Incidental Mutation 'R3881:Angptl4'
ID 308794
Institutional Source Beutler Lab
Gene Symbol Angptl4
Ensembl Gene ENSMUSG00000002289
Gene Name angiopoietin-like 4
Synonyms HFARP, BK89, FIAF, NG27
MMRRC Submission 040795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3881 (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 33996008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 323 (P323S)
Ref Sequence ENSEMBL: ENSMUSP00000002360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002360] [ENSMUST00000173869]
AlphaFold Q9Z1P8
Predicted Effect possibly damaging
Transcript: ENSMUST00000002360
AA Change: P323S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: P323S

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 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 0.0948 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik T G 19: 4,548,417 (GRCm39) K44T possibly damaging Het
4933402N03Rik T C 7: 130,740,823 (GRCm39) E131G probably benign Het
Cep41 A G 6: 30,658,397 (GRCm39) S201P probably damaging Het
Cep95 A G 11: 106,697,118 (GRCm39) I257V probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cyfip2 A G 11: 46,099,162 (GRCm39) L716P probably damaging Het
Cyp2d34 T A 15: 82,502,818 (GRCm39) Q136L probably benign Het
Def6 T C 17: 28,439,189 (GRCm39) C267R probably damaging Het
Dgat2 G A 7: 98,818,950 (GRCm39) Q69* probably null Het
Dlgap1 T A 17: 71,093,810 (GRCm39) S710R probably damaging Het
Dnah10 T C 5: 124,850,095 (GRCm39) I1539T probably benign Het
Dnah2 T A 11: 69,342,173 (GRCm39) I2932F possibly damaging Het
Enpp2 A G 15: 54,783,088 (GRCm39) S76P probably damaging Het
Esr2 T C 12: 76,214,394 (GRCm39) D19G probably damaging Het
Fam13b A T 18: 34,595,112 (GRCm39) probably null Het
Fbxw14 A T 9: 109,100,262 (GRCm39) V464D possibly damaging Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Gm21961 A G 15: 64,886,716 (GRCm39) probably null Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Ints4 A G 7: 97,165,464 (GRCm39) T517A possibly damaging Het
Itpr3 A G 17: 27,332,814 (GRCm39) N1860S probably benign Het
Itsn2 G A 12: 4,684,546 (GRCm39) probably benign Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Letm2 C A 8: 26,083,884 (GRCm39) E116* probably null Het
Ly6c1 T C 15: 74,917,436 (GRCm39) T71A probably benign Het
Mcm3ap G A 10: 76,342,280 (GRCm39) S1591N probably benign Het
Mier2 C T 10: 79,384,584 (GRCm39) probably null Het
Mocs2 T A 13: 114,955,882 (GRCm39) L10* probably null Het
Myo6 A G 9: 80,171,538 (GRCm39) D513G probably damaging Het
Myoz2 T C 3: 122,807,369 (GRCm39) Y147C probably damaging Het
Nin C T 12: 70,089,315 (GRCm39) V1367M probably benign Het
Nr2f6 C T 8: 71,828,675 (GRCm39) A200T probably damaging Het
Obscn C T 11: 58,947,775 (GRCm39) C4418Y probably damaging Het
Or10ak9 A G 4: 118,726,550 (GRCm39) M191V probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or5g26 T A 2: 85,494,769 (GRCm39) H3L probably benign Het
Paxip1 C T 5: 27,953,837 (GRCm39) R953Q probably damaging Het
Pcdha1 A T 18: 37,064,454 (GRCm39) I373F possibly damaging Het
Pcdha7 G A 18: 37,108,432 (GRCm39) E486K probably benign Het
Recql5 G A 11: 115,784,780 (GRCm39) P849L probably benign Het
Recql5 G T 11: 115,784,781 (GRCm39) P849T probably benign Het
Rnf180 A T 13: 105,386,915 (GRCm39) M131K possibly damaging Het
Rplp1 A G 9: 61,821,704 (GRCm39) S3P probably benign Het
Rpp38 T A 2: 3,330,283 (GRCm39) R206S probably benign Het
Sdha G T 13: 74,487,311 (GRCm39) P159Q probably damaging Het
Shank2 T C 7: 143,959,121 (GRCm39) V199A probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Timm50 C A 7: 28,010,432 (GRCm39) A41S probably benign Het
Tmbim1 A G 1: 74,329,157 (GRCm39) probably benign Het
Tmprss11a C T 5: 86,593,664 (GRCm39) V29M possibly damaging Het
Ttc28 A T 5: 111,331,106 (GRCm39) H411L probably damaging Het
Ube4b A T 4: 149,449,861 (GRCm39) probably null Het
Zdhhc22 T A 12: 87,030,400 (GRCm39) M183L probably benign Het
Zfp106 A G 2: 120,362,630 (GRCm39) S830P 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
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
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'- TGTAGCTCTGTGCCAGAATG -3'
(R):5'- TGCACAGCATCACAGGGAAC -3'

Sequencing Primer
(F):5'- TTCAATGACTGGCCCATAGG -3'
(R):5'- ACCGAGGAAGCCAATTGG -3'
Posted On 2015-04-17