Incidental Mutation 'R6176:Ecscr'
ID 487792
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 044318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6176 (G1)
Quality Score 122.467
Status Validated
Chromosome 18
Chromosomal Location 35846139-35855409 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT to CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT at 35849813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000097618] [ENSMUST00000133064]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097618
SMART Domains Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (60/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,295,969 (GRCm39) Q966R probably benign Het
Amn A G 12: 111,240,590 (GRCm39) D74G possibly damaging Het
Ank2 T A 3: 126,739,120 (GRCm39) T2255S probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Apaf1 A G 10: 90,895,433 (GRCm39) probably null Het
Asl T A 5: 130,047,720 (GRCm39) H82L probably benign Het
Atrn A G 2: 130,788,011 (GRCm39) E271G probably benign Het
B4galnt3 A G 6: 120,201,125 (GRCm39) F184S probably damaging Het
C1s2 T A 6: 124,602,768 (GRCm39) H481L probably damaging Het
Cav2 A G 6: 17,286,918 (GRCm39) D58G possibly damaging Het
Cc2d2a A T 5: 43,866,455 (GRCm39) H755L probably benign Het
Ccdc65 A G 15: 98,606,433 (GRCm39) probably null Het
Celsr3 A T 9: 108,705,554 (GRCm39) Y679F probably damaging Het
Cep135 A T 5: 76,772,490 (GRCm39) Y625F probably benign Het
Cfhr1 A G 1: 139,478,654 (GRCm39) S58P probably damaging Het
Clip4 T A 17: 72,113,628 (GRCm39) C259* probably null Het
Cyp2j12 T A 4: 96,029,074 (GRCm39) Q69L probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Efcab3 A T 11: 104,683,383 (GRCm39) I1604F probably benign Het
Fam43b T C 4: 138,122,522 (GRCm39) D266G probably damaging Het
Fbxl13 T A 5: 21,705,498 (GRCm39) I618F possibly damaging Het
Gne C T 4: 44,053,019 (GRCm39) probably benign Het
Gnpat T A 8: 125,605,593 (GRCm39) V321E probably damaging Het
Gpatch8 G A 11: 102,378,350 (GRCm39) A200V unknown Het
Grid1 C A 14: 35,284,504 (GRCm39) A749E probably benign Het
Grip2 C T 6: 91,756,832 (GRCm39) V540I probably benign Het
Ice2 C T 9: 69,324,354 (GRCm39) T759M probably damaging Het
Jrk G T 15: 74,578,189 (GRCm39) N365K possibly damaging Het
Kank4 A G 4: 98,653,791 (GRCm39) I879T probably damaging Het
Krtap20-1 T A 16: 88,812,288 (GRCm39) Y24* probably null Het
Lao1 T A 4: 118,819,197 (GRCm39) M1K probably null Het
Mlf1 A G 3: 67,291,927 (GRCm39) R31G probably damaging Het
Nt5c3b T C 11: 100,330,974 (GRCm39) probably benign Het
Nusap1 A G 2: 119,460,902 (GRCm39) R132G probably benign Het
Or11g1 A G 14: 50,651,847 (GRCm39) Y282C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w20 G A 2: 87,727,280 (GRCm39) V254I probably benign Het
Or8d2b A C 9: 38,788,673 (GRCm39) D67A probably damaging Het
Paqr9 G T 9: 95,442,828 (GRCm39) V273L possibly damaging Het
Pcdha9 A T 18: 37,131,984 (GRCm39) D351V probably benign Het
Pcdhga1 A G 18: 37,797,282 (GRCm39) D762G probably benign Het
Pde3a T A 6: 141,444,615 (GRCm39) L1141Q possibly damaging Het
Pga5 T A 19: 10,649,149 (GRCm39) probably null Het
Phldb3 C A 7: 24,326,127 (GRCm39) R570S probably damaging Het
Slc22a6 A C 19: 8,599,161 (GRCm39) E264A probably damaging Het
Slc49a4 C T 16: 35,525,167 (GRCm39) M426I probably benign Het
Slit1 T C 19: 41,626,034 (GRCm39) K576R probably damaging Het
Sox21 T C 14: 118,473,040 (GRCm39) K3R possibly damaging Het
Stk32c A T 7: 138,700,691 (GRCm39) D297E probably benign Het
Suclg1 T C 6: 73,252,326 (GRCm39) V323A probably damaging Het
Tas1r2 T G 4: 139,396,199 (GRCm39) C513G probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tbc1d31 T C 15: 57,816,192 (GRCm39) V642A probably damaging Het
Tle2 A T 10: 81,423,168 (GRCm39) D486V probably damaging Het
Tmem232 A G 17: 65,792,867 (GRCm39) I110T probably damaging Het
Tmem39b A G 4: 129,586,894 (GRCm39) Y106H probably damaging Het
Trpm4 T G 7: 44,976,100 (GRCm39) N229T probably damaging Het
Tspo A G 15: 83,458,007 (GRCm39) T120A probably benign Het
Ttc28 G A 5: 111,371,851 (GRCm39) A767T probably damaging Het
Usp53 G A 3: 122,727,652 (GRCm39) Q977* probably null Het
Vmn1r215 T A 13: 23,260,528 (GRCm39) D189E probably damaging Het
Vmn2r12 T C 5: 109,233,866 (GRCm39) Y782C probably benign Het
Vmn2r54 A G 7: 12,349,908 (GRCm39) L558P probably damaging Het
Zfp268 T A 4: 145,350,628 (GRCm39) C688* probably null 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
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
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'- GTTTCTGGCCCTCTTAAAATGATG -3'
(R):5'- AACACTCCTGATGGGGAATGAG -3'

Sequencing Primer
(F):5'- AGCTGGTAGCCTAAGTTCAATCC -3'
(R):5'- CACTCCTGATGGGGAATGAGAAAAG -3'
Posted On 2017-10-10