Incidental Mutation 'R0148:Epha3'
ID 60886
Institutional Source Beutler Lab
Gene Symbol Epha3
Ensembl Gene ENSMUSG00000052504
Gene Name Eph receptor A3
Synonyms End3, Tyro4, Cek4, Hek, Hek4, Mek4
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # R0148 (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 63433307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 446 (D446G)
Ref Sequence ENSEMBL: ENSMUSP00000155946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064405] [ENSMUST00000232049] [ENSMUST00000232461] [ENSMUST00000232654]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064405
AA Change: D446G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: D446G

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 possibly damaging
Transcript: ENSMUST00000232049
AA Change: D446G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000232461
AA Change: D145G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232654
AA Change: D446G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.0902 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly 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
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
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'- AGGTCACATGACCAGGTTATAAACAGC -3'
(R):5'- GAGCAGCTCAAGAGGCCAGATTAATAC -3'

Sequencing Primer
(F):5'- GCTCTACCACTGATAAGCAAGTATG -3'
(R):5'- TTAATACTCAAGAGCCCTGGAAGTG -3'
Posted On 2013-07-24