Incidental Mutation 'R2291:Epha8'
ID 244337
Institutional Source Beutler Lab
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene Name Eph receptor A8
Synonyms Eek, Hek3, EphA8
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 136656730-136684127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136660658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 687 (M687V)
Ref Sequence ENSEMBL: ENSMUSP00000030420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030420]
AlphaFold O09127
Predicted Effect probably damaging
Transcript: ENSMUST00000030420
AA Change: M687V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: M687V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EPH_lbd 30 203 2.59e-116 SMART
FN3 328 418 4.03e-6 SMART
FN3 439 520 1.67e-12 SMART
Pfam:EphA2_TM 542 631 5.8e-10 PFAM
TyrKc 634 891 1.03e-125 SMART
SAM 926 993 4.74e-19 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk2a T A 18: 61,097,031 (GRCm39) V38E probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Cltc G A 11: 86,624,448 (GRCm39) T158I probably benign Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plcb4 A T 2: 135,781,903 (GRCm39) Q241H probably benign Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Rgl1 C T 1: 152,412,032 (GRCm39) E446K probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Slc25a10 A T 11: 120,387,900 (GRCm39) I198L probably benign Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q probably damaging Het
Other mutations in Epha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Epha8 APN 4 136,673,121 (GRCm39) missense probably damaging 1.00
IGL00960:Epha8 APN 4 136,679,150 (GRCm39) splice site probably null
IGL01124:Epha8 APN 4 136,663,394 (GRCm39) missense probably damaging 1.00
IGL01550:Epha8 APN 4 136,659,051 (GRCm39) missense possibly damaging 0.87
IGL01807:Epha8 APN 4 136,658,993 (GRCm39) missense probably benign 0.08
IGL01844:Epha8 APN 4 136,658,360 (GRCm39) makesense probably null
IGL02167:Epha8 APN 4 136,658,405 (GRCm39) missense probably damaging 1.00
R0255:Epha8 UTSW 4 136,667,597 (GRCm39) missense probably damaging 0.99
R0445:Epha8 UTSW 4 136,659,711 (GRCm39) missense probably damaging 1.00
R1757:Epha8 UTSW 4 136,658,789 (GRCm39) splice site probably null
R1911:Epha8 UTSW 4 136,663,625 (GRCm39) missense probably damaging 1.00
R1936:Epha8 UTSW 4 136,667,554 (GRCm39) missense probably benign 0.08
R2359:Epha8 UTSW 4 136,673,343 (GRCm39) missense probably damaging 1.00
R2372:Epha8 UTSW 4 136,660,321 (GRCm39) missense probably damaging 1.00
R4581:Epha8 UTSW 4 136,660,775 (GRCm39) missense probably damaging 1.00
R4747:Epha8 UTSW 4 136,666,006 (GRCm39) frame shift probably null
R4784:Epha8 UTSW 4 136,660,633 (GRCm39) missense probably damaging 1.00
R5156:Epha8 UTSW 4 136,666,037 (GRCm39) missense probably benign 0.14
R5164:Epha8 UTSW 4 136,672,983 (GRCm39) missense possibly damaging 0.93
R5335:Epha8 UTSW 4 136,659,246 (GRCm39) missense probably damaging 1.00
R5480:Epha8 UTSW 4 136,662,441 (GRCm39) missense probably benign
R5552:Epha8 UTSW 4 136,659,210 (GRCm39) missense probably damaging 1.00
R5830:Epha8 UTSW 4 136,663,701 (GRCm39) nonsense probably null
R6017:Epha8 UTSW 4 136,659,054 (GRCm39) missense probably damaging 1.00
R6450:Epha8 UTSW 4 136,659,210 (GRCm39) missense probably damaging 1.00
R6798:Epha8 UTSW 4 136,672,980 (GRCm39) missense probably benign 0.00
R6799:Epha8 UTSW 4 136,672,980 (GRCm39) missense probably benign 0.00
R7060:Epha8 UTSW 4 136,658,469 (GRCm39) missense probably damaging 1.00
R7297:Epha8 UTSW 4 136,673,224 (GRCm39) missense probably damaging 1.00
R7344:Epha8 UTSW 4 136,661,849 (GRCm39) missense probably benign 0.14
R7467:Epha8 UTSW 4 136,658,399 (GRCm39) missense possibly damaging 0.90
R7563:Epha8 UTSW 4 136,666,100 (GRCm39) missense possibly damaging 0.77
R7826:Epha8 UTSW 4 136,663,498 (GRCm39) missense probably benign 0.09
R7845:Epha8 UTSW 4 136,663,712 (GRCm39) missense probably benign 0.04
R7863:Epha8 UTSW 4 136,660,966 (GRCm39) missense probably damaging 1.00
R7904:Epha8 UTSW 4 136,659,050 (GRCm39) missense possibly damaging 0.95
R7918:Epha8 UTSW 4 136,661,877 (GRCm39) missense probably benign 0.12
R8177:Epha8 UTSW 4 136,672,974 (GRCm39) missense probably benign 0.00
R8244:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8266:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8268:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8269:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8289:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8290:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8294:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8295:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8299:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8445:Epha8 UTSW 4 136,659,600 (GRCm39) missense probably benign 0.13
R8889:Epha8 UTSW 4 136,661,850 (GRCm39) missense probably benign 0.45
R8892:Epha8 UTSW 4 136,661,850 (GRCm39) missense probably benign 0.45
R8928:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8965:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8983:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8984:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R8988:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9081:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9231:Epha8 UTSW 4 136,673,226 (GRCm39) missense probably damaging 1.00
R9262:Epha8 UTSW 4 136,658,995 (GRCm39) missense probably benign
R9370:Epha8 UTSW 4 136,673,511 (GRCm39) missense possibly damaging 0.94
R9466:Epha8 UTSW 4 136,662,414 (GRCm39) missense probably benign
R9478:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9546:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9547:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9550:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9585:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9624:Epha8 UTSW 4 136,659,065 (GRCm39) missense probably damaging 1.00
R9686:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9687:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9690:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9744:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9763:Epha8 UTSW 4 136,665,897 (GRCm39) missense probably damaging 0.98
R9794:Epha8 UTSW 4 136,666,035 (GRCm39) missense probably benign 0.16
RF025:Epha8 UTSW 4 136,660,348 (GRCm39) critical splice acceptor site probably benign
RF054:Epha8 UTSW 4 136,660,348 (GRCm39) critical splice acceptor site probably benign
Z1176:Epha8 UTSW 4 136,666,007 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGATCATCTAGGGACCTGAG -3'
(R):5'- ATGGGAGCATACTGGAGCAC -3'

Sequencing Primer
(F):5'- TCATCTAGGGACCTGAGACATAGTG -3'
(R):5'- AGCATACTGGAGCACCTGGTG -3'
Posted On 2014-10-30