Incidental Mutation 'IGL02664:Ecscr'
ID 302662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecscr
Ensembl Gene ENSMUSG00000073599
Gene Name endothelial cell surface expressed chemotaxis and apoptosis regulator
Synonyms 1110006O17Rik, ARIA
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02664
Quality Score
Status
Chromosome 18
Chromosomal Location 35846139-35855409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35854451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 5 (I5F)
Ref Sequence ENSEMBL: ENSMUSP00000095223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097618] [ENSMUST00000133064]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000097618
AA Change: I5F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599
AA Change: I5F

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
low complexity region 130 140 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123973
SMART Domains Protein: ENSMUSP00000118479
Gene: ENSMUSG00000073599

DomainStartEndE-ValueType
low complexity region 53 65 N/A INTRINSIC
Pfam:ECSCR 83 156 2.8e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124237
Predicted Effect probably benign
Transcript: ENSMUST00000133064
SMART Domains Protein: ENSMUSP00000118628
Gene: ENSMUSG00000073599

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 101 113 N/A INTRINSIC
Pfam:ECSCR 131 233 7.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134656
SMART Domains Protein: ENSMUSP00000116109
Gene: ENSMUSG00000073599

DomainStartEndE-ValueType
low complexity region 53 65 N/A INTRINSIC
Pfam:ECSCR 83 160 2.3e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143778
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nonfatal embryonic hemorrhage and enhanced ischemia-induced neovascularization. Mice homozygous for a different knock-out allele show increased fasting plasma triglyceride and free fatty acid levels and altered white adipocyte lipolysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign Het
Other mutations in Ecscr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02879:Ecscr APN 18 35,846,731 (GRCm39) missense possibly damaging 0.93
R0538:Ecscr UTSW 18 35,846,689 (GRCm39) intron probably benign
R2070:Ecscr UTSW 18 35,848,490 (GRCm39) missense probably damaging 0.99
R3898:Ecscr UTSW 18 35,846,705 (GRCm39) missense possibly damaging 0.47
R5820:Ecscr UTSW 18 35,850,320 (GRCm39) missense possibly damaging 0.61
R6176:Ecscr UTSW 18 35,849,813 (GRCm39) small deletion probably benign
R7096:Ecscr UTSW 18 35,848,478 (GRCm39) missense probably damaging 1.00
R7185:Ecscr UTSW 18 35,849,857 (GRCm39) missense probably benign 0.01
R9497:Ecscr UTSW 18 35,851,436 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16