Incidental Mutation 'R5443:Efnb2'
ID 427277
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 043008-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5443 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 8667434-8711242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8670862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 129 (I129T)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001319]
AlphaFold P52800
Predicted Effect probably damaging
Transcript: ENSMUST00000001319
AA Change: I246T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: I246T

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 damaging
Transcript: ENSMUST00000152698
AA Change: I129T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116027
Gene: ENSMUSG00000001300
AA Change: I129T

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 0.1972 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.9%
Validation Efficiency 99% (68/69)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,576 (GRCm39) E795D probably damaging Het
Aldh6a1 T C 12: 84,484,745 (GRCm39) probably null Het
Aox4 A G 1: 58,273,151 (GRCm39) probably null Het
Arhgap39 G A 15: 76,682,125 (GRCm39) probably benign Het
AW551984 T C 9: 39,509,325 (GRCm39) E272G possibly damaging Het
C1qc G A 4: 136,619,804 (GRCm39) probably benign Het
Carhsp1 C A 16: 8,482,203 (GRCm39) R26L probably benign Het
Cdh12 G T 15: 21,237,935 (GRCm39) V57L probably benign Het
Cfap298 G T 16: 90,724,099 (GRCm39) Q168K probably benign Het
Clec3a A G 8: 115,144,893 (GRCm39) Y23C probably benign Het
Crebrf G C 17: 26,961,328 (GRCm39) V150L probably damaging Het
Ddx41 G T 13: 55,683,104 (GRCm39) A201E probably benign Het
Doc2b T C 11: 75,670,921 (GRCm39) K237E probably damaging Het
Dst T C 1: 34,267,620 (GRCm39) S5199P probably damaging Het
Epg5 A G 18: 78,070,712 (GRCm39) E2329G possibly damaging Het
Esrrg A C 1: 187,775,622 (GRCm39) T27P possibly damaging Het
Fah T A 7: 84,241,604 (GRCm39) R316W probably damaging Het
Fat4 T C 3: 39,064,519 (GRCm39) L4825P probably damaging Het
Gabbr1 T C 17: 37,381,648 (GRCm39) V804A probably damaging Het
Gm1322 G A 2: 67,015,012 (GRCm39) noncoding transcript Het
Gm5114 T A 7: 39,058,289 (GRCm39) K443N probably benign Het
Gnai2 T C 9: 107,497,386 (GRCm39) I3V probably damaging Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Klf15 C A 6: 90,444,342 (GRCm39) Q306K possibly damaging Het
Ly6a2 A T 15: 75,005,568 (GRCm39) noncoding transcript Het
Maco1 A T 4: 134,560,619 (GRCm39) C121* probably null Het
Necab2 A T 8: 120,195,032 (GRCm39) M295L probably benign Het
Nrg1 A T 8: 32,339,348 (GRCm39) Y208N probably damaging Het
Nup88 A T 11: 70,849,256 (GRCm39) Y232* probably null Het
Oacyl A G 18: 65,883,253 (GRCm39) R611G probably benign Het
Oasl1 T C 5: 115,074,129 (GRCm39) probably null Het
Or2n1e T A 17: 38,585,905 (GRCm39) M81K probably damaging Het
Or2y14 G T 11: 49,405,262 (GRCm39) G266C probably damaging Het
Or52h7 T C 7: 104,213,583 (GRCm39) Y52H probably benign Het
Or8k25 A C 2: 86,243,937 (GRCm39) I153R possibly damaging Het
Pate4 A C 9: 35,519,170 (GRCm39) S66A possibly damaging Het
Pigl T A 11: 62,349,309 (GRCm39) C8* probably null Het
Plg G A 17: 12,601,070 (GRCm39) A51T probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppig A T 2: 69,564,635 (GRCm39) D97V probably damaging Het
Ppp1r16a A G 15: 76,578,846 (GRCm39) K517E possibly damaging Het
Prr16 A T 18: 51,436,225 (GRCm39) S235C probably damaging Het
Psmd1 G A 1: 86,017,905 (GRCm39) R572H probably damaging Het
Sbf2 T C 7: 109,977,135 (GRCm39) probably benign Het
Scrt2 A T 2: 151,924,043 (GRCm39) Y25F probably benign Het
Sema6d A T 2: 124,498,756 (GRCm39) H222L probably damaging Het
Septin2 A G 1: 93,425,174 (GRCm39) N110S possibly damaging Het
Shpk G A 11: 73,113,607 (GRCm39) G340D possibly damaging Het
Smg5 T A 3: 88,261,896 (GRCm39) L723H probably damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spo11 T C 2: 172,831,152 (GRCm39) probably benign Het
Srarp T A 4: 141,163,388 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tm9sf2 A T 14: 122,363,607 (GRCm39) Y109F probably damaging Het
Tpcn2 A T 7: 144,809,209 (GRCm39) M699K possibly damaging Het
Trim34a T C 7: 103,909,420 (GRCm39) F289S possibly damaging Het
Trim39 T C 17: 36,571,645 (GRCm39) H371R probably damaging Het
Usp48 T A 4: 137,348,532 (GRCm39) I11N possibly damaging Het
Zbtb10 T C 3: 9,345,108 (GRCm39) F677L probably benign Het
Zer1 C T 2: 30,001,008 (GRCm39) G138S probably damaging Het
Zfp612 A G 8: 110,816,227 (GRCm39) K439R 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
R5193:Efnb2 UTSW 8 8,673,162 (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'- GCTGTCTGCAGTCCTTAGTG -3'
(R):5'- TGTCAAGTTCGCTCTGAGGG -3'

Sequencing Primer
(F):5'- GGTATGATAACGTCACTGGGCTCC -3'
(R):5'- ACATTTCGGGGTTTCTGCAAG -3'
Posted On 2016-09-01