Incidental Mutation 'R4027:Ephb3'
ID 313063
Institutional Source Beutler Lab
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21040447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 561 (D561G)
Ref Sequence ENSEMBL: ENSMUSP00000124375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063]
AlphaFold P54754
Predicted Effect probably damaging
Transcript: ENSMUST00000006112
AA Change: D815G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: D815G

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
EPH_lbd 31 204 6.47e-126 SMART
Pfam:GCC2_GCC3 269 312 5.8e-9 PFAM
FN3 332 430 8.43e-9 SMART
FN3 448 527 2.72e-12 SMART
Pfam:EphA2_TM 555 625 1e-24 PFAM
TyrKc 628 887 1.35e-134 SMART
SAM 917 984 3.88e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160053
Predicted Effect probably damaging
Transcript: ENSMUST00000161063
AA Change: D561G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9626 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. 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 divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Ephb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ephb3 APN 16 21,039,165 (GRCm39) splice site probably null
IGL00966:Ephb3 APN 16 21,036,044 (GRCm39) missense probably benign 0.00
IGL02166:Ephb3 APN 16 21,039,499 (GRCm39) missense probably damaging 1.00
IGL02245:Ephb3 APN 16 21,040,174 (GRCm39) missense probably benign 0.04
IGL02321:Ephb3 APN 16 21,033,139 (GRCm39) missense probably damaging 1.00
IGL02337:Ephb3 APN 16 21,040,253 (GRCm39) splice site probably null
IGL02507:Ephb3 APN 16 21,039,389 (GRCm39) splice site probably benign
IGL02755:Ephb3 APN 16 21,040,448 (GRCm39) missense probably damaging 1.00
IGL02806:Ephb3 APN 16 21,041,031 (GRCm39) missense probably benign 0.02
PIT4362001:Ephb3 UTSW 16 21,039,607 (GRCm39) missense probably damaging 1.00
R0026:Ephb3 UTSW 16 21,033,667 (GRCm39) missense probably damaging 1.00
R0194:Ephb3 UTSW 16 21,036,859 (GRCm39) missense probably benign 0.01
R0196:Ephb3 UTSW 16 21,036,804 (GRCm39) missense probably damaging 1.00
R0230:Ephb3 UTSW 16 21,039,525 (GRCm39) missense probably damaging 1.00
R0828:Ephb3 UTSW 16 21,037,784 (GRCm39) unclassified probably benign
R1126:Ephb3 UTSW 16 21,041,226 (GRCm39) missense possibly damaging 0.87
R1460:Ephb3 UTSW 16 21,037,672 (GRCm39) missense probably benign
R1592:Ephb3 UTSW 16 21,040,450 (GRCm39) missense probably damaging 1.00
R1632:Ephb3 UTSW 16 21,031,687 (GRCm39) missense probably benign 0.00
R1694:Ephb3 UTSW 16 21,040,495 (GRCm39) missense probably damaging 1.00
R1719:Ephb3 UTSW 16 21,039,400 (GRCm39) missense probably damaging 1.00
R1777:Ephb3 UTSW 16 21,035,985 (GRCm39) missense probably damaging 0.99
R1928:Ephb3 UTSW 16 21,041,045 (GRCm39) missense possibly damaging 0.86
R1956:Ephb3 UTSW 16 21,040,132 (GRCm39) missense probably damaging 1.00
R2378:Ephb3 UTSW 16 21,036,993 (GRCm39) missense probably benign
R3408:Ephb3 UTSW 16 21,038,254 (GRCm39) missense probably damaging 0.99
R4429:Ephb3 UTSW 16 21,033,213 (GRCm39) missense probably damaging 1.00
R4655:Ephb3 UTSW 16 21,040,958 (GRCm39) missense probably damaging 0.98
R4826:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4828:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4960:Ephb3 UTSW 16 21,039,245 (GRCm39) missense probably benign 0.09
R5057:Ephb3 UTSW 16 21,039,197 (GRCm39) missense probably damaging 1.00
R5090:Ephb3 UTSW 16 21,033,237 (GRCm39) missense probably damaging 1.00
R5396:Ephb3 UTSW 16 21,037,855 (GRCm39) missense possibly damaging 0.91
R5540:Ephb3 UTSW 16 21,039,610 (GRCm39) missense probably damaging 1.00
R5628:Ephb3 UTSW 16 21,036,869 (GRCm39) missense probably damaging 1.00
R5666:Ephb3 UTSW 16 21,041,241 (GRCm39) missense probably benign 0.08
R5838:Ephb3 UTSW 16 21,040,437 (GRCm39) missense probably damaging 1.00
R5866:Ephb3 UTSW 16 21,030,129 (GRCm39) intron probably benign
R6017:Ephb3 UTSW 16 21,040,781 (GRCm39) missense probably damaging 1.00
R6020:Ephb3 UTSW 16 21,040,763 (GRCm39) missense probably damaging 0.99
R6510:Ephb3 UTSW 16 21,036,861 (GRCm39) missense probably damaging 0.98
R6539:Ephb3 UTSW 16 21,040,218 (GRCm39) missense probably benign
R6591:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R6691:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R7101:Ephb3 UTSW 16 21,037,268 (GRCm39) missense possibly damaging 0.86
R7111:Ephb3 UTSW 16 21,037,577 (GRCm39) nonsense probably null
R7236:Ephb3 UTSW 16 21,033,231 (GRCm39) missense probably damaging 1.00
R7307:Ephb3 UTSW 16 21,040,976 (GRCm39) missense probably benign 0.04
R7410:Ephb3 UTSW 16 21,040,158 (GRCm39) missense possibly damaging 0.75
R7413:Ephb3 UTSW 16 21,033,457 (GRCm39) missense probably damaging 1.00
R7452:Ephb3 UTSW 16 21,036,107 (GRCm39) splice site probably null
R7944:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R7945:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R9092:Ephb3 UTSW 16 21,041,214 (GRCm39) missense probably benign 0.01
R9504:Ephb3 UTSW 16 21,036,830 (GRCm39) missense possibly damaging 0.48
R9706:Ephb3 UTSW 16 21,039,193 (GRCm39) missense probably damaging 1.00
Z1176:Ephb3 UTSW 16 21,036,786 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGGTACAGGAAGCCTCTGAG -3'
(R):5'- GGTAACCGATAGTCTTGCTCTACAG -3'

Sequencing Primer
(F):5'- TACAGGAAGCCTCTGAGGGATTTG -3'
(R):5'- GCTCTACAGCATTAATGACCTGG -3'
Posted On 2015-04-30