Incidental Mutation 'R4366:Efnb3'
ID 325761
Institutional Source Beutler Lab
Gene Symbol Efnb3
Ensembl Gene ENSMUSG00000003934
Gene Name ephrin B3
Synonyms Epl8, NLERK-2, ELF-3, Elk-L3, EFL-6, LERK-8
MMRRC Submission 041114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4366 (G1)
Quality Score 188
Status Not validated
Chromosome 11
Chromosomal Location 69444918-69451031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69446771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 313 (K313R)
Ref Sequence ENSEMBL: ENSMUSP00000004036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004036]
AlphaFold O35393
PDB Structure Crystal Structures of Nipah Virus G Attachment Glycoprotein in Complex with its Receptor Ephrin-B3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000004036
AA Change: K313R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004036
Gene: ENSMUSG00000003934
AA Change: K313R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Ephrin 28 167 2.8e-45 PFAM
transmembrane domain 225 247 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit a hopping gait due to corticospinal tract defects, mutations that remove only the cytoplasmic domain of the protein do not result in the gait or CNS phenotypes, and a G244E mutation causes ataxia [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 A C 17: 43,752,860 (GRCm39) T396P probably damaging Het
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Apol7c T G 15: 77,410,589 (GRCm39) D119A probably benign Het
App G T 16: 84,853,321 (GRCm39) D252E unknown Het
C4a T A 17: 35,033,885 (GRCm39) noncoding transcript Het
Cacna1b T C 2: 24,592,632 (GRCm39) Y515C probably damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Cldn6 G C 17: 23,900,494 (GRCm39) A153P probably benign Het
Cmya5 T C 13: 93,228,464 (GRCm39) N2208S probably benign Het
Csnk1g1 A G 9: 65,927,135 (GRCm39) T101A probably benign Het
Ddx46 T A 13: 55,811,049 (GRCm39) D544E probably benign Het
Dmxl1 T A 18: 50,011,084 (GRCm39) C1080* probably null Het
Dst T C 1: 34,290,959 (GRCm39) S3335P probably damaging Het
Elf2 G A 3: 51,215,570 (GRCm39) Q47* probably null Het
Epc2 A G 2: 49,437,566 (GRCm39) K657E possibly damaging Het
Ephx4 A G 5: 107,551,679 (GRCm39) probably benign Het
Ereg T C 5: 91,234,659 (GRCm39) I24T probably benign Het
Evc2 C A 5: 37,496,013 (GRCm39) A41D possibly damaging Het
Fkbp15 A G 4: 62,254,651 (GRCm39) V283A probably benign Het
Flrt3 T C 2: 140,502,327 (GRCm39) T434A probably damaging Het
Gm572 A G 4: 148,739,322 (GRCm39) D50G possibly damaging Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hivep3 A C 4: 119,953,286 (GRCm39) H534P possibly damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Ipo7 T C 7: 109,628,919 (GRCm39) M63T possibly damaging Het
Ipo7 A T 7: 109,647,423 (GRCm39) T614S possibly damaging Het
Krt87 T G 15: 101,385,395 (GRCm39) M326L probably benign Het
Mbd5 T A 2: 49,162,978 (GRCm39) N261K probably damaging Het
Mcam T A 9: 44,045,994 (GRCm39) L3Q probably damaging Het
Mcoln3 C A 3: 145,846,247 (GRCm39) T519K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrgprx1 C A 7: 47,670,941 (GRCm39) A269S probably damaging Het
Mypn T C 10: 63,028,487 (GRCm39) E192G probably benign Het
Nup205 C A 6: 35,168,962 (GRCm39) P397Q probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Ofcc1 A G 13: 40,168,937 (GRCm39) S817P probably benign Het
Or6c210 A T 10: 129,496,400 (GRCm39) M242L probably benign Het
Or8b12c A T 9: 37,715,486 (GRCm39) H93L probably benign Het
Pcdhgb7 A G 18: 37,887,125 (GRCm39) Y765C possibly damaging Het
Pde7a A G 3: 19,365,026 (GRCm39) probably null Het
Phip C T 9: 82,782,922 (GRCm39) probably benign Het
Rhbdl2 T A 4: 123,703,728 (GRCm39) M1K probably null Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Sf3a3 A G 4: 124,618,932 (GRCm39) T298A probably benign Het
Slc25a29 C T 12: 108,797,097 (GRCm39) probably benign Het
Spinkl T G 18: 44,307,650 (GRCm39) T4P possibly damaging Het
Stk33 G A 7: 108,879,002 (GRCm39) S449L probably benign Het
Suz12 T A 11: 79,892,988 (GRCm39) probably benign Het
Timp2 T A 11: 118,201,497 (GRCm39) I124F probably damaging Het
Tlr1 C T 5: 65,083,180 (GRCm39) D466N probably benign Het
Tmem200b A G 4: 131,649,781 (GRCm39) I234V possibly damaging Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Usp33 C A 3: 152,074,149 (GRCm39) Q332K probably benign Het
Zfr A G 15: 12,156,416 (GRCm39) E634G probably damaging Het
Other mutations in Efnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Efnb3 APN 11 69,447,730 (GRCm39) critical splice donor site probably null
IGL03114:Efnb3 APN 11 69,447,628 (GRCm39) unclassified probably benign
IGL03328:Efnb3 APN 11 69,448,031 (GRCm39) missense probably damaging 1.00
turtle UTSW 11 69,448,109 (GRCm39) missense probably damaging 1.00
R0621:Efnb3 UTSW 11 69,446,798 (GRCm39) missense probably damaging 1.00
R6215:Efnb3 UTSW 11 69,447,591 (GRCm39) missense probably benign 0.05
R6356:Efnb3 UTSW 11 69,446,966 (GRCm39) missense probably benign 0.01
R7638:Efnb3 UTSW 11 69,448,046 (GRCm39) missense possibly damaging 0.53
R9794:Efnb3 UTSW 11 69,448,232 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTGTCCCTCATACCATG -3'
(R):5'- ATCCAGATGGTTCCTTCAGCC -3'

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