Incidental Mutation 'R6910:Epha2'
ID 538971
Institutional Source Beutler Lab
Gene Symbol Epha2
Ensembl Gene ENSMUSG00000006445
Gene Name Eph receptor A2
Synonyms Sek2, Eck, Myk2, Sek-2
MMRRC Submission 045002-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R6910 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141028551-141056695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141048824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 597 (D597G)
Ref Sequence ENSEMBL: ENSMUSP00000006614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006614]
AlphaFold Q03145
Predicted Effect probably damaging
Transcript: ENSMUST00000006614
AA Change: D597G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: D597G

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
Meta Mutation Damage Score 0.8445 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap54 A G 10: 92,672,374 (GRCm39) S2899P probably benign Het
Chil5 A G 3: 105,926,977 (GRCm39) W82R probably damaging Het
Dennd3 A G 15: 73,426,965 (GRCm39) T781A probably benign Het
Gcn1 A G 5: 115,744,597 (GRCm39) T1598A probably benign Het
Glp2r A G 11: 67,621,497 (GRCm39) F162S probably benign Het
Gm17655 T A 5: 110,195,039 (GRCm39) R248* probably null Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Hapln2 A G 3: 87,931,135 (GRCm39) Y127H probably damaging Het
Hdac4 G T 1: 91,909,875 (GRCm39) T463K probably damaging Het
Ift80 A C 3: 68,835,068 (GRCm39) S458A probably benign Het
Lama1 A G 17: 68,098,459 (GRCm39) D1846G possibly damaging Het
Map3k8 A G 18: 4,340,801 (GRCm39) I171T probably benign Het
Micu1 A G 10: 59,576,489 (GRCm39) E115G probably damaging Het
Mrpl39 A G 16: 84,532,080 (GRCm39) V9A unknown Het
Ncoa7 T G 10: 30,570,117 (GRCm39) I281L possibly damaging Het
Nms A G 1: 38,980,976 (GRCm39) E54G probably benign Het
Nrip1 G A 16: 76,091,305 (GRCm39) A84V probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or11g27 G A 14: 50,771,330 (GRCm39) V154M probably benign Het
Pcdhga10 T A 18: 37,881,285 (GRCm39) S349T probably damaging Het
R3hcc1 G A 14: 69,935,024 (GRCm39) P454L probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr3 T C 2: 112,788,520 (GRCm39) D170G probably damaging Het
Sanbr A G 11: 23,570,447 (GRCm39) V151A probably damaging Het
Scp2 C A 4: 107,962,283 (GRCm39) G81C probably damaging Het
Sez6 A G 11: 77,844,695 (GRCm39) T173A possibly damaging Het
Syne1 T C 10: 4,998,887 (GRCm39) H8142R probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf11a A G 1: 105,772,272 (GRCm39) T520A probably damaging Het
Tpm1 A G 9: 66,939,256 (GRCm39) S170P probably damaging Het
Try5 T C 6: 41,288,733 (GRCm39) D54G possibly damaging Het
Vmn2r-ps158 T C 7: 42,673,475 (GRCm39) F178L probably benign Het
Zan T C 5: 137,417,342 (GRCm39) E3041G unknown Het
Zfp1001 A T 2: 150,165,987 (GRCm39) Q56L probably benign Het
Zfp616 A T 11: 73,975,828 (GRCm39) H699L 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
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
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'- GGTAAGATGTACCCTCCTCAGG -3'
(R):5'- TCTCCAAACTCTCCTGCAGG -3'

Sequencing Primer
(F):5'- ACCTAGAGGCTCCATGCTG -3'
(R):5'- TCCTGCAGGCGGGCAAG -3'
Posted On 2018-11-06