Incidental Mutation 'R0230:Ephb3'
ID 34083
Institutional Source Beutler Lab
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
MMRRC Submission 038473-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R0230 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21039525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 426 (I426F)
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: I680F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: I680F

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: I426F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6145 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 100% (83/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy1 T C 3: 113,352,079 (GRCm39) D371G probably benign Het
Asrgl1 T A 19: 9,095,883 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,383 (GRCm39) probably benign Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Bbof1 A G 12: 84,471,978 (GRCm39) H74R probably damaging Het
Bpifb9b C T 2: 154,158,995 (GRCm39) T504M probably damaging Het
Cdk12 T G 11: 98,094,817 (GRCm39) S208R probably damaging Het
Cdk5r1 T C 11: 80,368,576 (GRCm39) L81P probably damaging Het
Chrd T C 16: 20,552,025 (GRCm39) L43P probably benign Het
Col6a4 A C 9: 105,949,565 (GRCm39) M690R probably benign Het
Cyp39a1 A T 17: 44,042,903 (GRCm39) R418W probably damaging Het
Dars2 C T 1: 160,890,357 (GRCm39) V162M probably benign Het
Dixdc1 C T 9: 50,606,807 (GRCm39) V270M possibly damaging Het
Dnah11 C A 12: 117,946,791 (GRCm39) E1194* probably null Het
Dnah7b T C 1: 46,258,508 (GRCm39) S1900P probably damaging Het
Dnah9 C T 11: 65,746,141 (GRCm39) E3991K probably damaging Het
Dsp A T 13: 38,381,681 (GRCm39) I2210F probably benign Het
Ebf1 A G 11: 44,886,949 (GRCm39) S556G probably damaging Het
Enam G A 5: 88,637,514 (GRCm39) probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Epc1 T C 18: 6,440,168 (GRCm39) D579G probably damaging Het
Fam135b T G 15: 71,317,886 (GRCm39) I1359L probably benign Het
Fcgbpl1 T A 7: 27,856,250 (GRCm39) H2012Q probably damaging Het
Gm16519 T C 17: 71,236,128 (GRCm39) S26P probably benign Het
Gm17622 T A 13: 96,627,594 (GRCm39) probably null Het
Gpat2 G A 2: 127,277,765 (GRCm39) V764I possibly damaging Het
Gpx4 G A 10: 79,890,838 (GRCm39) A81T probably benign Het
Gss C A 2: 155,420,326 (GRCm39) R83L probably damaging Het
Hcls1 C A 16: 36,758,216 (GRCm39) Q36K probably damaging Het
Hepacam2 A G 6: 3,463,336 (GRCm39) V438A probably benign Het
Hnf4a T C 2: 163,401,005 (GRCm39) F184S probably damaging Het
Katnal1 T A 5: 148,855,460 (GRCm39) D90V possibly damaging Het
Kcnt2 A G 1: 140,174,083 (GRCm39) D30G probably benign Het
Kyat1 T C 2: 30,084,087 (GRCm39) E11G probably benign Het
Lefty1 T A 1: 180,764,579 (GRCm39) V168E probably damaging Het
Map2k6 C T 11: 110,387,281 (GRCm39) P218S probably damaging Het
Mlkl C G 8: 112,041,694 (GRCm39) K415N probably benign Het
Myh7 A T 14: 55,211,390 (GRCm39) M1593K probably benign Het
Myo19 T A 11: 84,784,159 (GRCm39) C186S possibly damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nkiras1 A G 14: 18,280,185 (GRCm38) N192S probably benign Het
Or1j17 G A 2: 36,578,628 (GRCm39) V205M probably benign Het
Or2n1 A G 17: 38,486,841 (GRCm39) I289V probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8u9 T C 2: 86,001,886 (GRCm39) I92V probably benign Het
Pdcd6ip A G 9: 113,514,361 (GRCm39) probably benign Het
Pde4b T C 4: 102,454,707 (GRCm39) Y186H probably benign Het
Pex7 A G 10: 19,780,331 (GRCm39) V101A possibly damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Plxnc1 A G 10: 94,635,209 (GRCm39) V1339A probably benign Het
Proser1 A G 3: 53,386,383 (GRCm39) N755S probably damaging Het
Ptpn13 A G 5: 103,674,997 (GRCm39) D658G probably damaging Het
Rassf8 A C 6: 145,765,700 (GRCm39) probably benign Het
Rfc4 G A 16: 22,932,849 (GRCm39) Q363* probably null Het
Rxfp1 T C 3: 79,552,282 (GRCm39) N673S probably damaging Het
Scn7a T C 2: 66,556,628 (GRCm39) E319G probably damaging Het
Scnn1g A G 7: 121,345,984 (GRCm39) probably benign Het
Scube2 C T 7: 109,423,971 (GRCm39) probably null Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc6a13 A G 6: 121,301,262 (GRCm39) N184D probably benign Het
Slco1a5 T A 6: 142,182,054 (GRCm39) probably benign Het
Slf1 T A 13: 77,260,867 (GRCm39) probably benign Het
Smarca4 G A 9: 21,612,168 (GRCm39) V1518I probably damaging Het
Smyd3 A G 1: 179,250,993 (GRCm39) probably benign Het
Sox5 A G 6: 144,155,064 (GRCm39) F11L probably benign Het
Spag17 T C 3: 100,014,143 (GRCm39) S2139P probably benign Het
Spice1 A T 16: 44,185,939 (GRCm39) probably benign Het
Sptan1 T A 2: 29,900,704 (GRCm39) probably benign Het
Srebf2 T A 15: 82,066,286 (GRCm39) N571K probably damaging Het
Tbl3 A G 17: 24,920,307 (GRCm39) L670P probably damaging Het
Tmem45a2 A G 16: 56,867,359 (GRCm39) V114A possibly damaging Het
Tmigd3 A G 3: 105,826,053 (GRCm39) N132D possibly damaging Het
Ttn T C 2: 76,567,778 (GRCm39) D19378G probably damaging Het
Ugcg C A 4: 59,189,739 (GRCm39) Y32* probably null Het
Ush2a C T 1: 188,582,301 (GRCm39) P3788L probably damaging Het
Usp22 T A 11: 61,050,023 (GRCm39) probably benign Het
Xaf1 T C 11: 72,197,381 (GRCm39) probably benign Het
Zbtb41 C T 1: 139,374,673 (GRCm39) T711I probably damaging Het
Zfp457 T C 13: 67,442,180 (GRCm39) T132A possibly damaging Het
Zfp64 T G 2: 168,754,150 (GRCm39) 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
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
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'- GTAAGCTGAGAGCAAGTGGTCCTG -3'
(R):5'- AAGCCCTCTGAGATCATGCTTTGTC -3'

Sequencing Primer
(F):5'- AAGTGGTCCTGCAAGGC -3'
(R):5'- ttagaccacacagacagtaagag -3'
Posted On 2013-05-09