Incidental Mutation 'R1349:Epha3'
ID 156625
Institutional Source Beutler Lab
Gene Symbol Epha3
Ensembl Gene ENSMUSG00000052504
Gene Name Eph receptor A3
Synonyms End3, Tyro4, Cek4, Hek, Hek4, Mek4
MMRRC Submission 039414-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # R1349 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 63363897-63684538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63431416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 495 (I495T)
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 possibly damaging
Transcript: ENSMUST00000064405
AA Change: I496T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: I496T

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: I495T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232461
AA Change: I195T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232654
AA Change: I496T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.2786 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.8%
Validation Efficiency 98% (46/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik G A 8: 125,587,992 (GRCm39) T36I possibly damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Ccdc157 A T 11: 4,099,056 (GRCm39) I48N probably benign Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cecr2 G A 6: 120,734,564 (GRCm39) G613E probably damaging Het
Clspn C T 4: 126,457,770 (GRCm39) A98V probably benign Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dbpht2 C CNNNNNNNNNNNNNNNNNN 12: 74,345,836 (GRCm39) noncoding transcript Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dmxl1 A T 18: 50,021,920 (GRCm39) N1612Y probably damaging Het
Frem1 T C 4: 82,840,542 (GRCm39) probably benign Het
Glipr1 A G 10: 111,829,437 (GRCm39) V108A probably benign Het
Gpatch2l T C 12: 86,307,483 (GRCm39) L287P possibly damaging Het
Hp T G 8: 110,301,938 (GRCm39) K337Q probably benign Het
Htr1a T A 13: 105,581,874 (GRCm39) C371* probably null Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Map4k4 C A 1: 40,060,319 (GRCm39) P1103Q probably damaging Het
Mybph T C 1: 134,121,353 (GRCm39) S38P probably benign Het
Myo1e T G 9: 70,194,351 (GRCm39) probably benign Het
Nefh T TNNNNNNNNNNNNNNNNNN 11: 4,891,010 (GRCm39) probably benign Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Slc6a7 C T 18: 61,133,615 (GRCm39) G527D probably benign Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tgm1 A G 14: 55,948,658 (GRCm39) probably benign Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Togaram1 T A 12: 65,057,919 (GRCm39) M1502K probably damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Vmn2r102 A T 17: 19,880,887 (GRCm39) probably benign Het
Vmn2r12 T C 5: 109,234,452 (GRCm39) M587V probably benign Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Wdr35 A T 12: 9,069,870 (GRCm39) probably benign Het
Wdr73 C A 7: 80,543,000 (GRCm39) V176L 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
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'- ACCTTCAGTGCATGACCTTTGGC -3'
(R):5'- TTTTCTGTGCAAGAGGTAATTCATCCCA -3'

Sequencing Primer
(F):5'- TGCAACGCCCCACATTTT -3'
(R):5'- GCAAGAGGTAATTCATCCCATATAG -3'
Posted On 2014-02-11