Incidental Mutation 'R0106:Ephb6'
ID 63333
Institutional Source Beutler Lab
Gene Symbol Ephb6
Ensembl Gene ENSMUSG00000029869
Gene Name Eph receptor B6
Synonyms Cekl, Mep
MMRRC Submission 038392-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # R0106 (G1)
Quality Score 89
Status Validated
Chromosome 6
Chromosomal Location 41582416-41597443 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 41596528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000114732] [ENSMUST00000201471]
AlphaFold O08644
Predicted Effect probably benign
Transcript: ENSMUST00000031902
SMART Domains Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868

DomainStartEndE-ValueType
ANK 44 74 2.39e2 SMART
ANK 78 107 6.17e-1 SMART
ANK 116 145 3.06e-5 SMART
ANK 162 191 1.85e-4 SMART
Blast:ANK 195 223 3e-10 BLAST
ANK 238 267 2.47e2 SMART
Pfam:Ion_trans 327 589 9.8e-18 PFAM
low complexity region 680 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114732
SMART Domains Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
EPH_lbd 34 227 2.18e-100 SMART
low complexity region 242 255 N/A INTRINSIC
Pfam:GCC2_GCC3 299 341 1.9e-9 PFAM
FN3 365 462 3.59e-3 SMART
FN3 481 562 3.73e-10 SMART
Pfam:EphA2_TM 589 660 3.4e-16 PFAM
Pfam:Pkinase 663 908 1.4e-29 PFAM
Pfam:Pkinase_Tyr 663 908 1.1e-67 PFAM
SAM 938 1005 1e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167082
Predicted Effect probably benign
Transcript: ENSMUST00000167497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194405
Predicted Effect probably benign
Transcript: ENSMUST00000201471
SMART Domains Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868

