Incidental Mutation 'R0310:Epha7'
ID 25112
Institutional Source Beutler Lab
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene Name Eph receptor A7
Synonyms Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk
MMRRC Submission 038520-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R0310 (G1)
Quality Score 206
Status Validated
Chromosome 4
Chromosomal Location 28813131-28967499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28961301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 845 (I845V)
Ref Sequence ENSEMBL: ENSMUSP00000103826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000108191] [ENSMUST00000108194]
AlphaFold Q61772
Predicted Effect probably benign
Transcript: ENSMUST00000029964
AA Change: I849V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: I849V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
Pfam:EphA2_TM 557 630 4.4e-25 PFAM
TyrKc 633 890 8.84e-139 SMART
SAM 920 987 1.26e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108191
AA Change: I845V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: I845V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
Pfam:EphA2_TM 556 626 2.9e-23 PFAM
TyrKc 629 886 8.84e-139 SMART
SAM 916 983 1.26e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108194
SMART Domains Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
transmembrane domain 556 578 N/A INTRINSIC
Meta Mutation Damage Score 0.1225 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 93.3%
  • 20x: 82.5%
Validation Efficiency 99% (113/114)
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,336,971 (GRCm39) T92P probably damaging Het
Abca13 T C 11: 9,243,810 (GRCm39) V1891A probably benign Het
Abcc1 T A 16: 14,228,791 (GRCm39) I346N probably damaging Het
Afdn G T 17: 14,105,770 (GRCm39) probably null Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akap13 A G 7: 75,264,678 (GRCm39) D507G probably damaging Het
Akap8 A T 17: 32,535,234 (GRCm39) M260K possibly damaging Het
Akr1b8 T C 6: 34,342,194 (GRCm39) V265A probably benign Het
Alpk3 C G 7: 80,728,358 (GRCm39) P496R possibly damaging Het
Ankrd13b A G 11: 77,363,571 (GRCm39) V249A possibly damaging Het
Arid4a T C 12: 71,122,604 (GRCm39) V995A probably benign Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atad2 G A 15: 57,977,653 (GRCm39) A499V probably damaging Het
Barhl2 G T 5: 106,605,253 (GRCm39) A152E possibly damaging Het
Bbs12 T A 3: 37,375,194 (GRCm39) D547E probably damaging Het
Btaf1 A G 19: 36,981,934 (GRCm39) M1655V probably damaging Het
Ccdc50 T A 16: 27,225,408 (GRCm39) H40Q probably damaging Het
Ccr9 A T 9: 123,603,617 (GRCm39) probably benign Het
Cdh15 A G 8: 123,592,175 (GRCm39) D654G probably damaging Het
Cebpz T C 17: 79,233,553 (GRCm39) D758G probably damaging Het
Cgn C T 3: 94,672,960 (GRCm39) R906K possibly damaging Het
Chil3 T A 3: 106,067,839 (GRCm39) M109L possibly damaging Het
Cntnap4 A T 8: 113,569,148 (GRCm39) probably null Het
Cyp4f18 C T 8: 72,754,856 (GRCm39) probably benign Het
Daam2 A G 17: 49,770,952 (GRCm39) probably null Het
Ddost T A 4: 138,037,922 (GRCm39) H220Q probably benign Het
Dennd2a C T 6: 39,441,135 (GRCm39) probably benign Het
