Incidental Mutation 'R5193:Efnb2'
ID 399842
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 042769-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5193 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 8667434-8711242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8673162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 165 (M165T)
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 probably damaging
Transcript: ENSMUST00000001319
AA Change: M165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: M165T

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: ENSMUST00000152698
SMART Domains Protein: ENSMUSP00000116027
Gene: ENSMUSG00000001300

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,677,226 (GRCm39) *56R probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgap3 C T 15: 83,216,898 (GRCm39) A156T probably benign Het
Bpifc T C 10: 85,836,497 (GRCm39) T3A probably benign Het
Ccdc7a T A 8: 129,715,278 (GRCm39) I269L probably benign Het
Cd151 A G 7: 141,050,606 (GRCm39) Y253C probably damaging Het
Cenpl C A 1: 160,911,037 (GRCm39) S328* probably null Het
Cfl1 T A 19: 5,542,580 (GRCm39) V20D probably damaging Het
Clec14a A G 12: 58,315,400 (GRCm39) L74P probably damaging Het
Cnn1 A T 9: 22,019,132 (GRCm39) D196V probably damaging Het
Cst13 C A 2: 148,670,143 (GRCm39) C104* probably null Het
Det1 A G 7: 78,493,302 (GRCm39) V234A probably damaging Het
Fbxo10 T A 4: 45,051,573 (GRCm39) K339* probably null Het
Fnta A T 8: 26,501,246 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,338 (GRCm39) Y3219F possibly damaging Het
Gprin2 C T 14: 33,916,832 (GRCm39) V313M possibly damaging Het
Hars1 A G 18: 36,900,358 (GRCm39) L448S possibly damaging Het
Hipk3 A G 2: 104,260,345 (GRCm39) I1166T possibly damaging Het
Il31ra T C 13: 112,660,864 (GRCm39) E602G probably benign Het
Kctd15 A G 7: 34,344,282 (GRCm39) L123P probably damaging Het
Kifbp T C 10: 62,395,175 (GRCm39) D489G possibly damaging Het
Krt1 C A 15: 101,754,357 (GRCm39) S631I unknown Het
Lancl1 T A 1: 67,060,173 (GRCm39) Y84F probably benign Het
Lcor A G 19: 41,570,969 (GRCm39) D54G probably damaging Het
Mafa G T 15: 75,619,666 (GRCm39) P36T unknown Het
Magi2 G A 5: 20,563,970 (GRCm39) probably null Het
Mcm9 T A 10: 53,492,134 (GRCm39) I396F probably damaging Het
Mrgprh T C 17: 13,095,942 (GRCm39) F61L probably damaging Het
Or10g1b A G 14: 52,628,069 (GRCm39) W54R probably benign Het
Or1e16 TAGCGGTCGTA T 11: 73,286,479 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or51a7 T A 7: 102,615,143 (GRCm39) F279I possibly damaging Het
Or5w17 A T 2: 87,583,448 (GRCm39) D296E possibly damaging Het
Pcsk5 T A 19: 17,542,174 (GRCm39) T806S possibly damaging Het
Pigc T C 1: 161,798,465 (GRCm39) I149T possibly damaging Het
Pou5f2 C A 13: 78,173,083 (GRCm39) N8K probably benign Het
Pou6f2 T C 13: 18,300,129 (GRCm39) probably benign Het
Prl3d2 T A 13: 27,306,312 (GRCm39) M13K possibly damaging Het
Pzp T C 6: 128,479,297 (GRCm39) N619D probably benign Het
Rnps1 G A 17: 24,637,517 (GRCm39) S53N probably benign Het
Scaf8 C G 17: 3,240,440 (GRCm39) A604G probably benign Het
Scn10a T C 9: 119,438,721 (GRCm39) N1716S probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 A G 13: 24,003,845 (GRCm39) probably null Het
Syne2 A G 12: 76,141,194 (GRCm39) D6102G probably damaging Het
Tbc1d16 A T 11: 119,049,646 (GRCm39) D283E probably benign Het
Tet1 T C 10: 62,674,026 (GRCm39) D1350G probably benign Het
Trpa1 A G 1: 14,946,141 (GRCm39) Y997H possibly damaging Het
Tyro3 T C 2: 119,640,998 (GRCm39) L494P probably damaging Het
Uba6 G T 5: 86,272,281 (GRCm39) Q803K probably benign Het
Vgll2 T A 10: 51,904,088 (GRCm39) L317Q possibly damaging Het
Wdr62 A T 7: 29,964,592 (GRCm39) I384N probably damaging Het
Wdtc1 G A 4: 133,021,678 (GRCm39) R619* probably null Het
Xkr6 A G 14: 64,056,356 (GRCm39) D89G possibly damaging 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
R4398:Efnb2 UTSW 8 8,670,832 (GRCm39) missense possibly damaging 0.80
R4782:Efnb2 UTSW 8 8,673,104 (GRCm39) splice site probably null
R4799:Efnb2 UTSW 8 8,673,104 (GRCm39) splice site probably null
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'- ATGCTGAGTATTTCACCTTGGG -3'
(R):5'- TCAGCATCCCATACATTCAGAG -3'

Sequencing Primer
(F):5'- ATTTCACCTTGGGGGACAC -3'
(R):5'- CCCATACATTCAGAGAACTTGTG -3'
Posted On 2016-07-06