Incidental Mutation 'R4846:Ephb6'
ID 372159
Institutional Source Beutler Lab
Gene Symbol Ephb6
Ensembl Gene ENSMUSG00000029869
Gene Name Eph receptor B6
Synonyms Cekl, Mep
MMRRC Submission 042459-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # R4846 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41582416-41597443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41593743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 542 (R542Q)
Ref Sequence ENSEMBL: ENSMUSP00000110380 (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
AA Change: R542Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: R542Q

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 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,393,392 (GRCm39) H299L probably damaging Het
Abcb4 C T 5: 8,985,180 (GRCm39) A687V probably benign Het
Abtb3 A G 10: 85,465,130 (GRCm39) T657A probably damaging Het
Adam20 A G 8: 41,248,048 (GRCm39) T53A probably benign Het
Afg1l G A 10: 42,330,490 (GRCm39) T59I probably benign Het
AI837181 A G 19: 5,476,329 (GRCm39) Q164R probably benign Het
Anapc15 T A 7: 101,546,974 (GRCm39) I12N probably benign Het
Ankrd55 A C 13: 112,499,988 (GRCm39) E278D probably benign Het
Axin2 A G 11: 108,833,125 (GRCm39) T437A probably benign Het
BC051665 T C 13: 60,931,895 (GRCm39) D168G probably damaging Het
Cd200 C T 16: 45,212,664 (GRCm39) R261H probably benign Het
Clk1 G A 1: 58,460,261 (GRCm39) S123L probably benign Het
Csrnp2 A T 15: 100,382,571 (GRCm39) D156E probably damaging Het
Ctss C T 3: 95,452,695 (GRCm39) Q159* probably null Het
Dennd2b C A 7: 109,156,043 (GRCm39) E236* probably null Het
Dip2a A G 10: 76,157,327 (GRCm39) S93P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Fmo3 T C 1: 162,781,880 (GRCm39) D491G possibly damaging Het
Galnt14 A T 17: 73,843,888 (GRCm39) M140K probably benign Het
Ghsr T C 3: 27,425,986 (GRCm39) V14A probably benign Het
Gm17546 C A 15: 95,727,843 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hc A G 2: 34,909,682 (GRCm39) V866A probably benign Het
Hoxb6 G A 11: 96,190,348 (GRCm39) G116R probably damaging Het
Hykk A G 9: 54,827,890 (GRCm39) Y43C probably damaging Het
Jade2 T C 11: 51,711,975 (GRCm39) T495A probably benign Het
Kansl1 A T 11: 104,233,798 (GRCm39) V755E possibly damaging Het
Lrp2 T A 2: 69,309,457 (GRCm39) D2814V probably damaging Het
Mbd5 T A 2: 49,147,009 (GRCm39) N406K probably damaging Het
Met A T 6: 17,491,928 (GRCm39) D230V probably damaging Het
Mrgprx2 A T 7: 48,132,584 (GRCm39) V78D probably damaging Het
Mrpl20 A G 4: 155,892,993 (GRCm39) T112A possibly damaging Het
Nek11 T A 9: 105,040,362 (GRCm39) E566D probably damaging Het
Nostrin T C 2: 69,005,923 (GRCm39) S235P probably damaging Het
Npas4 C A 19: 5,036,805 (GRCm39) S453I probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Psg18 A T 7: 18,084,711 (GRCm39) Y128* probably null Het
Ptges3l A T 11: 101,310,010 (GRCm39) probably benign Het
Pus1 T C 5: 110,927,796 (GRCm39) probably benign Het
Raf1 T A 6: 115,621,544 (GRCm39) S12C possibly damaging Het
Rps6-ps2 T G 8: 89,533,206 (GRCm39) noncoding transcript Het
Slc5a4b A G 10: 75,898,073 (GRCm39) L547P probably damaging Het
Socs3 A G 11: 117,858,654 (GRCm39) S135P probably benign Het
Spata31d1e T C 13: 59,890,047 (GRCm39) D591G probably benign Het
Stra6l G A 4: 45,873,682 (GRCm39) V281M possibly damaging Het
Suco G A 1: 161,661,977 (GRCm39) T818I possibly damaging Het
Syde1 A T 10: 78,424,731 (GRCm39) V367D probably damaging Het
Tet3 A T 6: 83,353,865 (GRCm39) L932* probably null Het
Trpm7 G A 2: 126,655,105 (GRCm39) L1278F possibly damaging Het
Vmn1r168 A T 7: 23,240,490 (GRCm39) T116S probably damaging Het
Wfdc6b A G 2: 164,459,214 (GRCm39) Q92R possibly damaging 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
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
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'- TGCGCTACTATGACCAGGTG -3'
(R):5'- TTCTCAGACACTCTGGTCTGG -3'

Sequencing Primer
(F):5'- CTGAGCAGAACTAGTGAAAGCTCTC -3'
(R):5'- TCAGACACTCTGGTCTGGAGGAC -3'
Posted On 2016-03-01