Incidental Mutation 'R5864:Epha2'
ID 454052
Institutional Source Beutler Lab
Gene Symbol Epha2
Ensembl Gene ENSMUSG00000006445
Gene Name Eph receptor A2
Synonyms Sek2, Eck, Myk2, Sek-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R5864 (G1)
Quality Score 180
Status Not validated
Chromosome 4
Chromosomal Location 141028551-141056695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141035738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 58 (M58K)
Ref Sequence ENSEMBL: ENSMUSP00000006614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006614]
AlphaFold Q03145
Predicted Effect probably damaging
Transcript: ENSMUST00000006614
AA Change: M58K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: M58K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EPH_lbd 27 200 1.31e-112 SMART
FN3 330 420 1.16e-6 SMART
FN3 437 517 3.73e-10 SMART
Pfam:EphA2_TM 538 611 5.9e-22 PFAM
TyrKc 614 872 2.23e-135 SMART
SAM 902 969 1.5e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145523
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
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. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal angiogenesis. Mice homozygous for a gene trap allele exhibit increased incidence of chemically-induced tumors, increased metastatic potential, and age-related cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A T 12: 84,090,178 (GRCm39) I292F probably benign Het
Adamdec1 A G 14: 68,807,551 (GRCm39) S370P probably damaging Het
Ankar T C 1: 72,698,324 (GRCm39) K692R probably benign Het
Ano6 T C 15: 95,818,261 (GRCm39) probably null Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Bbs12 C T 3: 37,373,639 (GRCm39) T144I probably damaging Het
C8g C T 2: 25,388,955 (GRCm39) G186D probably damaging Het
Clptm1l T C 13: 73,754,403 (GRCm39) F109S probably damaging Het
Coa8 G A 12: 111,717,652 (GRCm39) V171I probably benign Het
Col4a1 G A 8: 11,252,973 (GRCm39) probably benign Het
Cpn2 T C 16: 30,078,501 (GRCm39) D400G probably damaging Het
Dgke G C 11: 88,941,288 (GRCm39) Y298* probably null Het
Dnah5 G A 15: 28,297,159 (GRCm39) R1451Q possibly damaging Het
Dock8 A G 19: 25,038,584 (GRCm39) D90G probably damaging Het
Dok7 A C 5: 35,223,890 (GRCm39) D143A probably damaging Het
Elk3 G A 10: 93,120,653 (GRCm39) A62V probably damaging Het
Erp27 G T 6: 136,885,098 (GRCm39) D233E probably benign Het
Gm5174 T A 10: 86,493,045 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,107 (GRCm39) D214G probably damaging Het
Hrob G A 11: 102,145,972 (GRCm39) E83K probably benign Het
Ifi35 A T 11: 101,349,069 (GRCm39) I238F probably damaging Het
Ighmbp2 T C 19: 3,311,467 (GRCm39) T983A probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Lrp1 C A 10: 127,403,374 (GRCm39) K2066N possibly damaging Het
Mansc1 T G 6: 134,587,816 (GRCm39) probably null Het
Mapre3 T C 5: 31,020,582 (GRCm39) F101S probably damaging Het
Mettl8 T C 2: 70,812,357 (GRCm39) T58A probably benign Het
Mical1 G T 10: 41,362,064 (GRCm39) R857L possibly damaging Het
Nacad T C 11: 6,550,581 (GRCm39) D870G probably benign Het
Nectin1 A G 9: 43,702,607 (GRCm39) D118G probably damaging Het
Nlrp2 A T 7: 5,325,380 (GRCm39) L26Q probably damaging Het
Or10a3m A G 7: 108,312,671 (GRCm39) D25G probably benign Het
Pamr1 T C 2: 102,464,693 (GRCm39) S281P possibly damaging Het
Pcdhgc5 T A 18: 37,954,814 (GRCm39) V696E probably damaging Het
Pde4d G T 13: 110,074,582 (GRCm39) A396S probably benign Het
Pecam1 G T 11: 106,575,076 (GRCm39) C510* probably null Het
Pga5 C T 19: 10,652,513 (GRCm39) G76S probably damaging Het
Phldb3 A T 7: 24,323,571 (GRCm39) H435L possibly damaging Het
Piezo1 T C 8: 123,213,112 (GRCm39) R1884G possibly damaging Het
Ripk4 T C 16: 97,564,782 (GRCm39) H43R probably damaging Het
Rtn3 A G 19: 7,412,476 (GRCm39) V785A probably damaging Het
Safb2 A G 17: 56,873,491 (GRCm39) probably benign Het
Sephs1 T C 2: 4,910,393 (GRCm39) F288L probably damaging Het
Sez6l A G 5: 112,586,266 (GRCm39) probably null Het