Depdc1b G A 13: 108,510,375 (GRCm39) V296I possibly damaging Het
Dnaaf4 A T 9: 72,879,618 (GRCm39) D386V probably damaging Het
Dnah5 A T 15: 28,299,256 (GRCm39) R1539S probably benign Het
Dusp22 T C 13: 30,889,641 (GRCm39) I74T probably damaging Het
Epc1 A G 18: 6,440,202 (GRCm39) probably benign Het
Fanci C T 7: 79,057,165 (GRCm39) probably benign Het
Fbn1 T A 2: 125,205,564 (GRCm39) E1104V probably damaging Het
Fbxo8 T A 8: 57,043,132 (GRCm39) F205L probably damaging Het
Fcgbpl1 G T 7: 27,841,699 (GRCm39) V545L probably benign Het
Fetub T C 16: 22,748,506 (GRCm39) probably benign Het
Frs3 T C 17: 48,014,747 (GRCm39) V480A probably benign Het
Gne C A 4: 44,060,157 (GRCm39) E79* probably null Het
Hrc T A 7: 44,985,921 (GRCm39) H357Q probably benign Het
Idh1 T C 1: 65,201,079 (GRCm39) M291V probably damaging Het
Il22b T A 10: 118,129,090 (GRCm39) H133L probably benign Het
Ino80b T C 6: 83,101,072 (GRCm39) E165G probably damaging Het
Inppl1 A T 7: 101,477,706 (GRCm39) probably benign Het
Ints15 G T 5: 143,293,643 (GRCm39) T278K probably benign Het
Ip6k2 T C 9: 108,676,432 (GRCm39) probably benign Het
Itga11 A T 9: 62,667,628 (GRCm39) I654F probably damaging Het
Jag2 G T 12: 112,876,997 (GRCm39) probably benign Het
Katna1 G T 10: 7,619,513 (GRCm39) probably benign Het
Kcnh4 G T 11: 100,636,995 (GRCm39) S707Y probably benign Het
Kcnn2 T G 18: 45,693,585 (GRCm39) L387R probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Lama5 G T 2: 179,823,359 (GRCm39) probably benign Het
Lmbr1l A T 15: 98,806,654 (GRCm39) probably benign Het
Mast4 A T 13: 102,890,669 (GRCm39) S870T possibly damaging Het
Med1 A G 11: 98,058,400 (GRCm39) Y266H probably benign Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mgam T C 6: 40,737,969 (GRCm39) probably benign Het
Mmp8 A G 9: 7,561,455 (GRCm39) Q153R probably benign Het
Mpeg1 C A 19: 12,439,055 (GRCm39) T171N probably benign Het
Mtus2 T C 5: 148,043,829 (GRCm39) S806P probably benign Het
Naip2 T A 13: 100,285,350 (GRCm39) E1226V probably damaging Het
Naip6 A G 13: 100,444,721 (GRCm39) F246L possibly damaging Het
Nav3 T C 10: 109,602,989 (GRCm39) I1187V possibly damaging Het
Nbeal1 T C 1: 60,344,529 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,231 (GRCm39) V653L probably damaging Het
Ndufa9 G T 6: 126,804,495 (GRCm39) probably benign Het
Nlrp5 G T 7: 23,129,582 (GRCm39) C883F probably damaging Het
Nr0b2 C A 4: 133,283,303 (GRCm39) probably null Het
Or1m1 T A 9: 18,666,629 (GRCm39) M101L possibly damaging Het
Or6c209 T A 10: 129,483,600 (GRCm39) V201E probably damaging Het
Or6c69c G A 10: 129,910,692 (GRCm39) V138I probably benign Het
Or8b101 T A 9: 38,020,782 (GRCm39) S267T possibly damaging Het
Pkhd1 A T 1: 20,620,046 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,134 (GRCm39) probably benign Het
Ppm1l A G 3: 69,456,794 (GRCm39) K237R probably benign Het
Ppp1r18 T C 17: 36,184,603 (GRCm39) probably benign Het
Ptpn3 A T 4: 57,204,958 (GRCm39) D734E probably benign Het
Pxdn T C 12: 30,065,528 (GRCm39) C1283R probably damaging Het
Rbm12 A G 2: 155,937,644 (GRCm39) probably benign Het
Rttn A T 18: 89,027,584 (GRCm39) probably benign Het
Sgsm1 G T 5: 113,411,571 (GRCm39) H431Q probably benign Het
