Incidental Mutation 'R1592:Ephb3'
ID 175692
Institutional Source Beutler Lab
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
MMRRC Submission 039629-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R1592 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21040450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 562 (V562A)
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: V816A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: V816A

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: V562A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2993 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (51/51)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,783,444 (GRCm39) E327G probably damaging Het
Acp5 A T 9: 22,039,147 (GRCm39) W189R probably damaging Het
Adamts8 T C 9: 30,854,472 (GRCm39) S114P probably damaging Het
Alkbh3 A C 2: 93,838,769 (GRCm39) probably null Het
Ankrd13d T C 19: 4,332,919 (GRCm39) H27R probably benign Het
Aox1 A G 1: 58,339,853 (GRCm39) N382S probably benign Het
Aspg G A 12: 112,086,406 (GRCm39) R220Q probably benign Het
Atg16l2 C A 7: 100,941,193 (GRCm39) G403V probably damaging Het
Bcat1 G T 6: 144,955,784 (GRCm39) Q299K probably benign Het
Cc2d1b C T 4: 108,483,868 (GRCm39) probably benign Het
Cdh26 T C 2: 178,091,684 (GRCm39) F81S probably damaging Het
Cnbd2 A G 2: 156,177,322 (GRCm39) I222M probably benign Het
Fam186a T C 15: 99,838,199 (GRCm39) T2682A probably benign Het
Fat2 T C 11: 55,182,696 (GRCm39) probably null Het
Fat4 A T 3: 39,061,326 (GRCm39) D4303V probably damaging Het
Fbln1 T A 15: 85,115,665 (GRCm39) S234T probably benign Het
Gldc G A 19: 30,138,077 (GRCm39) probably benign Het
Gli1 A C 10: 127,167,198 (GRCm39) V685G probably damaging Het
H2-T22 T C 17: 36,352,469 (GRCm39) N152S probably damaging Het
Inpp5d A T 1: 87,593,254 (GRCm39) D118V possibly damaging Het
Ints10 A G 8: 69,255,555 (GRCm39) I182V possibly damaging Het
Ipcef1 C T 10: 6,885,182 (GRCm39) probably null Het
Kcnj3 G T 2: 55,327,898 (GRCm39) R229L probably damaging Het
Klf11 C A 12: 24,703,737 (GRCm39) D57E probably damaging Het
Krt73 G T 15: 101,710,674 (GRCm39) S20* probably null Het
Lactbl1 A G 4: 136,363,187 (GRCm39) probably null Het
Mapk10 T C 5: 103,186,487 (GRCm39) D45G possibly damaging Het
Mfrp G A 9: 44,014,519 (GRCm39) C222Y probably damaging Het
Mga A T 2: 119,795,147 (GRCm39) I2944F possibly damaging Het
Msh2 A G 17: 87,987,441 (GRCm39) probably null Het
Nckap1l T A 15: 103,390,607 (GRCm39) probably null Het
Or5m9 A G 2: 85,877,333 (GRCm39) N169S probably benign Het
Pitpnm1 T A 19: 4,156,964 (GRCm39) probably null Het
Sik2 C T 9: 50,906,971 (GRCm39) V85I probably damaging Het
Slc26a7 T A 4: 14,552,470 (GRCm39) E229V probably benign Het
Spty2d1 A T 7: 46,648,637 (GRCm39) D97E possibly damaging Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Uggt1 C A 1: 36,241,939 (GRCm39) A332S probably benign Het
Usp53 A T 3: 122,727,699 (GRCm39) L961* probably null Het
Vmn1r223 A T 13: 23,433,837 (GRCm39) T144S possibly damaging Het
Wdfy1 G A 1: 79,683,972 (GRCm39) R388C probably damaging Het
Zfp995 T A 17: 22,106,321 (GRCm39) M1L probably damaging 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
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
R4027:Ephb3 UTSW 16 21,040,447 (GRCm39) missense probably damaging 1.00
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'- CAACAGCAACTTGGTCTGCAAAGTC -3'
(R):5'- AACAGTCCAGCATGAGCTGGTG -3'

Sequencing Primer
(F):5'- TGGTCTGCAAAGTCTCTGAC -3'
(R):5'- GGTAACCGATAGTCTTGCTCTACAG -3'
Posted On 2014-04-24