Incidental Mutation 'R5156:Epha8'
ID 396720
Institutional Source Beutler Lab
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene Name Eph receptor A8
Synonyms Eek, Hek3, EphA8
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 136656730-136684127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136666037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 373 (S373N)
Ref Sequence ENSEMBL: ENSMUSP00000030420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030420]
AlphaFold O09127
Predicted Effect probably benign
Transcript: ENSMUST00000030420
AA Change: S373N

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: S373N

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
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T probably benign 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
R2291:Epha8 UTSW 4 136,660,658 (GRCm39) missense probably damaging 1.00
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
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'- TGGTGATGTTGACCACAGC -3'
(R):5'- AGTTTCTTAGTTAAGAGGCCCC -3'

Sequencing Primer
(F):5'- ATGTTGACCACAGCAGCGC -3'
(R):5'- TTCTTAGTTAAGAGGCCCCCAGATAC -3'
Posted On 2016-06-21