Incidental Mutation 'R7742:Angptl2'
ID 596587
Institutional Source Beutler Lab
Gene Symbol Angptl2
Ensembl Gene ENSMUSG00000004105
Gene Name angiopoietin-like 2
Synonyms Arp2
MMRRC Submission 045798-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R7742 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 33106081-33137729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33133928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 417 (T417A)
Ref Sequence ENSEMBL: ENSMUSP00000004208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004208] [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298] [ENSMUST00000193373]
AlphaFold Q9R045
Predicted Effect probably damaging
Transcript: ENSMUST00000004208
AA Change: T417A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: T417A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,714 (GRCm39) K417R possibly damaging Het
Adgrl2 A T 3: 148,542,064 (GRCm39) I886N probably damaging Het
Ankrd33b T C 15: 31,367,538 (GRCm39) M1V probably null Het
Col3a1 A G 1: 45,384,161 (GRCm39) H1155R unknown Het
Csad A G 15: 102,095,599 (GRCm39) S153P probably damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmtf1 C T 5: 9,172,457 (GRCm39) probably benign Het
Dna2 T C 10: 62,809,073 (GRCm39) I1055T probably benign Het
Dnai4 C T 4: 102,947,630 (GRCm39) M215I probably benign Het
Dync2h1 T C 9: 7,076,232 (GRCm39) D2975G probably benign Het
Eif1ad7 A T 12: 88,238,476 (GRCm39) Y95N probably damaging Het
F5 G T 1: 164,035,453 (GRCm39) V1876F possibly damaging Het
Fam81b T A 13: 76,399,809 (GRCm39) I150F probably damaging Het
Fbl T A 7: 27,877,684 (GRCm39) V252E probably damaging Het
Fbln1 A G 15: 85,124,917 (GRCm39) D475G probably damaging Het
Fshr T A 17: 89,293,590 (GRCm39) I363F probably benign Het
Gapvd1 A G 2: 34,568,635 (GRCm39) L1328P probably damaging Het
Hcfc2 T A 10: 82,547,659 (GRCm39) probably null Het
Ifi209 C A 1: 173,470,198 (GRCm39) T262K probably damaging Het
Kif2b T A 11: 91,467,411 (GRCm39) I291F possibly damaging Het
Lrp1b T A 2: 40,712,641 (GRCm39) D3231V Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nudcd1 T C 15: 44,268,754 (GRCm39) K209E probably benign Het
Nup98 C T 7: 101,802,464 (GRCm39) probably null Het
Odad3 T C 9: 21,904,193 (GRCm39) D361G possibly damaging Het
Or2ag2 T C 7: 106,485,829 (GRCm39) Q65R probably damaging Het
Or2j6 T A 7: 139,980,234 (GRCm39) I242F probably benign Het
Pign T C 1: 105,480,122 (GRCm39) I851V probably benign Het
Pkd1l3 T A 8: 110,341,204 (GRCm39) L19Q unknown Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prkcg T C 7: 3,378,459 (GRCm39) I627T possibly damaging Het
Prl7b1 A T 13: 27,791,031 (GRCm39) M18K probably benign Het
Ptpn3 T A 4: 57,265,092 (GRCm39) probably null Het
Rp1 A T 1: 4,240,457 (GRCm39) F899I unknown Het
Sis T A 3: 72,832,431 (GRCm39) Y1026F probably benign Het
Slc4a10 T G 2: 62,127,194 (GRCm39) V879G probably damaging Het
Specc1l T C 10: 75,082,251 (GRCm39) I549T probably benign Het
Spmip11 T A 15: 98,483,250 (GRCm39) V60E probably damaging Het
Sprr2a3 G A 3: 92,196,066 (GRCm39) V58M unknown Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Syne2 C T 12: 76,106,209 (GRCm39) H785Y probably benign Het
Tat T A 8: 110,718,242 (GRCm39) N42K probably benign Het
Tmem184a C T 5: 139,792,744 (GRCm39) A271T probably benign Het
Tmprss11d T C 5: 86,451,493 (GRCm39) I411V probably damaging Het
Ttn T C 2: 76,733,872 (GRCm39) I4468V unknown Het
Vcam1 T C 3: 115,909,734 (GRCm39) N531S possibly damaging Het
Vmn1r257 C T 7: 22,391,343 (GRCm39) V134I probably benign Het
Xcl1 T C 1: 164,763,041 (GRCm39) T7A unknown Het
Zc3h11a A G 1: 133,565,173 (GRCm39) V242A probably benign Het
Zc3h7a A T 16: 10,971,025 (GRCm39) Y335N probably benign Het
Zp2 T C 7: 119,731,731 (GRCm39) I675V unknown 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
R7151:Angptl2 UTSW 2 33,133,922 (GRCm39) nonsense probably null
R7471:Angptl2 UTSW 2 33,133,751 (GRCm39) missense possibly damaging 0.89
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 2019-11-26