Incidental Mutation 'R8260:Epha3'
ID 640042
Institutional Source Beutler Lab
Gene Symbol Epha3
Ensembl Gene ENSMUSG00000052504
Gene Name Eph receptor A3
Synonyms End3, Tyro4, Cek4, Hek, Hek4, Mek4
MMRRC Submission 067685-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # R8260 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 63363897-63684538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63403917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 728 (L728P)
Ref Sequence ENSEMBL: ENSMUSP00000066554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064405]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064405
AA Change: L728P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: L728P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik G C 14: 64,223,633 (GRCm39) L48V probably benign Het
Acbd3 T C 1: 180,566,095 (GRCm39) Y263H probably damaging Het
Acot4 C A 12: 84,088,809 (GRCm39) P219Q possibly damaging Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Ahcyl T C 16: 45,974,786 (GRCm39) E197G probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Arid1b A G 17: 5,382,788 (GRCm39) T1292A probably benign Het
Atp2c1 T A 9: 105,295,778 (GRCm39) I649F probably damaging Het
Bbs10 C T 10: 111,136,104 (GRCm39) Q406* probably null Het
Bcas3 T A 11: 85,400,372 (GRCm39) M447K possibly damaging Het
Bmal1 A T 7: 112,884,258 (GRCm39) I92F probably damaging Het
Cars1 T C 7: 143,139,446 (GRCm39) D214G probably benign Het
Ccdc88a A T 11: 29,443,934 (GRCm39) I1410F probably benign Het
Cd55b A T 1: 130,316,415 (GRCm39) L378H probably damaging Het
Cdh1 G A 8: 107,330,979 (GRCm39) E37K probably benign Het
Cep72 T C 13: 74,206,465 (GRCm39) Y119C probably damaging Het
Ctnnd2 A G 15: 30,634,879 (GRCm39) T176A possibly damaging Het
D630045J12Rik T A 6: 38,119,846 (GRCm39) probably null Het
Ddi1 A T 9: 6,265,524 (GRCm39) C282S probably damaging Het
Ddit4 T C 10: 59,787,277 (GRCm39) T20A probably benign Het
Dpp10 T A 1: 123,614,024 (GRCm39) T102S probably benign Het
Ep400 T A 5: 110,903,478 (GRCm39) K374* probably null Het
Fbxw21 C A 9: 108,975,614 (GRCm39) probably null Het
Frmpd1 A G 4: 45,244,638 (GRCm39) E109G probably damaging Het
Ggt1 C T 10: 75,417,245 (GRCm39) P332L probably damaging Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Gm5431 A T 11: 48,785,556 (GRCm39) I273K probably benign Het
Gon4l A G 3: 88,799,937 (GRCm39) N861D probably damaging Het
Grm5 T C 7: 87,724,340 (GRCm39) probably null Het
Helt T C 8: 46,745,745 (GRCm39) N84S possibly damaging Het
Hnrnpa0 G T 13: 58,275,228 (GRCm39) Y300* probably null Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Irf2bp1 C T 7: 18,740,079 (GRCm39) A573V possibly damaging Het
Itgbl1 C A 14: 124,065,246 (GRCm39) D133E probably benign Het
Kctd15 A G 7: 34,344,267 (GRCm39) F128S possibly damaging Het
Klra17 T A 6: 129,808,421 (GRCm39) N271Y probably damaging Het
Kmt2c T A 5: 25,610,514 (GRCm39) E197D possibly damaging Het
Larp1 C A 11: 57,949,515 (GRCm39) T1048K probably benign Het
Macf1 A G 4: 123,365,863 (GRCm39) V2966A probably benign Het
