Incidental Mutation 'R4398:Efnb2'
ID 325587
Institutional Source Beutler Lab
Gene Symbol Efnb2
Ensembl Gene ENSMUSG00000001300
Gene Name ephrin B2
Synonyms Eplg5, Epl5, Lerk5, Htk-L, NLERK-1, LERK-5, ELF-2
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 8667434-8711242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8670832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 256 (R256H)
Ref Sequence ENSEMBL: ENSMUSP00000001319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001319]
AlphaFold P52800
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 possibly damaging
Transcript: ENSMUST00000001319
AA Change: R256H

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: R256H

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 unknown
Transcript: ENSMUST00000152698
AA Change: R139H
SMART Domains Protein: ENSMUSP00000116027
Gene: ENSMUSG00000001300
AA Change: R139H

DomainStartEndE-ValueType
Pfam:Ephrin 1 68 1.3e-19 PFAM
transmembrane domain 115 137 N/A INTRINSIC
low complexity region 151 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208426
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign Het
Other mutations in Efnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Efnb2 APN 8 8,710,589 (GRCm39) missense probably benign 0.08
IGL02076:Efnb2 APN 8 8,710,488 (GRCm39) missense probably benign
IGL03333:Efnb2 APN 8 8,689,275 (GRCm39) nonsense probably null
IGL03098:Efnb2 UTSW 8 8,713,420 (GRCm39) unclassified probably benign
R1416:Efnb2 UTSW 8 8,672,329 (GRCm39) critical splice donor site probably null
R1760:Efnb2 UTSW 8 8,673,184 (GRCm39) missense possibly damaging 0.90
R1783:Efnb2 UTSW 8 8,673,237 (GRCm39) missense probably damaging 1.00
R4272:Efnb2 UTSW 8 8,670,698 (GRCm39) missense probably damaging 0.99
R4782:Efnb2 UTSW 8 8,673,104 (GRCm39) splice site probably null
R4799:Efnb2 UTSW 8 8,673,104 (GRCm39) splice site probably null
R5193:Efnb2 UTSW 8 8,673,162 (GRCm39) missense probably damaging 1.00
R5443:Efnb2 UTSW 8 8,670,862 (GRCm39) missense probably damaging 1.00
R5749:Efnb2 UTSW 8 8,689,347 (GRCm39) missense probably damaging 1.00
R6083:Efnb2 UTSW 8 8,672,328 (GRCm39) splice site probably null
R6266:Efnb2 UTSW 8 8,710,524 (GRCm39) missense probably benign
R6482:Efnb2 UTSW 8 8,670,637 (GRCm39) missense probably damaging 1.00
R7371:Efnb2 UTSW 8 8,710,524 (GRCm39) missense probably benign
R8813:Efnb2 UTSW 8 8,670,731 (GRCm39) missense probably damaging 1.00
R9630:Efnb2 UTSW 8 8,670,617 (GRCm39) missense probably damaging 1.00
Z1177:Efnb2 UTSW 8 8,673,147 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCTCCTGCACGATGTACACC -3'
(R):5'- TCTGCAAGAAACAGGGCAC -3'

Sequencing Primer
(F):5'- ATGTACACCGGGTGCCCATAG -3'
(R):5'- AGGACTCTGGTAACTGGCTC -3'
Posted On 2015-07-06