Incidental Mutation 'R1803:Epha3'
ID 203331
Institutional Source Beutler Lab
Gene Symbol Epha3
Ensembl Gene ENSMUSG00000052504
Gene Name Eph receptor A3
Synonyms End3, Tyro4, Cek4, Hek, Hek4, Mek4
MMRRC Submission 039833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R1803 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 63363897-63684538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63422651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 579 (K579E)
Ref Sequence ENSEMBL: ENSMUSP00000155946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064405] [ENSMUST00000232049]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064405
AA Change: K580E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: K580E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EPH_lbd 29 202 1.76e-127 SMART
Pfam:GCC2_GCC3 263 306 6.6e-9 PFAM
FN3 326 418 1.14e-5 SMART
FN3 437 518 4.8e-13 SMART
Pfam:EphA2_TM 543 619 8.2e-25 PFAM
TyrKc 622 879 5.16e-140 SMART
SAM 909 976 1.08e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232049
AA Change: K579E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to 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. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
Grk2 C T 19: 4,344,911 (GRCm39) V53M probably damaging Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sema4g T C 19: 44,986,459 (GRCm39) V345A probably benign Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E probably damaging Het
Other mutations in Epha3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Epha3 APN 16 63,387,047 (GRCm39) missense probably damaging 1.00
IGL01358:Epha3 APN 16 63,416,109 (GRCm39) splice site probably benign
IGL01713:Epha3 APN 16 63,372,925 (GRCm39) missense probably benign 0.00
IGL02371:Epha3 APN 16 63,405,383 (GRCm39) critical splice acceptor site probably null
IGL03111:Epha3 APN 16 63,473,809 (GRCm39) missense probably damaging 0.98
IGL03208:Epha3 APN 16 63,431,452 (GRCm39) missense probably damaging 1.00
laterality UTSW 16 63,388,762 (GRCm39) missense probably damaging 1.00
midline UTSW 16 63,664,507 (GRCm39) missense possibly damaging 0.46
stride UTSW 16 63,372,857 (GRCm39) missense probably benign 0.00
F2404:Epha3 UTSW 16 63,366,531 (GRCm39) missense probably benign 0.14
P0041:Epha3 UTSW 16 63,433,231 (GRCm39) missense probably damaging 1.00
PIT4498001:Epha3 UTSW 16 63,372,889 (GRCm39) missense probably damaging 1.00
PIT4585001:Epha3 UTSW 16 63,386,940 (GRCm39) critical splice donor site probably null
R0147:Epha3 UTSW 16 63,433,307 (GRCm39) missense possibly damaging 0.89
R0148:Epha3 UTSW 16 63,433,307 (GRCm39) missense possibly damaging 0.89
R0336:Epha3 UTSW 16 63,387,011 (GRCm39) missense probably damaging 1.00
R0738:Epha3 UTSW 16 63,415,975 (GRCm39) missense probably damaging 1.00
R0833:Epha3 UTSW 16 63,423,882 (GRCm39) splice site probably benign
R0836:Epha3 UTSW 16 63,423,882 (GRCm39) splice site probably benign
R0969:Epha3 UTSW 16 63,386,999 (GRCm39) missense probably damaging 1.00
R1160:Epha3 UTSW 16 63,593,431 (GRCm39) missense probably damaging 1.00
R1205:Epha3 UTSW 16 63,418,611 (GRCm39) frame shift probably null
R1349:Epha3 UTSW 16 63,431,416 (GRCm39) missense possibly damaging 0.89
R1372:Epha3 UTSW 16 63,431,416 (GRCm39) missense possibly damaging 0.89
R1469:Epha3 UTSW 16 63,473,857 (GRCm39) missense probably damaging 0.97
R1469:Epha3 UTSW 16 63,473,857 (GRCm39) missense probably damaging 0.97
R1500:Epha3 UTSW 16 63,416,025 (GRCm39) missense probably benign 0.06
R1523:Epha3 UTSW 16 63,431,311 (GRCm39) missense probably damaging 0.99
R1532:Epha3 UTSW 16 63,366,541 (GRCm39) missense probably benign 0.08
R1544:Epha3 UTSW 16 63,593,416 (GRCm39) missense probably damaging 1.00
R1681:Epha3 UTSW 16 63,416,091 (GRCm39) missense probably damaging 1.00
