Incidental Mutation 'IGL00900:Angptl2'
ID26826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angptl2
Ensembl Gene ENSMUSG00000004105
Gene Nameangiopoietin-like 2
SynonymsArp2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.420) question?
Stock #IGL00900
Quality Score
Status
Chromosome2
Chromosomal Location33216069-33247717 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33243772 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 369 (M369L)
Ref Sequence ENSEMBL: ENSMUSP00000004208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004208] [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298] [ENSMUST00000193373]
Predicted Effect probably benign
Transcript: ENSMUST00000004208
AA Change: M369L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: M369L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 77 113 N/A INTRINSIC
coiled coil region 152 180 N/A INTRINSIC
low complexity region 205 228 N/A INTRINSIC
FBG 273 488 3.62e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042615
SMART Domains Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 273 4.59e-86 SMART
low complexity region 286 301 N/A INTRINSIC
PH 372 485 1.87e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091039
SMART Domains Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 460 573 1.87e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113165
SMART Domains Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 459 572 1.87e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131298
SMART Domains Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
PH 390 503 1.87e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143252
Predicted Effect probably benign
Transcript: ENSMUST00000193373
SMART Domains Protein: ENSMUSP00000142084
Gene: ENSMUSG00000004105

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Fibrinogen_C 49 112 4.2e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Angptl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Angptl2 APN 2 33228394 missense probably damaging 1.00
IGL00585:Angptl2 APN 2 33246227 missense probably damaging 0.98
IGL01521:Angptl2 APN 2 33246203 missense probably damaging 1.00
IGL02711:Angptl2 APN 2 33228243 missense probably benign 0.00
IGL02826:Angptl2 APN 2 33228315 missense probably benign 0.19
R1309:Angptl2 UTSW 2 33246128 missense probably benign 0.38
R1541:Angptl2 UTSW 2 33246165 missense probably benign 0.26
R1542:Angptl2 UTSW 2 33228885 missense probably benign 0.24
R1604:Angptl2 UTSW 2 33243773 missense possibly damaging 0.89
R3432:Angptl2 UTSW 2 33228802 missense probably benign 0.02
R4331:Angptl2 UTSW 2 33228748 missense probably damaging 0.99
R4652:Angptl2 UTSW 2 33243883 missense probably damaging 1.00
R4741:Angptl2 UTSW 2 33246188 missense probably benign 0.12
R5107:Angptl2 UTSW 2 33228603 missense probably damaging 0.98
R5504:Angptl2 UTSW 2 33229038 intron probably benign
R5694:Angptl2 UTSW 2 33228616 missense probably damaging 1.00
R5967:Angptl2 UTSW 2 33228706 missense probably damaging 1.00
R6185:Angptl2 UTSW 2 33229014 missense probably benign 0.00
R6797:Angptl2 UTSW 2 33228265 missense probably benign 0.00
R7151:Angptl2 UTSW 2 33243910 nonsense probably null
R7471:Angptl2 UTSW 2 33243739 missense possibly damaging 0.89
R7742:Angptl2 UTSW 2 33243916 missense probably damaging 1.00
R7763:Angptl2 UTSW 2 33242382 nonsense probably null
Posted On2013-04-17