Incidental Mutation 'R1500:Epha3'
ID 169222
Institutional Source Beutler Lab
Gene Symbol Epha3
Ensembl Gene ENSMUSG00000052504
Gene Name Eph receptor A3
Synonyms End3, Tyro4, Cek4, Hek, Hek4, Mek4
MMRRC Submission 039551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R1500 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 63363897-63684538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63416025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 658 (V658E)
Ref Sequence ENSEMBL: ENSMUSP00000066554 (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: V658E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: V658E

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: V657E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 95% (81/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,330,253 (GRCm39) D518G probably benign Het
Acaca T A 11: 84,184,810 (GRCm39) D96E probably benign Het
Actbl2 G A 13: 111,391,854 (GRCm39) R63Q probably damaging Het
Adamts6 T A 13: 104,449,389 (GRCm39) H266Q probably damaging Het
Aff4 T C 11: 53,263,205 (GRCm39) V75A probably benign Het
Ank2 A G 3: 126,726,631 (GRCm39) S888P probably benign Het
Ano7 T C 1: 93,325,050 (GRCm39) F534S probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bcam T A 7: 19,492,889 (GRCm39) D484V possibly damaging Het
Bltp2 C A 11: 78,174,958 (GRCm39) Q1698K possibly damaging Het
Ccdc88a T C 11: 29,432,713 (GRCm39) Y1240H probably benign Het
Cfh T C 1: 140,028,614 (GRCm39) Y500C probably damaging Het
Chd1l G A 3: 97,490,121 (GRCm39) A478V probably benign Het
Dnah1 T C 14: 31,038,715 (GRCm39) D122G probably benign Het
Dnah11 A T 12: 117,976,564 (GRCm39) probably null Het
Dnah17 T C 11: 117,991,879 (GRCm39) K1230E probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
E330020D12Rik A T 1: 153,284,125 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,462,992 (GRCm39) L639P probably damaging Het
Erbb2 C T 11: 98,319,804 (GRCm39) T632I probably damaging Het
Erc2 A G 14: 27,993,617 (GRCm39) T883A probably damaging Het
Extl2 T C 3: 115,820,789 (GRCm39) V198A probably benign Het
Fktn G T 4: 53,735,065 (GRCm39) M234I probably benign Het
Ggt7 A G 2: 155,340,966 (GRCm39) S400P probably benign Het
Gldc A C 19: 30,091,225 (GRCm39) V790G possibly damaging Het
Gm14496 A C 2: 181,633,026 (GRCm39) Q3P probably benign Het
H2-D1 G A 17: 35,482,564 (GRCm39) E95K probably benign Het
Ikzf3 T C 11: 98,409,521 (GRCm39) E14G probably benign Het
Jag1 A T 2: 136,957,558 (GRCm39) N51K possibly damaging Het
Khdrbs3 A G 15: 68,800,635 (GRCm39) D14G possibly damaging Het
Krt84 A G 15: 101,438,659 (GRCm39) V276A probably damaging Het
Lamb1 T C 12: 31,348,948 (GRCm39) I660T possibly damaging Het
Lcmt2 A T 2: 120,970,488 (GRCm39) S198R probably benign Het
Lcn6 G A 2: 25,567,131 (GRCm39) R44H probably benign Het
Lrfn5 A T 12: 61,886,527 (GRCm39) H105L probably damaging Het
Lrit1 G A 14: 36,784,091 (GRCm39) R473K probably benign Het
Marchf1 A G 8: 66,921,042 (GRCm39) T495A probably damaging Het
Marveld3 T G 8: 110,675,174 (GRCm39) probably null Het
Mbd3 T C 10: 80,230,420 (GRCm39) D160G possibly damaging Het
Mrc2 T G 11: 105,238,551 (GRCm39) C1233G probably damaging Het
Ms4a13 T G 19: 11,161,225 (GRCm39) T105P probably damaging Het
Mtbp T C 15: 55,480,951 (GRCm39) Y306H probably damaging Het
Muc3a T C 5: 137,244,958 (GRCm39) probably benign Het
Myo1g T A 11: 6,470,811 (GRCm39) Y15F probably benign Het
Nae1 A T 8: 105,250,216 (GRCm39) Y226N probably benign Het
Nlrp9a A G 7: 26,267,316 (GRCm39) S715G probably benign Het
Or1j10 A T 2: 36,267,633 (GRCm39) M282L probably benign Het
Or2ag17 T C 7: 106,390,028 (GRCm39) Y60C probably damaging Het
Or4s2b T A 2: 88,508,219 (GRCm39) S7T possibly damaging Het
Or7g26 A T 9: 19,230,612 (GRCm39) S267C probably damaging Het
Or8g55 G T 9: 39,784,707 (GRCm39) M45I probably benign Het
Pex5l T C 3: 33,069,129 (GRCm39) T123A probably damaging Het
Pip5kl1 A T 2: 32,466,691 (GRCm39) N62I probably benign Het
Pkhd1l1 T C 15: 44,408,890 (GRCm39) V2459A probably damaging Het
Prb1a T A 6: 132,184,439 (GRCm39) Q398L unknown Het
Prkab2 T C 3: 97,571,263 (GRCm39) L165S probably damaging Het
Prl3d2 C G 13: 27,305,689 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,143,472 (GRCm39) G435D probably benign Het
Qrfpr A G 3: 36,236,729 (GRCm39) L224P probably damaging Het
Rasl2-9 C T 7: 5,128,441 (GRCm39) W163* probably null Het
Rgs5 A G 1: 169,517,983 (GRCm39) probably null Het
Rnf19b T C 4: 128,972,754 (GRCm39) L255P probably damaging Het
Rp9 A C 9: 22,368,751 (GRCm39) N69K probably damaging Het
Sh3bp4 G T 1: 89,073,210 (GRCm39) S686I probably damaging Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Spp2 C A 1: 88,340,015 (GRCm39) Q5K possibly damaging Het
Svep1 C T 4: 58,070,239 (GRCm39) G2516R probably damaging Het
Syncrip A C 9: 88,361,949 (GRCm39) S55R probably damaging Het
Tacc3 T C 5: 33,818,652 (GRCm39) L29P probably damaging Het
Tex15 A G 8: 34,065,120 (GRCm39) T1517A probably damaging Het
Tmem140 A G 6: 34,849,660 (GRCm39) M59V probably benign Het
Ttn G T 2: 76,575,872 (GRCm39) A25007E probably damaging Het
Ubr2 T C 17: 47,297,615 (GRCm39) T253A possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usp38 A G 8: 81,722,399 (GRCm39) L374P probably damaging Het
Vmn1r42 T A 6: 89,822,483 (GRCm39) I29L probably benign Het
Vmn2r94 C T 17: 18,477,242 (GRCm39) V390M probably benign Het
Vmp1 A G 11: 86,552,026 (GRCm39) Y113H possibly damaging Het
Wdr20 T C 12: 110,760,464 (GRCm39) M450T probably benign Het
Ylpm1 T C 12: 85,061,770 (GRCm39) V557A unknown Het
Zpld1 T C 16: 55,053,935 (GRCm39) N286D 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
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
R1803:Epha3 UTSW 16 63,422,651 (GRCm39) missense probably benign 0.00
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'- CAGAGACCCTCGCTGCATTTAACC -3'
(R):5'- ACCCACTGAGCTATCTACTTACCCG -3'

Sequencing Primer
(F):5'- TCAGTTAGAACCAAGCTACTTGC -3'
(R):5'- CGGCCGCTTAAAACTTCCT -3'
Posted On 2014-04-13