Siglece A G 7: 43,308,741 (GRCm39) L204P probably damaging Het
Sis T C 3: 72,857,151 (GRCm39) D380G probably damaging Het
Slamf9 G T 1: 172,304,033 (GRCm39) R126L probably benign Het
Sorl1 A G 9: 42,003,669 (GRCm39) L209P probably damaging Het
Sptbn1 A C 11: 30,095,925 (GRCm39) I310S probably damaging Het
Tex52 A G 6: 128,356,645 (GRCm39) T113A probably benign Het
Trav6-3 T A 14: 53,667,628 (GRCm39) Y33* probably null Het
Vmn2r102 A G 17: 19,914,943 (GRCm39) E836G possibly damaging Het
Wdsub1 C T 2: 59,708,819 (GRCm39) C18Y probably damaging Het
Zfp341 C A 2: 154,485,474 (GRCm39) H637N possibly damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zfp612 G A 8: 110,816,358 (GRCm39) D522N probably damaging Het
Other mutations in Epha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Epha2 APN 4 141,045,835 (GRCm39) missense probably damaging 1.00
IGL02812:Epha2 APN 4 141,046,230 (GRCm39) splice site probably benign
IGL03377:Epha2 APN 4 141,049,723 (GRCm39) missense probably benign 0.08
R0165:Epha2 UTSW 4 141,049,203 (GRCm39) critical splice donor site probably null
R0321:Epha2 UTSW 4 141,035,716 (GRCm39) missense probably damaging 1.00
R1584:Epha2 UTSW 4 141,049,358 (GRCm39) splice site probably null
R1586:Epha2 UTSW 4 141,045,916 (GRCm39) splice site probably benign
R1695:Epha2 UTSW 4 141,033,828 (GRCm39) missense possibly damaging 0.74
R1721:Epha2 UTSW 4 141,049,963 (GRCm39) missense probably damaging 1.00
R1731:Epha2 UTSW 4 141,049,063 (GRCm39) missense possibly damaging 0.81
R1813:Epha2 UTSW 4 141,035,857 (GRCm39) missense possibly damaging 0.86
R1875:Epha2 UTSW 4 141,036,290 (GRCm39) missense probably benign 0.02
R2226:Epha2 UTSW 4 141,048,548 (GRCm39) missense probably damaging 1.00
R2314:Epha2 UTSW 4 141,046,325 (GRCm39) missense probably damaging 1.00
R2342:Epha2 UTSW 4 141,050,842 (GRCm39) missense probably benign 0.00
R3872:Epha2 UTSW 4 141,035,716 (GRCm39) missense probably damaging 1.00
R3927:Epha2 UTSW 4 141,033,861 (GRCm39) missense probably damaging 1.00
R4688:Epha2 UTSW 4 141,046,292 (GRCm39) missense probably benign
R4795:Epha2 UTSW 4 141,049,727 (GRCm39) splice site probably null
R4974:Epha2 UTSW 4 141,049,016 (GRCm39) missense probably damaging 0.99
R5055:Epha2 UTSW 4 141,036,380 (GRCm39) missense probably benign 0.09
R5123:Epha2 UTSW 4 141,036,176 (GRCm39) missense possibly damaging 0.71
R5424:Epha2 UTSW 4 141,046,251 (GRCm39) nonsense probably null
R5522:Epha2 UTSW 4 141,035,867 (GRCm39) missense probably damaging 1.00
R5657:Epha2 UTSW 4 141,050,805 (GRCm39) missense probably damaging 1.00
R5717:Epha2 UTSW 4 141,049,382 (GRCm39) missense probably benign
R6151:Epha2 UTSW 4 141,045,791 (GRCm39) critical splice acceptor site probably null
R6244:Epha2 UTSW 4 141,044,223 (GRCm39) missense probably benign 0.00
R6288:Epha2 UTSW 4 141,044,344 (GRCm39) missense probably benign 0.01
R6696:Epha2 UTSW 4 141,048,850 (GRCm39) missense probably benign
R6817:Epha2 UTSW 4 141,036,305 (GRCm39) missense probably damaging 0.98
R6875:Epha2 UTSW 4 141,055,779 (GRCm39) missense probably damaging 1.00
R6910:Epha2 UTSW 4 141,048,824 (GRCm39) missense probably damaging 1.00
R6925:Epha2 UTSW 4 141,036,068 (GRCm39) missense probably benign
R7330:Epha2 UTSW 4 141,035,764 (GRCm39) missense probably benign 0.00
R7977:Epha2 UTSW 4 141,035,791 (GRCm39) missense probably damaging 1.00
R7987:Epha2 UTSW 4 141,035,791 (GRCm39) missense probably damaging 1.00
R8081:Epha2 UTSW 4 141,049,605 (GRCm39) missense probably damaging 1.00
R9095:Epha2 UTSW 4 141,044,012 (GRCm39) missense possibly damaging 0.95
R9696:Epha2 UTSW 4 141,047,834 (GRCm39) missense probably benign 0.00
R9737:Epha2 UTSW 4 141,045,814 (GRCm39) missense probably benign 0.10
RF024:Epha2 UTSW 4 141,050,717 (GRCm39) critical splice acceptor site unknown
Z1177:Epha2 UTSW 4 141,046,309 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTTCCCTGTAGAATGAAGGC -3'
(R):5'- GTCTCTTTGCATGAGCTGGC -3'

Sequencing Primer
(F):5'- TCCCTCAGGACACAGTGAGTTTG -3'
(R):5'- CATGAGCTGGCGCCACC -3'
Posted On 2017-02-10