Incidental Mutation 'IGL02879:Ecscr'
ID 362740
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 # IGL02879
Quality Score
Status
Chromosome 18
Chromosomal Location 35846139-35855409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35846731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 221 (N221S)
Ref Sequence ENSEMBL: ENSMUSP00000118628 (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: N216S

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599
AA Change: N216S

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 possibly damaging
Transcript: ENSMUST00000133064
AA Change: N221S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118628
Gene: ENSMUSG00000073599
AA Change: N221S

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,659,966 (GRCm39) Y245C probably damaging Het
Asb3 G A 11: 31,051,067 (GRCm39) R507H probably damaging Het
Cacna1g A C 11: 94,300,431 (GRCm39) I2118S probably benign Het
Col3a1 A T 1: 45,380,119 (GRCm39) probably benign Het
Enpp4 T C 17: 44,412,841 (GRCm39) D231G probably benign Het
Fastkd5 A G 2: 130,456,341 (GRCm39) Y750H probably damaging Het
Gm42688 A G 6: 83,084,125 (GRCm39) Y510C probably damaging Het
Gtse1 T C 15: 85,753,264 (GRCm39) probably benign Het
Il4ra A G 7: 125,176,069 (GRCm39) E759G possibly damaging Het
Itgb4 A G 11: 115,885,178 (GRCm39) D1019G probably benign Het
Kcnh1 T C 1: 191,959,223 (GRCm39) V259A probably damaging Het
Ksr1 G A 11: 78,965,270 (GRCm39) L15F probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Myh15 A T 16: 48,993,422 (GRCm39) T1686S possibly damaging Het
Neb A C 2: 52,146,697 (GRCm39) L2856V possibly damaging Het
Nkapd1 C T 9: 50,520,671 (GRCm39) probably null Het
Pcnx2 A T 8: 126,498,796 (GRCm39) C1568S probably damaging Het
Pld5 T A 1: 175,798,157 (GRCm39) K352I probably damaging Het
Prmt3 A G 7: 49,467,811 (GRCm39) D339G probably benign Het
Ptbp2 A G 3: 119,534,054 (GRCm39) Y272H probably damaging Het
Ptprb A G 10: 116,163,873 (GRCm39) D847G probably benign Het
Rin1 C T 19: 5,101,383 (GRCm39) T89I probably damaging Het
Runx1t1 T C 4: 13,889,868 (GRCm39) I599T unknown Het
Serinc3 A G 2: 163,474,172 (GRCm39) probably benign Het
Slc27a5 C T 7: 12,728,971 (GRCm39) probably benign Het
Terf2 C T 8: 107,803,329 (GRCm39) S417N probably benign Het
Tyw1 T C 5: 130,325,612 (GRCm39) V500A probably damaging Het
Upk1b G A 16: 38,596,640 (GRCm39) probably benign Het
Vmn1r81 C T 7: 11,994,319 (GRCm39) M96I probably benign Het
Vmn2r11 A T 5: 109,201,704 (GRCm39) Y267N possibly damaging Het
Other mutations in Ecscr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02664:Ecscr APN 18 35,854,451 (GRCm39) missense possibly damaging 0.92
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 2015-12-18