Incidental Mutation 'R1309:Angptl2'
ID 157870
Institutional Source Beutler Lab
Gene Symbol Angptl2
Ensembl Gene ENSMUSG00000004105
Gene Name angiopoietin-like 2
Synonyms Arp2
MMRRC Submission 039375-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R1309 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 33106081-33137729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33136140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 442 (A442T)
Ref Sequence ENSEMBL: ENSMUSP00000004208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004208] [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298] [ENSMUST00000193373]
AlphaFold Q9R045
Predicted Effect probably benign
Transcript: ENSMUST00000004208
AA Change: A442T

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: A442T

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.9%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankar T C 1: 72,713,163 (GRCm39) I709V possibly damaging Het
Asb2 A G 12: 103,291,667 (GRCm39) V372A probably benign Het
Ccm2l A T 2: 152,912,844 (GRCm39) I129F probably damaging Het
Cdkal1 T A 13: 29,541,566 (GRCm39) I433F possibly damaging Het
Cpsf7 T C 19: 10,510,831 (GRCm39) probably null Het
Dhx37 C T 5: 125,494,502 (GRCm39) W944* probably null Het
Dip2a A G 10: 76,115,610 (GRCm39) L939P probably damaging Het
Kera A G 10: 97,445,288 (GRCm39) T216A possibly damaging Het
Lmnb1 CAGAGAGAGAGAGA CAGAGAGAGAGA 18: 56,872,976 (GRCm39) probably null Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Prep A G 10: 45,002,122 (GRCm39) T426A probably benign Het
Rxfp1 C T 3: 79,570,599 (GRCm39) probably null Het
Spag6 A G 2: 18,739,027 (GRCm39) Y319C probably damaging Het
Stk24 A G 14: 121,540,198 (GRCm39) Y134H probably damaging Het
Tdrd6 T C 17: 43,937,512 (GRCm39) I1179V probably benign Het
Tedc1 A G 12: 113,125,400 (GRCm39) E274G probably benign Het
Zswim2 A T 2: 83,769,100 (GRCm39) F87Y probably damaging Het
Other mutations in Angptl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Angptl2 APN 2 33,118,406 (GRCm39) missense probably damaging 1.00
IGL00585:Angptl2 APN 2 33,136,239 (GRCm39) missense probably damaging 0.98
IGL00900:Angptl2 APN 2 33,133,784 (GRCm39) missense probably benign 0.00
IGL01521:Angptl2 APN 2 33,136,215 (GRCm39) missense probably damaging 1.00
IGL02711:Angptl2 APN 2 33,118,255 (GRCm39) missense probably benign 0.00
IGL02826:Angptl2 APN 2 33,118,327 (GRCm39) missense probably benign 0.19
Bloodhound UTSW 2 33,118,342 (GRCm39) missense probably benign
Grazie UTSW 2 33,133,922 (GRCm39) nonsense probably null
Huntress UTSW 2 33,118,814 (GRCm39) missense probably benign 0.02
R1541:Angptl2 UTSW 2 33,136,177 (GRCm39) missense probably benign 0.26
R1542:Angptl2 UTSW 2 33,118,897 (GRCm39) missense probably benign 0.24
R1604:Angptl2 UTSW 2 33,133,785 (GRCm39) missense possibly damaging 0.89
R3432:Angptl2 UTSW 2 33,118,814 (GRCm39) missense probably benign 0.02
R4331:Angptl2 UTSW 2 33,118,760 (GRCm39) missense probably damaging 0.99
R4652:Angptl2 UTSW 2 33,133,895 (GRCm39) missense probably damaging 1.00
R4741:Angptl2 UTSW 2 33,136,200 (GRCm39) missense probably benign 0.12
R5107:Angptl2 UTSW 2 33,118,615 (GRCm39) missense probably damaging 0.98
R5504:Angptl2 UTSW 2 33,119,050 (GRCm39) intron probably benign
R5694:Angptl2 UTSW 2 33,118,628 (GRCm39) missense probably damaging 1.00
R5967:Angptl2 UTSW 2 33,118,718 (GRCm39) missense probably damaging 1.00
R6185:Angptl2 UTSW 2 33,119,026 (GRCm39) missense probably benign 0.00
R6797:Angptl2 UTSW 2 33,118,277 (GRCm39) missense probably benign 0.00
R7151:Angptl2 UTSW 2 33,133,922 (GRCm39) nonsense probably null
R7471:Angptl2 UTSW 2 33,133,751 (GRCm39) missense possibly damaging 0.89
R7742:Angptl2 UTSW 2 33,133,928 (GRCm39) missense probably damaging 1.00
R7763:Angptl2 UTSW 2 33,132,394 (GRCm39) nonsense probably null
R8719:Angptl2 UTSW 2 33,133,914 (GRCm39) missense possibly damaging 0.74
R8927:Angptl2 UTSW 2 33,132,316 (GRCm39) missense probably benign 0.35
R8928:Angptl2 UTSW 2 33,132,316 (GRCm39) missense probably benign 0.35
R9204:Angptl2 UTSW 2 33,118,342 (GRCm39) missense probably benign
R9663:Angptl2 UTSW 2 33,118,231 (GRCm39) missense probably benign 0.02
R9775:Angptl2 UTSW 2 33,118,230 (GRCm39) start codon destroyed probably null 0.00
Predicted Primers PCR Primer
(F):5'- AGGCCACTTCCATTTTCACCTGAG -3'
(R):5'- TGACAGAGCCACATTGGAAAGCAC -3'

Sequencing Primer
(F):5'- gctgcctatctgtaatctaccatc -3'
(R):5'- TTGGAAAGCACAGTCCTCC -3'
Posted On 2014-02-18