DomainStartEndE-ValueType
ANK 44 74 2.39e2 SMART
ANK 78 107 6.17e-1 SMART
ANK 116 145 3.06e-5 SMART
ANK 162 191 1.85e-4 SMART
Blast:ANK 195 223 3e-10 BLAST
ANK 238 267 2.47e2 SMART
Pfam:Ion_trans 327 589 9.8e-18 PFAM
low complexity region 680 695 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (84/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: T cell responses such as lymphokine secretion, proliferation, and the development of delayed-type skin hypersensitivity and experimental autoimmune encephalitis were compromised in homozygous null mutants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,221,123 (GRCm39) N276S possibly damaging Het
Arhgef25 A G 10: 127,019,879 (GRCm39) probably null Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
B3galnt2 T C 13: 14,170,378 (GRCm39) S243P probably benign Het
Brf1 A G 12: 112,937,083 (GRCm39) probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Ckap5 T C 2: 91,408,550 (GRCm39) I915T possibly damaging Het
Ckap5 T A 2: 91,446,185 (GRCm39) I1836N probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cramp1 A G 17: 25,191,350 (GRCm39) V1037A probably benign Het
Cspg5 C A 9: 110,075,600 (GRCm39) P112Q probably damaging Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
Hsdl1 T A 8: 120,292,517 (GRCm39) S254C probably damaging Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
Kif14 T C 1: 136,407,662 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lama3 T C 18: 12,537,039 (GRCm39) V228A probably damaging Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Luzp1 A G 4: 136,269,996 (GRCm39) K740E probably damaging Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Myo1a A G 10: 127,555,749 (GRCm39) I913V probably benign Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Or8d6 GC G 9: 39,854,119 (GRCm39) probably null Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Plec C T 15: 76,060,518 (GRCm39) E3162K probably damaging Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Scube2 A G 7: 109,446,115 (GRCm39) probably benign Het
Serpinb10 T A 1: 107,474,474 (GRCm39) L212Q probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Srek1 G A 13: 103,880,131 (GRCm39) H476Y unknown Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Timmdc1 A C 16: 38,342,724 (GRCm39) L58R probably damaging Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmem241 A T 18: 12,239,066 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null Het
Other mutations in Ephb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Ephb6 APN 6 41,592,845 (GRCm39) unclassified probably benign
IGL01691:Ephb6 APN 6 41,591,449 (GRCm39) missense probably benign 0.26
IGL02052:Ephb6 APN 6 41,590,256 (GRCm39) missense probably benign
IGL02079:Ephb6 APN 6 41,592,948 (GRCm39) missense possibly damaging 0.57
IGL03089:Ephb6 APN 6 41,591,108 (GRCm39) missense probably damaging 1.00
P4748:Ephb6 UTSW 6 41,594,219 (GRCm39) missense probably damaging 0.96
R0022:Ephb6 UTSW 6 41,591,503 (GRCm39) missense probably damaging 0.98
R0022:Ephb6 UTSW 6 41,591,503 (GRCm39) missense probably damaging 0.98
R0106:Ephb6 UTSW 6 41,596,528 (GRCm39) unclassified probably benign
R0973:Ephb6 UTSW 6 41,591,038 (GRCm39) missense probably damaging 0.98
R0973:Ephb6 UTSW 6 41,591,038 (GRCm39) missense probably damaging 0.98
R0974:Ephb6 UTSW 6 41,591,038 (GRCm39) missense probably damaging 0.98
R1465:Ephb6 UTSW 6 41,593,040 (GRCm39) missense probably damaging 1.00
R1465:Ephb6 UTSW 6 41,593,040 (GRCm39) missense probably damaging 1.00
R1610:Ephb6 UTSW 6 41,591,307 (GRCm39) nonsense probably null
R1658:Ephb6 UTSW 6 41,591,179 (GRCm39) missense probably damaging 1.00
R1687:Ephb6 UTSW 6 41,594,300 (GRCm39) missense probably benign 0.08
R1733:Ephb6 UTSW 6 41,596,654 (GRCm39) missense probably benign 0.10
R2191:Ephb6 UTSW 6 41,593,019 (GRCm39) missense possibly damaging 0.82
R2439:Ephb6 UTSW 6 41,595,669 (GRCm39) missense probably benign 0.31
R2915:Ephb6 UTSW 6 41,591,172 (GRCm39) missense probably damaging 1.00
R3020:Ephb6 UTSW 6 41,591,455 (GRCm39) missense probably damaging 1.00
R3499:Ephb6 UTSW 6 41,593,093 (GRCm39) nonsense probably null
R4606:Ephb6 UTSW 6 41,593,508 (GRCm39) missense probably benign 0.15
R4663:Ephb6 UTSW 6 41,594,799 (GRCm39) missense probably damaging 1.00
R4668:Ephb6 UTSW 6 41,591,536 (GRCm39) missense possibly damaging 0.91
R4762:Ephb6 UTSW 6 41,595,094 (GRCm39) missense probably damaging 0.99
R4767:Ephb6 UTSW 6 41,591,119 (GRCm39) missense possibly damaging 0.81
R4780:Ephb6 UTSW 6 41,593,073 (GRCm39) missense probably damaging 1.00
R4846:Ephb6 UTSW 6 41,593,743 (GRCm39) missense probably benign
R4851:Ephb6 UTSW 6 41,595,079 (GRCm39) missense probably benign 0.00
R5016:Ephb6 UTSW 6 41,595,041 (GRCm39) missense probably benign 0.01
R5122:Ephb6 UTSW 6 41,590,338 (GRCm39) missense probably benign 0.00
R5313:Ephb6 UTSW 6 41,593,727 (GRCm39) missense possibly damaging 0.68
R5615:Ephb6 UTSW 6 41,596,225 (GRCm39) missense probably benign
R5623:Ephb6 UTSW 6 41,593,415 (GRCm39) missense probably benign 0.20
R5686:Ephb6 UTSW 6 41,596,638 (GRCm39) missense possibly damaging 0.57
R5840:Ephb6 UTSW 6 41,592,507 (GRCm39) missense possibly damaging 0.94
R6147:Ephb6 UTSW 6 41,593,715 (GRCm39) missense probably damaging 1.00
R6645:Ephb6 UTSW 6 41,594,206 (GRCm39) missense probably benign 0.01
R6730:Ephb6 UTSW 6 41,594,308 (GRCm39) nonsense probably null
R7412:Ephb6 UTSW 6 41,597,173 (GRCm39) missense probably damaging 1.00
R7442:Ephb6 UTSW 6 41,594,981 (GRCm39) splice site probably null
R7759:Ephb6 UTSW 6 41,591,539 (GRCm39) missense probably benign 0.00
R7857:Ephb6 UTSW 6 41,590,331 (GRCm39) missense probably benign
R8425:Ephb6 UTSW 6 41,595,580 (GRCm39) missense probably damaging 0.98
R8697:Ephb6 UTSW 6 41,591,157 (GRCm39) missense probably damaging 0.99
R8898:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R8959:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R8961:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R8980:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R8989:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R8992:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R9065:Ephb6 UTSW 6 41,590,293 (GRCm39) missense probably benign
R9413:Ephb6 UTSW 6 41,591,509 (GRCm39) missense
R9512:Ephb6 UTSW 6 41,593,030 (GRCm39) missense possibly damaging 0.70
R9617:Ephb6 UTSW 6 41,596,258 (GRCm39) missense probably damaging 1.00
R9619:Ephb6 UTSW 6 41,594,249 (GRCm39) missense possibly damaging 0.72
R9705:Ephb6 UTSW 6 41,596,715 (GRCm39) missense probably benign 0.05
R9764:Ephb6 UTSW 6 41,592,911 (GRCm39) missense probably benign 0.01
X0027:Ephb6 UTSW 6 41,597,014 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- ATGAGCTATGGAGAACGGCCCTAC -3'
(R):5'- TGCGAATCATCTTGTCAAATGCAGC -3'

Sequencing Primer
(F):5'- CTGACATAGACCTTTGCTGATG -3'
(R):5'- TCTTGTCAAATGCAGCTACCAG -3'
Posted On 2013-07-30