Incidental Mutation 'R6345:Angpt4'
ID 514089
Institutional Source Beutler Lab
Gene Symbol Angpt4
Ensembl Gene ENSMUSG00000027460
Gene Name angiopoietin 4
Synonyms
MMRRC Submission 044499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6345 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 151753130-151787257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 151771354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 223 (N223K)
Ref Sequence ENSEMBL: ENSMUSP00000028955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028955]
AlphaFold Q9WVH6
Predicted Effect probably benign
Transcript: ENSMUST00000028955
AA Change: N223K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: N223K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 86 95 N/A INTRINSIC
coiled coil region 181 239 N/A INTRINSIC
low complexity region 253 267 N/A INTRINSIC
FBG 292 507 2.23e-98 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,913 (GRCm39) I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 (GRCm39) M137K possibly damaging Het
Ankrd6 T C 4: 32,810,266 (GRCm39) R437G probably damaging Het
Atp9a C T 2: 168,518,093 (GRCm39) S264N probably damaging Het
AY358078 A C 14: 52,063,749 (GRCm39) Y465S probably damaging Het
Bin3 G A 14: 70,374,676 (GRCm39) R235Q probably benign Het
Bsn G A 9: 107,984,554 (GRCm39) P3167S unknown Het
Camk2g G A 14: 20,787,443 (GRCm39) R274C probably damaging Het
Ccdc61 A T 7: 18,643,914 (GRCm39) probably null Het
Ccnjl A T 11: 43,476,165 (GRCm39) T263S probably benign Het
Col17a1 G T 19: 47,641,818 (GRCm39) P944T possibly damaging Het
Cyp2c39 A T 19: 39,501,615 (GRCm39) probably null Het
Cyp2c39 G T 19: 39,501,616 (GRCm39) probably null Het
Cyp4a32 T C 4: 115,459,560 (GRCm39) V98A possibly damaging Het
Dnah9 A G 11: 65,928,519 (GRCm39) V2050A probably damaging Het
F5 A G 1: 164,019,520 (GRCm39) N665S probably benign Het
Fbxl6 A T 15: 76,420,054 (GRCm39) C520S probably damaging Het
Fscn2 C A 11: 120,252,853 (GRCm39) H107N probably damaging Het
Gfm2 C T 13: 97,299,461 (GRCm39) T367M probably damaging Het
Gle1 C G 2: 29,826,127 (GRCm39) P69A probably benign Het
Gpr156 A T 16: 37,807,881 (GRCm39) D176V probably damaging Het
Grip2 A G 6: 91,742,369 (GRCm39) S895P possibly damaging Het
Hfm1 C T 5: 106,989,504 (GRCm39) G1404D probably benign Het
Ifit1bl1 G A 19: 34,571,570 (GRCm39) R296* probably null Het
Ighv1-39 C T 12: 114,878,479 (GRCm39) V31M possibly damaging Het
Itgav A G 2: 83,632,380 (GRCm39) E956G probably damaging Het
Katnip C A 7: 125,352,159 (GRCm39) D26E probably damaging Het
Lsm8 A G 6: 18,853,644 (GRCm39) D86G probably damaging Het
Mdh1b T G 1: 63,754,398 (GRCm39) H390P possibly damaging Het
Mtrf1l A T 10: 5,767,468 (GRCm39) I216N possibly damaging Het
Muc16 G A 9: 18,566,222 (GRCm39) T2099I unknown Het
Myh7 T C 14: 55,221,149 (GRCm39) R925G probably damaging Het
Myo1h T A 5: 114,489,769 (GRCm39) I658N probably damaging Het
Myo5a A T 9: 75,097,195 (GRCm39) D81V possibly damaging Het
Nell1 G A 7: 49,625,171 (GRCm39) C12Y possibly damaging Het
Obscn T C 11: 58,944,522 (GRCm39) Y4724C probably damaging Het
Or8k53 A G 2: 86,177,892 (GRCm39) Y73H probably damaging Het
Pah G A 10: 87,412,049 (GRCm39) D315N probably damaging Het
Per2 A G 1: 91,376,444 (GRCm39) V143A probably damaging Het
Plcxd1 T C 5: 110,248,165 (GRCm39) V38A probably benign Het
Pld1 A G 3: 28,184,896 (GRCm39) probably benign Het
