Incidental Mutation 'R4646:Angptl4'
ID 350296
Institutional Source Beutler Lab
Gene Symbol Angptl4
Ensembl Gene ENSMUSG00000002289
Gene Name angiopoietin-like 4
Synonyms HFARP, BK89, FIAF, NG27
MMRRC Submission 041907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4646 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33993874-34000549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34000273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 32 (P32S)
Ref Sequence ENSEMBL: ENSMUSP00000133417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002360] [ENSMUST00000173869]
AlphaFold Q9Z1P8
Predicted Effect probably benign
Transcript: ENSMUST00000002360
AA Change: P32S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: P32S

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
AA Change: P32S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133417
Gene: ENSMUSG00000002289
AA Change: P32S

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 101,904,515 (GRCm39) N132K possibly damaging Het
2010315B03Rik T A 9: 124,056,228 (GRCm39) Y232F probably benign Het
Acadl A T 1: 66,870,602 (GRCm39) S428R probably benign Het
Adamts10 A G 17: 33,764,529 (GRCm39) D683G probably damaging Het
Apob A G 12: 8,062,759 (GRCm39) N134S probably benign Het
Atr G A 9: 95,753,250 (GRCm39) probably null Het
B4galnt1 G A 10: 127,003,705 (GRCm39) V223M probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
C1galt1c1 A T X: 37,720,349 (GRCm39) S216T probably benign Het
C2cd3 A C 7: 100,021,657 (GRCm39) probably benign Het
Clca4b A C 3: 144,634,286 (GRCm39) H102Q probably benign Het
Cntrl T C 2: 35,039,473 (GRCm39) I557T probably damaging Het
Col26a1 G A 5: 136,876,404 (GRCm39) S72F probably damaging Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Csmd1 T C 8: 15,982,511 (GRCm39) I2719V possibly damaging Het
Cul9 C T 17: 46,849,943 (GRCm39) W502* probably null Het
Dazl A T 17: 50,595,183 (GRCm39) F84I probably damaging Het
Dcaf1 G T 9: 106,724,006 (GRCm39) R478L probably benign Het
Dock5 T G 14: 68,080,228 (GRCm39) I198L probably benign Het
Dock9 A T 14: 121,823,658 (GRCm39) L1428H probably damaging Het
Dync1li1 T A 9: 114,538,237 (GRCm39) V198E probably damaging Het
Egf A T 3: 129,513,925 (GRCm39) C429S probably damaging Het
Ehmt1 T C 2: 24,781,696 (GRCm39) E7G probably null Het
Ercc4 G T 16: 12,965,438 (GRCm39) R690L probably damaging Het
Erich5 T C 15: 34,471,112 (GRCm39) C114R possibly damaging Het
Etv1 T C 12: 38,915,685 (GRCm39) S428P possibly damaging Het
Fbxo31 G T 8: 122,286,755 (GRCm39) F174L probably benign Het
Fbxo33 T A 12: 59,251,217 (GRCm39) I433L probably benign Het
Fez2 A T 17: 78,720,357 (GRCm39) V99E probably damaging Het
Gabarapl2 A C 8: 112,669,185 (GRCm39) K48Q probably damaging Het
Gfi1b T A 2: 28,500,149 (GRCm39) H294L probably damaging Het
Gk2 A G 5: 97,604,056 (GRCm39) S261P probably damaging Het
Gpr158 T C 2: 21,831,864 (GRCm39) I988T probably benign Het
Grk3 G C 5: 113,077,586 (GRCm39) H394D probably benign Het
Grm6 A G 11: 50,748,033 (GRCm39) E381G probably benign Het
Gtf3c1 A T 7: 125,258,266 (GRCm39) M1268K possibly damaging Het
Hikeshi A T 7: 89,572,854 (GRCm39) I113N probably damaging Het
Hmg20b T A 10: 81,184,416 (GRCm39) Q129L probably damaging Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Ints15 A T 5: 143,293,740 (GRCm39) W246R probably damaging Het
Kdm5a T G 6: 120,351,938 (GRCm39) V176G possibly damaging Het
Kif2a T A 13: 107,098,693 (GRCm39) E691V probably damaging Het
Ly6e T C 15: 74,830,510 (GRCm39) probably null Het
Map1b G T 13: 99,568,977 (GRCm39) P1248Q unknown Het
Mettl25 A G 10: 105,662,416 (GRCm39) S185P probably damaging Het
Mfap3l T A 8: 61,124,184 (GRCm39) V142D probably damaging Het
Mip T A 10: 128,062,922 (GRCm39) H122Q probably benign Het
