Incidental Mutation 'R5016:Ephb6'
ID 385573
Institutional Source Beutler Lab
Gene Symbol Ephb6
Ensembl Gene ENSMUSG00000029869
Gene Name Eph receptor B6
Synonyms Cekl, Mep
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # R5016 (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 41595041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 685 (R685Q)
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: R685Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: R685Q

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 0.0600 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T probably benign 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
R4846:Ephb6 UTSW 6 41,593,743 (GRCm39) missense probably benign
R4851:Ephb6 UTSW 6 41,595,079 (GRCm39) missense probably benign 0.00
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'- TACATACGATGACCCCTGCC -3'
(R):5'- TCTGTCAGCACCATGACAGG -3'

Sequencing Primer
(F):5'- CTCGAGAGGTTGACCCTACATATATC -3'
(R):5'- ATGACAGGCCGACTCTTAGTGAC -3'
Posted On 2016-05-10