Plekhh2 A G 17: 84,883,215 (GRCm39) N761S probably benign Het
Polh T C 17: 46,493,664 (GRCm39) I318V probably benign Het
Prex1 T C 2: 166,414,880 (GRCm39) Q1323R probably null Het
Rb1cc1 T A 1: 6,333,481 (GRCm39) S1440T probably benign Het
Rbm19 G T 5: 120,265,105 (GRCm39) W382L possibly damaging Het
Rchy1 T C 5: 92,105,801 (GRCm39) D49G probably benign Het
Ric1 A G 19: 29,581,485 (GRCm39) D1402G probably benign Het
S1pr3 G T 13: 51,573,067 (GRCm39) A83S probably damaging Het
S1pr3 C A 13: 51,573,068 (GRCm39) A83D probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpinb9c T C 13: 33,333,978 (GRCm39) R355G probably damaging Het
Slx4 G C 16: 3,808,714 (GRCm39) Q409E probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Specc1l G T 10: 75,084,322 (GRCm39) D682Y probably damaging Het
Spen C T 4: 141,198,944 (GRCm39) V3228I possibly damaging Het
Strip1 T C 3: 107,535,516 (GRCm39) E69G probably damaging Het
Tasp1 C A 2: 139,793,457 (GRCm39) V240L probably damaging Het
Tdrd9 T A 12: 112,001,042 (GRCm39) F787L probably damaging Het
Vmn1r228 A G 17: 20,997,144 (GRCm39) S125P probably damaging Het
Wdhd1 A G 14: 47,489,379 (GRCm39) M718T probably damaging Het
Other mutations in Angpt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Angpt4 APN 2 151,753,391 (GRCm39) missense probably damaging 0.99
IGL03107:Angpt4 APN 2 151,785,342 (GRCm39) missense probably benign 0.08
IGL03343:Angpt4 APN 2 151,778,623 (GRCm39) missense probably damaging 1.00
R0034:Angpt4 UTSW 2 151,771,311 (GRCm39) missense probably benign 0.44
R0709:Angpt4 UTSW 2 151,776,434 (GRCm39) missense possibly damaging 0.46
R0764:Angpt4 UTSW 2 151,753,204 (GRCm39) start gained probably benign
R0853:Angpt4 UTSW 2 151,780,847 (GRCm39) missense probably damaging 1.00
R1796:Angpt4 UTSW 2 151,780,909 (GRCm39) missense probably damaging 1.00
R2091:Angpt4 UTSW 2 151,778,703 (GRCm39) splice site probably benign
R2184:Angpt4 UTSW 2 151,780,874 (GRCm39) missense probably damaging 1.00
R2901:Angpt4 UTSW 2 151,753,259 (GRCm39) missense unknown
R3014:Angpt4 UTSW 2 151,771,517 (GRCm39) missense probably benign 0.07
R4192:Angpt4 UTSW 2 151,785,238 (GRCm39) missense probably benign
R4440:Angpt4 UTSW 2 151,786,566 (GRCm39) missense probably damaging 1.00
R5059:Angpt4 UTSW 2 151,776,360 (GRCm39) missense probably damaging 1.00
R5326:Angpt4 UTSW 2 151,767,464 (GRCm39) critical splice donor site probably null
R7232:Angpt4 UTSW 2 151,771,460 (GRCm39) missense possibly damaging 0.63
R7313:Angpt4 UTSW 2 151,767,326 (GRCm39) missense probably benign
R7456:Angpt4 UTSW 2 151,780,987 (GRCm39) missense probably damaging 1.00
R7598:Angpt4 UTSW 2 151,767,445 (GRCm39) missense possibly damaging 0.95
R7823:Angpt4 UTSW 2 151,753,286 (GRCm39) missense unknown
R8261:Angpt4 UTSW 2 151,769,084 (GRCm39) missense probably benign 0.00
R8682:Angpt4 UTSW 2 151,769,005 (GRCm39) missense probably benign 0.00
R8730:Angpt4 UTSW 2 151,771,467 (GRCm39) missense probably damaging 0.99
R8861:Angpt4 UTSW 2 151,767,373 (GRCm39) missense probably damaging 1.00
R9359:Angpt4 UTSW 2 151,780,892 (GRCm39) missense probably damaging 0.98
R9403:Angpt4 UTSW 2 151,780,892 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTGATCTGAGCTACAGTGGACAC -3'
(R):5'- TGGGCTACAATCCGTACCAG -3'

Sequencing Primer
(F):5'- CTAACAGACTGTGTGACCCTGAG -3'
(R):5'- TACAATCCGTACCAGGCGCTG -3'
Posted On 2018-04-27