Mkx G A 18: 6,992,040 (GRCm39) T280I probably benign Het
Msi1 A T 5: 115,589,514 (GRCm39) probably null Het
Mtcl2 T C 2: 156,862,426 (GRCm39) E1501G probably damaging Het
Muc5b A G 7: 141,416,377 (GRCm39) M3108V probably benign Het
Mybl1 A G 1: 9,742,511 (GRCm39) S625P probably damaging Het
Myo7b C A 18: 32,127,422 (GRCm39) V627F probably benign Het
Ndst3 A T 3: 123,465,684 (GRCm39) I96N probably damaging Het
Nrp1 A T 8: 129,184,425 (GRCm39) T357S probably benign Het
Obscn G T 11: 59,015,396 (GRCm39) Y1050* probably null Het
Or2ak7 A G 11: 58,575,556 (GRCm39) N286D probably damaging Het
Or2d4 A T 7: 106,543,547 (GRCm39) N220K probably benign Het
Or2y1c A C 11: 49,361,451 (GRCm39) I158L probably benign Het
Or4c107 T A 2: 88,789,556 (GRCm39) F249I probably damaging Het
Or5d47 A T 2: 87,804,142 (GRCm39) I289K probably benign Het
Or5i1 T C 2: 87,613,565 (GRCm39) V227A possibly damaging Het
Otof T C 5: 30,540,914 (GRCm39) E875G possibly damaging Het
Pick1 A T 15: 79,133,137 (GRCm39) D399V probably benign Het
Pik3c2g T A 6: 139,665,744 (GRCm39) S22T probably benign Het
Pnpla2 A G 7: 141,038,574 (GRCm39) E276G possibly damaging Het
Pomk A T 8: 26,473,633 (GRCm39) S107T probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rimbp3 A G 16: 17,030,962 (GRCm39) D1462G probably damaging Het
Rnf112 T A 11: 61,342,936 (GRCm39) E230V probably damaging Het
Rock1 T C 18: 10,112,391 (GRCm39) T455A probably benign Het
Rtp4 A T 16: 23,428,790 (GRCm39) M18L probably benign Het
Scaf11 A T 15: 96,317,981 (GRCm39) probably null Het
Schip1 T C 3: 67,972,297 (GRCm39) V8A probably benign Het
Sec31b T C 19: 44,515,060 (GRCm39) H351R probably benign Het
Sh3bp5l A G 11: 58,237,177 (GRCm39) D378G probably benign Het
Sowahb T C 5: 93,190,715 (GRCm39) D668G probably damaging Het
Spam1 A G 6: 24,800,586 (GRCm39) T442A probably benign Het
Syt14 T A 1: 192,615,633 (GRCm39) Y451F probably damaging Het
Tafa5 T G 15: 87,604,783 (GRCm39) S115A probably damaging Het
Tdh A G 14: 63,731,205 (GRCm39) L323P possibly damaging Het
Tet2 A T 3: 133,193,843 (GRCm39) M197K probably benign Het
Thbs1 G A 2: 117,948,810 (GRCm39) A489T probably benign Het
Tnfaip1 C T 11: 78,420,008 (GRCm39) R88Q probably damaging Het
Tnn T C 1: 159,973,612 (GRCm39) M252V probably benign Het
Trdn G T 10: 33,071,977 (GRCm39) E215* probably null Het
Trim55 T C 3: 19,725,286 (GRCm39) F268L probably benign Het
Trmt112 T A 19: 6,887,816 (GRCm39) V55E possibly damaging Het
Tube1 A G 10: 39,018,363 (GRCm39) M147V possibly damaging Het
Ubn1 A G 16: 4,895,851 (GRCm39) T966A probably damaging Het
Unc80 A G 1: 66,708,394 (GRCm39) I2651V probably benign Het
Vmn1r172 G A 7: 23,359,919 (GRCm39) R268H probably benign Het
Vmn1r231 T A 17: 21,110,571 (GRCm39) I115F probably damaging Het
Vmn1r237 A G 17: 21,534,400 (GRCm39) K41R probably benign Het
Vmn2r58 A T 7: 41,509,935 (GRCm39) N547K probably damaging Het
Vmn2r74 T C 7: 85,606,782 (GRCm39) D188G probably benign Het
Vwa5b2 A G 16: 20,415,079 (GRCm39) K367R probably damaging Het
Washc4 T A 10: 83,410,407 (GRCm39) M665K possibly damaging Het
Wbp11 T A 6: 136,798,189 (GRCm39) Y236F probably benign Het
Wbp4 T A 14: 79,709,801 (GRCm39) I145F possibly damaging Het
Wwc2 C A 8: 48,373,636 (GRCm39) D77Y probably damaging Het
Zpld2 G A 4: 133,929,459 (GRCm39) A282V 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
R4660:Angptl4 UTSW 17 33,996,249 (GRCm39) intron probably benign
R6192:Angptl4 UTSW 17 33,996,015 (GRCm39) missense probably benign 0.09
R6591:Angptl4 UTSW 17 33,999,755 (GRCm39) critical splice donor site probably null
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'- TATCCTCGGAGTCTTTGAAGGG -3'
(R):5'- TCTGCACCAGAGCAAGTCTAAG -3'

Sequencing Primer
(F):5'- TGAAGGGTGCATCTTTTCCC -3'
(R):5'- AAGTCTAAGTCTGAGCCGGCTC -3'
Posted On 2015-10-08