Siah3 A G 14: 75,763,367 (GRCm39) N206S possibly damaging Het
Slc22a15 G T 3: 101,767,827 (GRCm39) D521E probably benign Het
Sprr2k A T 3: 92,340,770 (GRCm39) probably benign Het
Stab2 G A 10: 86,803,477 (GRCm39) probably benign Het
Sval3 T A 6: 41,945,120 (GRCm39) L16Q probably damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Tk1 T C 11: 117,707,921 (GRCm39) probably benign Het
Tlk2 C A 11: 105,145,799 (GRCm39) A335E probably benign Het
Tmtc1 T C 6: 148,151,079 (GRCm39) K659E probably benign Het
Tnk2 C T 16: 32,499,408 (GRCm39) P907L probably benign Het
Trim14 C A 4: 46,522,043 (GRCm39) K211N probably damaging Het
Trim15 A C 17: 37,177,878 (GRCm39) L39R probably damaging Het
Tspan15 T A 10: 62,023,872 (GRCm39) T269S probably benign Het
Ttc7 T A 17: 87,669,292 (GRCm39) D646E probably benign Het
Ttll6 A T 11: 96,038,382 (GRCm39) Q410L probably benign Het
Unc79 A G 12: 103,027,666 (GRCm39) Q419R probably damaging Het
Vcam1 A T 3: 115,908,065 (GRCm39) Y666N possibly damaging Het
Vmn1r10 A T 6: 57,090,486 (GRCm39) Y26F probably damaging Het
Vmn1r80 A G 7: 11,927,775 (GRCm39) N295S probably benign Het
Vmn2r114 A T 17: 23,509,917 (GRCm39) H854Q probably benign Het
Vmn2r2 A T 3: 64,042,039 (GRCm39) D225E probably damaging Het
Vmn2r4 A T 3: 64,296,855 (GRCm39) Y643* probably null Het
Vmn2r52 T A 7: 9,893,393 (GRCm39) Y582F probably damaging Het
Vmn2r60 G T 7: 41,844,564 (GRCm39) L642F possibly damaging Het
Zbtb20 T C 16: 43,430,109 (GRCm39) S207P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zkscan7 G T 9: 122,717,958 (GRCm39) E118* probably null Het
Other mutations in Epha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Epha7 APN 4 28,961,285 (GRCm39) intron probably benign
IGL00849:Epha7 APN 4 28,870,662 (GRCm39) missense possibly damaging 0.63
IGL00898:Epha7 APN 4 28,938,693 (GRCm39) missense probably damaging 1.00
IGL02036:Epha7 APN 4 28,950,509 (GRCm39) missense probably damaging 1.00
IGL02227:Epha7 APN 4 28,821,587 (GRCm39) missense possibly damaging 0.85
IGL02237:Epha7 APN 4 28,949,325 (GRCm39) splice site probably null
IGL02376:Epha7 APN 4 28,951,287 (GRCm39) missense probably damaging 1.00
IGL02424:Epha7 APN 4 28,948,790 (GRCm39) intron probably benign
IGL02519:Epha7 APN 4 28,821,494 (GRCm39) missense possibly damaging 0.91
IGL02522:Epha7 APN 4 28,821,494 (GRCm39) missense possibly damaging 0.91
IGL02524:Epha7 APN 4 28,821,494 (GRCm39) missense possibly damaging 0.91
IGL02602:Epha7 APN 4 28,871,877 (GRCm39) missense possibly damaging 0.88
Pump UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
PIT4514001:Epha7 UTSW 4 28,961,355 (GRCm39) nonsense probably null
R0001:Epha7 UTSW 4 28,961,279 (GRCm39) intron probably benign
R0011:Epha7 UTSW 4 28,962,564 (GRCm39) missense probably benign 0.03
R0011:Epha7 UTSW 4 28,962,564 (GRCm39) missense probably benign 0.03
R0373:Epha7 UTSW 4 28,935,700 (GRCm39) splice site probably null
R0496:Epha7 UTSW 4 28,821,292 (GRCm39) missense probably damaging 1.00
R0554:Epha7 UTSW 4 28,951,401 (GRCm39) missense probably damaging 1.00
R0632:Epha7 UTSW 4 28,821,104 (GRCm39) missense probably damaging 1.00
