Incidental Mutation 'IGL02076:Efnb2'
ID185989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efnb2
Ensembl Gene ENSMUSG00000001300
Gene Nameephrin B2
SynonymsLERK-5, Epl5, Htk-L, ELF-2, NLERK-1, Eplg5, Lerk5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02076
Quality Score
Status
Chromosome8
Chromosomal Location8617434-8661242 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8660488 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 43 (S43P)
Ref Sequence ENSEMBL: ENSMUSP00000001319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001319] [ENSMUST00000048545]
PDB Structure
CRYSTAL STRUCTURE OF THE MURINE EPHRIN-B2 ECTODOMAIN [X-RAY DIFFRACTION]
Crystal Structure of the EphB2-ephrinB2 complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000001319
AA Change: S43P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: S43P

DomainStartEndE-ValueType
Pfam:Ephrin 32 167 4.6e-53 PFAM
transmembrane domain 231 253 N/A INTRINSIC
low complexity region 267 277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048545
SMART Domains Protein: ENSMUSP00000039493
Gene: ENSMUSG00000040459

DomainStartEndE-ValueType
low complexity region 3 75 N/A INTRINSIC
low complexity region 95 113 N/A INTRINSIC
Pfam:ARGLU 117 267 8.2e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209169
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in angiogenesis of both arteries and veins and die by embryonic day 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,900 Y407C probably damaging Het
Capn5 T A 7: 98,131,743 K276* probably null Het
Cct4 T C 11: 23,002,394 V495A probably damaging Het
Dapk3 A G 10: 81,190,297 K141E probably damaging Het
Diexf T C 1: 193,130,059 H31R probably damaging Het
Dnah2 T C 11: 69,422,559 N4264S probably damaging Het
Dok1 A G 6: 83,032,831 L99P probably damaging Het
Ebf3 A G 7: 137,231,301 V215A possibly damaging Het
Jhy G A 9: 40,917,378 Q411* probably null Het
Krt73 G A 15: 101,799,935 T229I probably damaging Het
Mroh8 A G 2: 157,271,962 probably null Het
Olfm1 A G 2: 28,222,625 T223A probably damaging Het
Olfr32 T A 2: 90,138,815 E108V probably damaging Het
Olfr937 A G 9: 39,060,585 L27P probably damaging Het
Oprk1 T A 1: 5,602,289 D216E probably damaging Het
Pim1 T A 17: 29,493,803 I230N probably damaging Het
Ppm1f A C 16: 16,914,171 T162P possibly damaging Het
Rbbp8 T C 18: 11,705,819 Y186H probably damaging Het
Sema4a C T 3: 88,450,522 R225H probably damaging Het
Slc15a2 A C 16: 36,762,381 F215C probably damaging Het
Slc25a1 A G 16: 17,927,626 C41R possibly damaging Het
Stil C A 4: 115,023,637 H459Q probably benign Het
Tbc1d32 A G 10: 56,088,403 I900T possibly damaging Het
Tmem33 T C 5: 67,286,103 F208L probably damaging Het
Vmn2r72 A G 7: 85,738,367 V663A probably damaging Het
Other mutations in Efnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Efnb2 APN 8 8660589 missense probably benign 0.08
IGL03333:Efnb2 APN 8 8639275 nonsense probably null
IGL03098:Efnb2 UTSW 8 8663420 unclassified probably benign
R1416:Efnb2 UTSW 8 8622329 critical splice donor site probably null
R1760:Efnb2 UTSW 8 8623184 missense possibly damaging 0.90
R1783:Efnb2 UTSW 8 8623237 missense probably damaging 1.00
R4272:Efnb2 UTSW 8 8620698 missense probably damaging 0.99
R4398:Efnb2 UTSW 8 8620832 missense possibly damaging 0.80
R4782:Efnb2 UTSW 8 8623104 intron probably null
R4799:Efnb2 UTSW 8 8623104 intron probably null
R5193:Efnb2 UTSW 8 8623162 missense probably damaging 1.00
R5443:Efnb2 UTSW 8 8620862 missense probably damaging 1.00
R5749:Efnb2 UTSW 8 8639347 missense probably damaging 1.00
R6083:Efnb2 UTSW 8 8622328 splice site probably null
R6266:Efnb2 UTSW 8 8660524 missense probably benign
R6482:Efnb2 UTSW 8 8620637 missense probably damaging 1.00
R7371:Efnb2 UTSW 8 8660524 missense probably benign
Z1177:Efnb2 UTSW 8 8623147 critical splice donor site probably null
Posted On2014-05-07