R1708:Epha3 UTSW 16 63,403,870 (GRCm39) missense probably damaging 1.00
R1893:Epha3 UTSW 16 63,388,762 (GRCm39) missense probably damaging 1.00
R1957:Epha3 UTSW 16 63,593,315 (GRCm39) missense probably benign 0.00
R2144:Epha3 UTSW 16 63,593,680 (GRCm39) missense possibly damaging 0.86
R2190:Epha3 UTSW 16 63,366,552 (GRCm39) missense probably benign 0.05
R2198:Epha3 UTSW 16 63,664,507 (GRCm39) missense possibly damaging 0.46
R2344:Epha3 UTSW 16 63,472,746 (GRCm39) missense possibly damaging 0.67
R2504:Epha3 UTSW 16 63,423,988 (GRCm39) missense probably damaging 0.97
R2911:Epha3 UTSW 16 63,472,775 (GRCm39) missense probably benign
R3889:Epha3 UTSW 16 63,431,327 (GRCm39) missense probably damaging 1.00
R4223:Epha3 UTSW 16 63,403,902 (GRCm39) missense probably damaging 0.99
R4836:Epha3 UTSW 16 63,403,920 (GRCm39) missense probably damaging 1.00
R4981:Epha3 UTSW 16 63,472,775 (GRCm39) missense probably benign 0.04
R5044:Epha3 UTSW 16 63,422,650 (GRCm39) missense possibly damaging 0.79
R5195:Epha3 UTSW 16 63,366,510 (GRCm39) missense possibly damaging 0.86
R5248:Epha3 UTSW 16 63,418,620 (GRCm39) missense probably damaging 1.00
R5478:Epha3 UTSW 16 63,403,896 (GRCm39) missense probably damaging 1.00
R6052:Epha3 UTSW 16 63,423,967 (GRCm39) missense possibly damaging 0.94
R6167:Epha3 UTSW 16 63,433,287 (GRCm39) missense probably benign 0.00
R6337:Epha3 UTSW 16 63,388,806 (GRCm39) missense probably damaging 1.00
R6342:Epha3 UTSW 16 63,403,863 (GRCm39) missense probably damaging 1.00
R6793:Epha3 UTSW 16 63,593,818 (GRCm39) missense probably benign 0.01
R6908:Epha3 UTSW 16 63,418,612 (GRCm39) missense probably damaging 1.00
R7029:Epha3 UTSW 16 63,593,698 (GRCm39) missense probably benign 0.37
R7059:Epha3 UTSW 16 63,388,818 (GRCm39) missense probably damaging 1.00
R7175:Epha3 UTSW 16 63,403,863 (GRCm39) missense probably damaging 1.00
R7204:Epha3 UTSW 16 63,472,695 (GRCm39) missense probably benign
R7217:Epha3 UTSW 16 63,372,857 (GRCm39) missense probably benign 0.00
R7315:Epha3 UTSW 16 63,372,972 (GRCm39) missense probably benign 0.00
R7389:Epha3 UTSW 16 63,593,347 (GRCm39) missense probably damaging 1.00
R7419:Epha3 UTSW 16 63,418,657 (GRCm39) missense probably damaging 1.00
R7572:Epha3 UTSW 16 63,431,443 (GRCm39) nonsense probably null
R7667:Epha3 UTSW 16 63,386,963 (GRCm39) missense probably benign 0.21
R7686:Epha3 UTSW 16 63,593,651 (GRCm39) missense probably damaging 1.00
R7855:Epha3 UTSW 16 63,593,923 (GRCm39) missense probably damaging 1.00
R8085:Epha3 UTSW 16 63,403,873 (GRCm39) missense probably damaging 1.00
R8167:Epha3 UTSW 16 63,388,804 (GRCm39) missense probably damaging 1.00
R8260:Epha3 UTSW 16 63,403,917 (GRCm39) missense probably damaging 1.00
R8290:Epha3 UTSW 16 63,472,859 (GRCm39) missense possibly damaging 0.94
R8298:Epha3 UTSW 16 63,386,961 (GRCm39) missense probably benign 0.16
R8350:Epha3 UTSW 16 63,472,853 (GRCm39) missense possibly damaging 0.91
R8450:Epha3 UTSW 16 63,472,853 (GRCm39) missense possibly damaging 0.91
R8470:Epha3 UTSW 16 63,664,510 (GRCm39) missense probably benign 0.00
R8478:Epha3 UTSW 16 63,593,444 (GRCm39) missense probably damaging 1.00
R8724:Epha3 UTSW 16 63,403,818 (GRCm39) missense probably damaging 1.00
R8862:Epha3 UTSW 16 63,431,348 (GRCm39) missense probably benign
R8921:Epha3 UTSW 16 63,472,838 (GRCm39) missense possibly damaging 0.81
R9519:Epha3 UTSW 16 63,472,668 (GRCm39) missense possibly damaging 0.77
R9563:Epha3 UTSW 16 63,366,510 (GRCm39) missense possibly damaging 0.86
R9795:Epha3 UTSW 16 63,372,910 (GRCm39) missense probably benign 0.00
Z1176:Epha3 UTSW 16 63,405,375 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTGAAACACCTCCATGGAG -3'
(R):5'- CATTAGGCAACCTTCCAGGGTAC -3'

Sequencing Primer
(F):5'- CACCTCCATGGAGAAAACATTTC -3'
(R):5'- TTCAGGGGAAAGCTTGAG -3'
Posted On 2014-06-23