Incidental Mutation 'R1936:Epha8'
ID 215784
Institutional Source Beutler Lab
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene Name Eph receptor A8
Synonyms Eek, Hek3, EphA8
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 136656730-136684127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136667554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 309 (D309G)
Ref Sequence ENSEMBL: ENSMUSP00000030420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030420]
AlphaFold O09127
Predicted Effect probably benign
Transcript: ENSMUST00000030420
AA Change: D309G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: D309G

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 0.0737 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
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'- AGATTCCAGGATTGTCAAGCTTC -3'
(R):5'- ACAGAGTAAAAGCTCCGTCCTC -3'

Sequencing Primer
(F):5'- TGCTGTAGTCACAGACAC -3'
(R):5'- AGCTCCGTCCTCCAGTACAG -3'
Posted On 2014-07-14