Incidental Mutation 'R3432:Angptl2'
ID 266222
Institutional Source Beutler Lab
Gene Symbol Angptl2
Ensembl Gene ENSMUSG00000004105
Gene Name angiopoietin-like 2
Synonyms Arp2
MMRRC Submission 040650-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R3432 (G1)
Quality Score 124
Status Validated
Chromosome 2
Chromosomal Location 33106081-33137729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33118814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
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: V196A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: V196A

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: ENSMUST00000139148
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 G A 1: 125,321,776 (GRCm39) P405S probably damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Aoc1 A T 6: 48,882,778 (GRCm39) H240L probably damaging Het
Arsj A T 3: 126,158,624 (GRCm39) T68S probably benign Het
Atp8b3 T C 10: 80,362,014 (GRCm39) K708E probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Ceacam5 T A 7: 17,448,901 (GRCm39) V89E probably benign Het
Cpt1b T C 15: 89,307,944 (GRCm39) E205G possibly damaging Het
Dhrs7c C T 11: 67,700,699 (GRCm39) T82I probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fam89b A T 19: 5,781,761 (GRCm39) probably null Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Glp1r T A 17: 31,143,531 (GRCm39) L189H probably damaging Het
Gstp1 G A 19: 4,086,695 (GRCm39) T110I possibly damaging Het
Hbq1a T G 11: 32,250,715 (GRCm39) S133A probably benign Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Il18r1 C T 1: 40,526,249 (GRCm39) T265M probably damaging Het
Lpp T C 16: 24,708,636 (GRCm39) V447A probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmel1 C T 4: 154,969,955 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,283 (GRCm39) E471G probably damaging Het
Obscn A G 11: 58,922,003 (GRCm39) L317P probably damaging Het
Or8b57 A T 9: 40,003,845 (GRCm39) M139K probably damaging Het
Psg18 A G 7: 18,083,096 (GRCm39) V232A possibly damaging Het
Ptprt T C 2: 161,769,449 (GRCm39) E472G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rbm15 A T 3: 107,237,993 (GRCm39) S802T probably benign Het
Sec14l5 A G 16: 4,996,463 (GRCm39) I470V possibly damaging Het
Serpinb1a T C 13: 33,026,842 (GRCm39) T367A possibly damaging Het
Sirpb1a A G 3: 15,491,447 (GRCm39) W7R probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Trim58 T C 11: 58,537,787 (GRCm39) probably benign Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Zdhhc23 T A 16: 43,794,533 (GRCm39) probably benign Het
Zfp407 G A 18: 84,226,871 (GRCm39) A2246V probably damaging Het
Zfp872 C T 9: 22,111,750 (GRCm39) R410* probably null 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
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'- AGTCACGCAGCTGTACATGC -3'
(R):5'- ATGGCTTATCAGTGGAAGATGG -3'

Sequencing Primer
(F):5'- GCAGCTGTACATGCAACTTCTACATG -3'
(R):5'- CTTATCAGTGGAAGATGGGAGACTG -3'
Posted On 2015-02-18