Incidental Mutation 'R7151:Angptl2'
ID 554106
Institutional Source Beutler Lab
Gene Symbol Angptl2
Ensembl Gene ENSMUSG00000004105
Gene Name angiopoietin-like 2
Synonyms Arp2
MMRRC Submission 045253-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R7151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 33106081-33137729 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 33133922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 415 (Q415*)
Ref Sequence ENSEMBL: ENSMUSP00000004208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004208] [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298] [ENSMUST00000193373]
AlphaFold Q9R045
Predicted Effect probably null
Transcript: ENSMUST00000004208
AA Change: Q415*
SMART Domains Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: Q415*

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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T A 2: 32,630,618 (GRCm39) Q52L unknown Het
Acsl1 A G 8: 46,966,634 (GRCm39) D202G probably damaging Het
Adam3 A T 8: 25,185,271 (GRCm39) C476S probably damaging Het
Adam34 T A 8: 44,104,499 (GRCm39) E382V probably benign Het
Akap5 G A 12: 76,375,023 (GRCm39) V152I probably benign Het
Aldh5a1 C T 13: 25,121,382 (GRCm39) W57* probably null Het
Bnc1 G T 7: 81,623,055 (GRCm39) T724N possibly damaging Het
Brca2 T C 5: 150,464,901 (GRCm39) V1555A probably benign Het
Btn1a1 T A 13: 23,643,483 (GRCm39) D322V probably damaging Het
Chsy3 T A 18: 59,542,357 (GRCm39) D498E possibly damaging Het
Ddx24 T C 12: 103,390,347 (GRCm39) T215A probably benign Het
Dhx57 A T 17: 80,580,476 (GRCm39) V492E probably damaging Het
Dnhd1 G A 7: 105,359,234 (GRCm39) R3523Q probably benign Het
Dock3 T A 9: 106,841,916 (GRCm39) D971V possibly damaging Het
Ercc8 T C 13: 108,323,816 (GRCm39) probably null Het
Erich5 T A 15: 34,471,095 (GRCm39) L108Q probably damaging Het
F5 A T 1: 164,029,230 (GRCm39) Y1743F probably damaging Het
Gale T C 4: 135,694,503 (GRCm39) V243A probably damaging Het
Gspt1 T A 16: 11,071,692 (GRCm39) Q57L probably benign Het
Gtf3a C A 5: 146,888,085 (GRCm39) Q129K probably benign Het
Heyl T C 4: 123,140,254 (GRCm39) V271A probably benign Het
Hsd17b4 T C 18: 50,261,437 (GRCm39) F7L probably damaging Het
Hspa12a T C 19: 58,810,594 (GRCm39) T150A probably benign Het
Ift140 T A 17: 25,274,699 (GRCm39) D790E probably damaging Het
Igkv4-69 T A 6: 69,260,917 (GRCm39) Y70F probably damaging Het
Il1rap T C 16: 26,530,878 (GRCm39) Y405H probably damaging Het
Insyn2a A C 7: 134,520,374 (GRCm39) I52S probably damaging Het
Irf2bpl G T 12: 86,930,127 (GRCm39) P182Q probably benign Het
Itm2b C A 14: 73,605,829 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,414 (GRCm39) V106A possibly damaging Het
Krt87 C A 15: 101,387,529 (GRCm39) D170Y probably damaging Het
Lca5 T A 9: 83,280,693 (GRCm39) Y369F probably benign Het
Mgat5 T A 1: 127,373,999 (GRCm39) D466E probably damaging Het
Mier3 C T 13: 111,851,302 (GRCm39) P428L probably benign Het
Myo6 T C 9: 80,152,418 (GRCm39) Y167H unknown Het
Neu2 A G 1: 87,524,297 (GRCm39) E94G probably benign Het
Nlrp9a A T 7: 26,256,672 (GRCm39) K97* probably null Het
Npdc1 A G 2: 25,299,120 (GRCm39) M306V probably damaging Het
Odf2l A T 3: 144,832,827 (GRCm39) N95I probably benign Het
Or10j3 A G 1: 173,031,633 (GRCm39) K237E probably damaging Het
Or13d1 G T 4: 52,970,665 (GRCm39) V15L probably benign Het
Or5t16 A G 2: 86,819,385 (GRCm39) V45A probably benign Het
Or7g21 A G 9: 19,033,037 (GRCm39) Y259C possibly damaging Het
P2ry12 A G 3: 59,125,127 (GRCm39) F183L probably benign Het
Proser3 A G 7: 30,239,749 (GRCm39) F452L possibly damaging Het
Ptgfrn G T 3: 100,987,511 (GRCm39) Y117* probably null Het
Rab3gap2 G T 1: 184,980,250 (GRCm39) V360F probably benign Het
Rp1l1 A T 14: 64,266,475 (GRCm39) D687V possibly damaging Het
Rxfp2 T G 5: 149,966,572 (GRCm39) N103K probably benign Het
Scfd2 T A 5: 74,558,326 (GRCm39) Q517L possibly damaging Het
Scnn1b G A 7: 121,517,109 (GRCm39) A582T probably damaging Het
Serpinb6e T C 13: 34,021,818 (GRCm39) E170G probably damaging Het
Serpinb8 T A 1: 107,533,527 (GRCm39) V194E probably damaging Het
Sgcz T A 8: 38,006,833 (GRCm39) H191L possibly damaging Het
Sirt1 A T 10: 63,159,775 (GRCm39) L435Q probably damaging Het
Sorcs1 G A 19: 50,301,420 (GRCm39) P315S probably damaging Het
Spdef T A 17: 27,939,134 (GRCm39) S71C possibly damaging Het
Spta1 T A 1: 174,025,317 (GRCm39) H727Q probably damaging Het
Srsf1 C T 11: 87,940,084 (GRCm39) Q199* probably null Het
Stard9 A T 2: 120,526,623 (GRCm39) D960V probably benign Het
Tcp10c A T 17: 13,576,166 (GRCm39) I49F possibly damaging Het
Tgm2 T C 2: 157,971,315 (GRCm39) N308S possibly damaging Het
Tiam2 A G 17: 3,498,660 (GRCm39) D812G probably benign Het
Tph1 A T 7: 46,311,541 (GRCm39) V67D possibly damaging Het
Trps1 C T 15: 50,685,793 (GRCm39) R794H possibly damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn2r92 A T 17: 18,387,005 (GRCm39) T115S probably benign Het
Wdr11 A G 7: 129,208,376 (GRCm39) D377G probably damaging Het
Wdr55 G T 18: 36,895,989 (GRCm39) A251S possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfp109 A T 7: 23,929,231 (GRCm39) H67Q probably benign Het
Zfp462 G A 4: 55,051,271 (GRCm39) C2248Y probably damaging Het
Zyg11b T C 4: 108,102,119 (GRCm39) H534R possibly 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
R1309:Angptl2 UTSW 2 33,136,140 (GRCm39) missense probably benign 0.38
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
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'- CATCGATGGTGAGTACTGGCTG -3'
(R):5'- ATTGTCTGAAGGCAGTAGGC -3'

Sequencing Primer
(F):5'- CTGGAGAACATCTACTGGCTGAC -3'
(R):5'- CAGAAGGAAGGACTTGGTAAAGCTG -3'
Posted On 2019-05-15