Incidental Mutation 'R3898:Ecscr'
ID 309079
Institutional Source Beutler Lab
Gene Symbol Ecscr
Ensembl Gene ENSMUSG00000073599
Gene Name endothelial cell surface expressed chemotaxis and apoptosis regulator
Synonyms 1110006O17Rik, ARIA
MMRRC Submission 040906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3898 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 35846139-35855409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35846705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 230 (S230P)
Ref Sequence ENSEMBL: ENSMUSP00000118628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097618] [ENSMUST00000133064]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097618
AA Change: S225P

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599
AA Change: S225P

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: S230P

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118628
Gene: ENSMUSG00000073599
AA Change: S230P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg1 A C 16: 5,054,253 (GRCm39) I154L possibly damaging Het
Ankra2 C T 13: 98,410,317 (GRCm39) L136F probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Cabyr T C 18: 12,884,580 (GRCm39) S356P probably benign Het
Cad G T 5: 31,231,366 (GRCm39) C1633F probably benign Het
Cadps2 G A 6: 23,528,125 (GRCm39) R425W probably damaging Het
Ccdc180 A G 4: 45,912,799 (GRCm39) K593E possibly damaging Het
Cdh8 T A 8: 99,898,005 (GRCm39) E436V probably damaging Het
Cfap95 A G 19: 23,570,466 (GRCm39) V101A probably benign Het
Cln6 T G 9: 62,757,934 (GRCm39) F231C probably damaging Het
Cul2 A G 18: 3,434,033 (GRCm39) K677E probably benign Het
Cyp2c69 T C 19: 39,864,834 (GRCm39) I215V probably benign Het
Dhx36 T C 3: 62,399,790 (GRCm39) D393G probably damaging Het
Dnah7b T C 1: 46,282,417 (GRCm39) V2850A probably damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Drg2 T A 11: 60,347,460 (GRCm39) S50T probably benign Het
Eif2ak4 T C 2: 118,261,404 (GRCm39) V527A probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Fli1 C T 9: 32,388,018 (GRCm39) G24R possibly damaging Het
Frmd3 A G 4: 73,992,346 (GRCm39) D71G probably damaging Het
Ggnbp1 A G 17: 27,244,312 (GRCm39) probably benign Het
Gpat2 T C 2: 127,277,018 (GRCm39) F713S probably damaging Het
H2-Q2 C T 17: 35,561,743 (GRCm39) P78S probably damaging Het
Kcnq2 C T 2: 180,751,479 (GRCm39) A306T probably damaging Het
Lmntd1 G A 6: 145,359,152 (GRCm39) P333S probably benign Het
Lrp1 G A 10: 127,427,969 (GRCm39) R535* probably null Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Nlrp1a G A 11: 71,013,700 (GRCm39) P517S probably benign Het
Or2y13 A T 11: 49,415,386 (GRCm39) I279F probably damaging Het
Pou4f1 T C 14: 104,703,165 (GRCm39) *422W probably null Het
Ptpn14 C T 1: 189,582,728 (GRCm39) P525L probably benign Het
Pyroxd2 C A 19: 42,728,831 (GRCm39) G190C probably damaging Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Sptbn5 T C 2: 119,887,691 (GRCm39) noncoding transcript Het
Tbc1d5 A T 17: 51,270,772 (GRCm39) F153Y probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Trim30d T A 7: 104,132,736 (GRCm39) I184L probably benign Het
Ubr5 T C 15: 37,997,983 (GRCm39) S1727G probably benign Het
Vezf1 T C 11: 87,966,999 (GRCm39) F77L probably benign Het
Vmn2r12 C T 5: 109,238,370 (GRCm39) A457T probably benign Het
Xirp1 A T 9: 119,848,406 (GRCm39) M159K probably benign Het
Zkscan17 C T 11: 59,394,263 (GRCm39) A113T probably damaging Het
Zyg11a T A 4: 108,067,391 (GRCm39) N40Y probably damaging Het
Other mutations in Ecscr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02664:Ecscr APN 18 35,854,451 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- CTCCAGGTCACTCTTAAAGAATCTG -3'
(R):5'- TTCTGGCATGAGGACTGAAG -3'

Sequencing Primer
(F):5'- GGTCACTCTTAAAGAATCTGAAATGC -3'
(R):5'- ACTGAAGGCCCAGTGCTC -3'
Posted On 2015-04-17