Magi3 A G 3: 103,922,625 (GRCm39) L1364P probably benign Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Med13l C T 5: 118,886,794 (GRCm39) T1565I possibly damaging Het
Mov10l1 A G 15: 88,896,313 (GRCm39) D719G probably benign Het
Mtcl3 T A 10: 29,024,270 (GRCm39) H395Q possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myh14 T C 7: 44,264,800 (GRCm39) E1654G probably damaging Het
Myo1c C T 11: 75,546,942 (GRCm39) probably benign Het
Myo9a A G 9: 59,817,961 (GRCm39) T2343A probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2ag18 A T 7: 106,405,234 (GRCm39) V145E possibly damaging Het
Or2d2b A T 7: 106,706,062 (GRCm39) M2K probably benign Het
Or4m1 T C 14: 50,557,615 (GRCm39) K226E probably benign Het
Or52m2 T A 7: 102,263,432 (GRCm39) I255F possibly damaging Het
Or52n5 T A 7: 104,587,879 (GRCm39) Y49N probably damaging Het
Or6c2 T A 10: 129,362,957 (GRCm39) I287N possibly damaging Het
Or8k53 T A 2: 86,177,276 (GRCm39) Y278F possibly damaging Het
Or9g3 A T 2: 85,589,820 (GRCm39) L300Q probably damaging Het
Osmr A T 15: 6,844,897 (GRCm39) D957E probably benign Het
Pappa T A 4: 65,234,419 (GRCm39) V1408E probably damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pdcd6ip A T 9: 113,501,865 (GRCm39) D464E probably benign Het
Pde1c T C 6: 56,114,404 (GRCm39) Y503C probably benign Het
Potefam3d A T 8: 69,972,400 (GRCm39) D116E possibly damaging Het
Prob1 T A 18: 35,787,210 (GRCm39) E348V possibly damaging Het
Rnls A G 19: 33,180,048 (GRCm39) L134S probably damaging Het
Scrn3 T C 2: 73,166,202 (GRCm39) Y412H probably damaging Het
Serpina3g T C 12: 104,205,362 (GRCm39) S34P probably benign Het
Sertad3 G A 7: 27,175,784 (GRCm39) A73T probably benign Het
Sez6l C T 5: 112,609,122 (GRCm39) A576T probably benign Het
Sh3tc2 G A 18: 62,146,137 (GRCm39) R1172H probably damaging Het
Sirt3 A G 7: 140,456,319 (GRCm39) V110A Het
Smpd3 A T 8: 106,984,047 (GRCm39) D557E probably benign Het
Sptssb A T 3: 69,728,305 (GRCm39) M44K probably damaging Het
Tars2 A G 3: 95,662,132 (GRCm39) W7R probably damaging Het
Tbc1d9b A G 11: 50,055,013 (GRCm39) D964G probably benign Het
Tiam2 A T 17: 3,568,594 (GRCm39) D1580V possibly damaging Het
Tmeff2 T A 1: 50,977,478 (GRCm39) V130D probably damaging Het
Top2a T A 11: 98,891,595 (GRCm39) E1176V probably null Het
Trappc9 C A 15: 72,813,758 (GRCm39) E680* probably null Het
Trip10 A G 17: 57,564,314 (GRCm39) N355S probably benign Het
Ttn T C 2: 76,596,337 (GRCm39) E20192G probably damaging Het
Vmn2r96 A G 17: 18,804,243 (GRCm39) M306V probably benign Het
Wdr90 A T 17: 26,064,141 (GRCm39) H1860Q probably damaging Het
Wrnip1 A G 13: 32,989,339 (GRCm39) I276V possibly damaging Het
Zfp608 T C 18: 55,030,821 (GRCm39) K1040E possibly damaging Het
Zfp808 T A 13: 62,320,552 (GRCm39) C594S probably benign 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
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
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'- TACTCACCCTGGTTGTGTAAGC -3'
(R):5'- TAGAGTACTGGGTAATGCAGCC -3'

Sequencing Primer
(F):5'- AAGCAGCTTCTGGGTCATC -3'
(R):5'- GCAGCCACATCAATTTTGCATTGG -3'
Posted On 2020-07-28