R1677:Epha7 UTSW 4 28,947,571 (GRCm39) nonsense probably null
R1883:Epha7 UTSW 4 28,950,362 (GRCm39) missense possibly damaging 0.58
R1919:Epha7 UTSW 4 28,963,969 (GRCm39) missense possibly damaging 0.48
R1952:Epha7 UTSW 4 28,950,474 (GRCm39) missense probably damaging 0.97
R1999:Epha7 UTSW 4 28,938,686 (GRCm39) nonsense probably null
R2187:Epha7 UTSW 4 28,942,648 (GRCm39) missense possibly damaging 0.63
R2308:Epha7 UTSW 4 28,821,503 (GRCm39) missense possibly damaging 0.91
R2417:Epha7 UTSW 4 28,947,579 (GRCm39) missense probably damaging 1.00
R3911:Epha7 UTSW 4 28,938,680 (GRCm39) missense probably benign 0.01
R4350:Epha7 UTSW 4 28,950,393 (GRCm39) missense probably damaging 0.98
R4688:Epha7 UTSW 4 28,821,367 (GRCm39) missense probably damaging 1.00
R4702:Epha7 UTSW 4 28,961,425 (GRCm39) missense probably damaging 1.00
R4957:Epha7 UTSW 4 28,871,892 (GRCm39) missense probably damaging 0.99
R5364:Epha7 UTSW 4 28,950,557 (GRCm39) missense probably damaging 1.00
R5661:Epha7 UTSW 4 28,946,217 (GRCm39) splice site probably null
R5820:Epha7 UTSW 4 28,949,365 (GRCm39) missense probably damaging 1.00
R6038:Epha7 UTSW 4 28,821,521 (GRCm39) missense probably damaging 1.00
R6038:Epha7 UTSW 4 28,821,521 (GRCm39) missense probably damaging 1.00
R6592:Epha7 UTSW 4 28,813,482 (GRCm39) critical splice donor site probably null
R6783:Epha7 UTSW 4 28,950,528 (GRCm39) missense possibly damaging 0.94
R6991:Epha7 UTSW 4 28,821,489 (GRCm39) missense probably damaging 1.00
R7152:Epha7 UTSW 4 28,935,826 (GRCm39) missense possibly damaging 0.94
R7232:Epha7 UTSW 4 28,951,279 (GRCm39) missense probably damaging 1.00
R7261:Epha7 UTSW 4 28,813,418 (GRCm39) missense probably benign 0.04
R7365:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7367:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7368:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7413:Epha7 UTSW 4 28,871,838 (GRCm39) missense probably benign 0.00
R7603:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7604:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7605:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7607:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7608:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7609:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R7610:Epha7 UTSW 4 28,871,937 (GRCm39) missense probably benign 0.07
R8073:Epha7 UTSW 4 28,821,022 (GRCm39) missense probably damaging 1.00
R8263:Epha7 UTSW 4 28,821,149 (GRCm39) missense probably damaging 1.00
R8334:Epha7 UTSW 4 28,938,777 (GRCm39) missense probably benign 0.26
R8866:Epha7 UTSW 4 28,821,614 (GRCm39) missense probably benign 0.04
R8906:Epha7 UTSW 4 28,821,615 (GRCm39) missense probably damaging 0.98
R8914:Epha7 UTSW 4 28,963,892 (GRCm39) missense probably damaging 1.00
R9335:Epha7 UTSW 4 28,966,529 (GRCm39) missense probably benign 0.15
R9355:Epha7 UTSW 4 28,935,806 (GRCm39) missense probably damaging 1.00
R9576:Epha7 UTSW 4 28,870,659 (GRCm39) missense probably damaging 1.00
R9796:Epha7 UTSW 4 28,817,457 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCCTCCTGGACCCCATAATAAC -3'
(R):5'- CCGAAAGCAATGCCTGTCTACCTG -3'

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