (GRCm39) I41L probably benign Het
Ceacam12 T A 7: 17,803,149 (GRCm39) V185D possibly damaging Het
Chpt1 A T 10: 88,321,762 (GRCm39) probably benign Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Cldn8 T C 16: 88,359,423 (GRCm39) I167M possibly damaging Het
Cln3 A G 7: 126,178,606 (GRCm39) V143A possibly damaging Het
Dusp11 T C 6: 85,938,507 (GRCm39) H4R possibly damaging Het
Ephb3 T A 16: 21,033,223 (GRCm39) F69Y probably damaging Het
Gm11099 A T 2: 58,749,485 (GRCm39) probably benign Het
Grik2 A T 10: 49,149,021 (GRCm39) Y521* probably null Het
Igf2r A G 17: 12,907,895 (GRCm39) L2143P probably damaging Het
Kcnk1 T C 8: 126,751,970 (GRCm39) V192A probably benign Het
Or4a81 A T 2: 89,619,332 (GRCm39) Y121* probably null Het
Or8k53 A C 2: 86,177,763 (GRCm39) S116A probably damaging Het
Parp3 A G 9: 106,350,891 (GRCm39) S329P probably benign Het
Pld3 A T 7: 27,231,741 (GRCm39) N483K probably benign Het
Rbm33 A T 5: 28,557,544 (GRCm39) E252D probably damaging Het
Ryr2 T C 13: 11,609,609 (GRCm39) T4406A probably benign Het
Sgsm3 A G 15: 80,893,063 (GRCm39) D380G possibly damaging Het
Sorl1 G T 9: 41,913,863 (GRCm39) D1355E probably damaging Het
Sptbn1 A G 11: 30,063,984 (GRCm39) S1945P probably damaging Het
Ube2m A T 7: 12,770,396 (GRCm39) F70I probably damaging Het
Ube3b A G 5: 114,546,185 (GRCm39) I664V probably benign Het
Ugt1a7c A G 1: 88,023,378 (GRCm39) E179G possibly damaging Het
Vps50 T C 6: 3,504,939 (GRCm39) probably null Het
Xpo1 T C 11: 23,236,875 (GRCm39) L718P probably damaging Het
Zfp354c A G 11: 50,705,602 (GRCm39) I491T probably benign Het
Other mutations in Angptl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Angptl4 APN 17 34,000,242 (GRCm39) missense probably damaging 1.00
R0117:Angptl4 UTSW 17 33,999,776 (GRCm39) missense probably damaging 1.00
R1225:Angptl4 UTSW 17 34,000,165 (GRCm39) missense possibly damaging 0.73
R1491:Angptl4 UTSW 17 34,000,165 (GRCm39) missense possibly damaging 0.73
R1932:Angptl4 UTSW 17 34,000,249 (GRCm39) nonsense probably null
R2055:Angptl4 UTSW 17 33,999,498 (GRCm39) splice site probably null
R2212:Angptl4 UTSW 17 33,994,392 (GRCm39) missense probably damaging 0.99
R2959:Angptl4 UTSW 17 33,996,008 (GRCm39) missense possibly damaging 0.54
R2963:Angptl4 UTSW 17 33,996,008 (GRCm39) missense possibly damaging 0.54
R3877:Angptl4 UTSW 17 33,996,008 (GRCm39) missense possibly damaging 0.54
R3881:Angptl4 UTSW 17 33,996,008 (GRCm39) missense possibly damaging 0.54
R3882:Angptl4 UTSW 17 33,996,008 (GRCm39) missense possibly damaging 0.54
R4646:Angptl4 UTSW 17 34,000,273 (GRCm39) missense probably benign 0.00
R4660:Angptl4 UTSW 17 33,996,249 (GRCm39) intron probably benign
R6192:Angptl4 UTSW 17 33,996,015 (GRCm39) missense probably benign 0.09
R6691:Angptl4 UTSW 17 33,999,755 (GRCm39) critical splice donor site probably null
R7350:Angptl4 UTSW 17 33,996,084 (GRCm39) missense probably damaging 1.00
R9110:Angptl4 UTSW 17 33,999,800 (GRCm39) missense probably benign 0.00
R9192:Angptl4 UTSW 17 34,000,285 (GRCm39) missense probably benign 0.04
R9388:Angptl4 UTSW 17 33,996,158 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGCCTCTTTCCCCTCGAAG -3'
(R):5'- CCTCAGAGCAGACTGTGAAAG -3'

Sequencing Primer
(F):5'- AAGTCTTGTCTACTCCATTGTCTAGG -3'
(R):5'- CTCAGAGCAGACTGTGAAAGGGTAG -3'
Posted On 2018-06-22