Incidental Mutation 'R0165:Epha2'
ID 24097
Institutional Source Beutler Lab
Gene Symbol Epha2
Ensembl Gene ENSMUSG00000006445
Gene Name Eph receptor A2
Synonyms Sek2, Eck, Myk2, Sek-2
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 141028551-141056695 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 141049203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006614]
AlphaFold Q03145
Predicted Effect probably null
Transcript: ENSMUST00000006614
SMART Domains Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445

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: ENSMUST00000149002
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca15 T A 7: 119,950,126 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Brd1 T C 15: 88,613,980 (GRCm39) N305S probably damaging Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Ddhd1 G A 14: 45,833,049 (GRCm39) T849M probably damaging Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Stat6 T C 10: 127,493,096 (GRCm39) V576A probably damaging Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Wdhd1 A G 14: 47,504,525 (GRCm39) S350P probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P 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
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
R5864:Epha2 UTSW 4 141,035,738 (GRCm39) missense probably damaging 0.98
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'- GTGCCACTTGACTAAGGAAGGCTC -3'
(R):5'- TACTTCATGCCGGATGCGATACCC -3'

Sequencing Primer
(F):5'- TTGACTAAGGAAGGCTCCTCAC -3'
(R):5'- TACCCTAAGGAACTTGTCTAGCG -3'
Posted On 2013-04-16