Incidental Mutation 'R5540:Ephb3'
ID 435922
Institutional Source Beutler Lab
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21039610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 454 (F454Y)
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: F708Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: F708Y

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: F454Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G 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
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
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
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'- AGAGCAAGTGGTCCTGCAAG -3'
(R):5'- TTGTCTCCAACATCCCAGTGG -3'

Sequencing Primer
(F):5'- TCGACTGAAACTGCCCGG -3'
(R):5'- CCAGCCCTAGTTTATAACTGAGG -3'
Posted On 2016-10-24