Incidental Mutation 'R4702:Epha7'
ID 356104
Institutional Source Beutler Lab
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene Name Eph receptor A7
Synonyms Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk
MMRRC Submission 041950-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R4702 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 28813131-28967499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28961425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 890 (L890Q)
Ref Sequence ENSEMBL: ENSMUSP00000029964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000108191] [ENSMUST00000108194]
AlphaFold Q61772
Predicted Effect probably damaging
Transcript: ENSMUST00000029964
AA Change: L890Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: L890Q

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 damaging
Transcript: ENSMUST00000108191
AA Change: L886Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: L886Q

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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. 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,509 (GRCm39) T390A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Adra1a T C 14: 66,875,008 (GRCm39) probably benign Het
Aff1 T C 5: 103,958,935 (GRCm39) Y343H probably damaging Het
Antxr2 C T 5: 98,097,028 (GRCm39) probably null Het
Ap1m2 A G 9: 21,209,591 (GRCm39) F362L probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Armc3 A G 2: 19,314,792 (GRCm39) N822S probably damaging Het
Atr A C 9: 95,802,408 (GRCm39) T1767P possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bloc1s1 T A 10: 128,759,267 (GRCm39) Q13L probably damaging Het
Blvra A C 2: 126,933,982 (GRCm39) I125L probably benign Het
Caps2 T C 10: 112,044,252 (GRCm39) F484L probably damaging Het
Cep76 A T 18: 67,767,968 (GRCm39) I188K possibly damaging Het
Cidea T A 18: 67,500,498 (GRCm39) F187I probably benign Het
Cntn3 T A 6: 102,142,292 (GRCm39) N1025I probably benign Het
Cntnap3 A T 13: 64,926,676 (GRCm39) C565S probably benign Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Cyp2d26 C T 15: 82,676,648 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,021,230 (GRCm39) probably null Het
Dnajb13 T C 7: 100,153,748 (GRCm39) N229S probably benign Het
Dpys A G 15: 39,656,798 (GRCm39) V423A possibly damaging Het
Eif4e1b A T 13: 54,935,138 (GRCm39) I222F probably damaging Het
Eif5b A T 1: 38,057,958 (GRCm39) N87Y unknown Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Fancm T A 12: 65,168,826 (GRCm39) S1730T possibly damaging Het
Flrt3 A G 2: 140,503,575 (GRCm39) F18L probably benign Het
Git2 A G 5: 114,883,543 (GRCm39) S396P probably damaging Het
H2-M10.4 A G 17: 36,772,874 (GRCm39) I36T probably benign Het
Igfn1 G A 1: 135,894,947 (GRCm39) S1873L possibly damaging Het
Ints12 A T 3: 132,802,546 (GRCm39) D10V probably damaging Het
Kbtbd2 A G 6: 56,756,288 (GRCm39) S483P probably benign Het
Kcnv2 G C 19: 27,300,967 (GRCm39) A273P probably damaging Het
Klc3 T G 7: 19,129,756 (GRCm39) D371A probably damaging Het
Lama3 T A 18: 12,711,086 (GRCm39) L1567* probably null Het
Ldhal6b G T 17: 5,468,582 (GRCm39) H117Q probably damaging Het
Lrriq1 G T 10: 103,051,610 (GRCm39) Q381K possibly damaging Het
Mrps31 T A 8: 22,909,754 (GRCm39) L140Q probably damaging Het
Myo15b A G 11: 115,774,834 (GRCm39) T2119A probably benign Het
Nkx6-2 T C 7: 139,161,456 (GRCm39) D243G probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Papln C T 12: 83,828,757 (GRCm39) T821I probably benign Het
Pitpnb T G 5: 111,519,218 (GRCm39) V166G probably benign Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plcxd3 C A 15: 4,405,269 (GRCm39) S25R probably benign Het
Ppargc1a T C 5: 51,653,038 (GRCm39) I175V possibly damaging Het
Ppp1r13b T A 12: 111,799,715 (GRCm39) Q687H probably benign Het
Prpf3 A G 3: 95,741,404 (GRCm39) V584A probably damaging Het
Psen2 A G 1: 180,055,289 (GRCm39) L399S probably damaging Het
Ptchd3 G A 11: 121,727,235 (GRCm39) V370I probably damaging Het
Rasa3 G T 8: 13,620,394 (GRCm39) D758E probably benign Het
Reck T C 4: 43,898,060 (GRCm39) C113R probably damaging Het
Resf1 A G 6: 149,230,901 (GRCm39) T1316A probably benign Het
Ric1 T A 19: 29,575,417 (GRCm39) F1009I possibly damaging Het
Rrp12 T C 19: 41,859,975 (GRCm39) N1035S probably damaging Het
Rtel1 T A 2: 180,993,962 (GRCm39) S849T probably benign Het
Scn10a A T 9: 119,462,857 (GRCm39) Y1060N possibly damaging Het
Selenov A G 7: 27,987,436 (GRCm39) L314P probably damaging Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc7a14 T A 3: 31,284,547 (GRCm39) Y263F probably damaging Het
Slco3a1 A G 7: 73,970,315 (GRCm39) S431P probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Spopl A T 2: 23,405,309 (GRCm39) probably null Het
Stk10 A T 11: 32,505,172 (GRCm39) T69S probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tec G A 5: 72,941,074 (GRCm39) P161L possibly damaging Het
Tnip1 A G 11: 54,815,228 (GRCm39) S339P probably benign Het
Tsen34 T A 7: 3,703,632 (GRCm39) V290D probably damaging Het
Tuba1a T A 15: 98,849,563 (GRCm39) I5F possibly damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn1r63 T C 7: 5,806,516 (GRCm39) R39G possibly damaging Het
Xylt2 A G 11: 94,560,355 (GRCm39) Y307H possibly damaging Het
Zfp65 A G 13: 67,872,341 (GRCm39) M1T probably null Het
Zmym4 T C 4: 126,816,958 (GRCm39) I247V probably benign 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
R0310:Epha7 UTSW 4 28,961,301 (GRCm39) missense probably benign 0.33
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
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'- CCATTTTGCCTTCCAAGCAG -3'
(R):5'- GACATCTCATGTTCTCAGAAGTCC -3'

Sequencing Primer
(F):5'- TCATTGTAATTGAAGCTCAGTTGG -3'
(R):5'- TGTTCTCAGAAGTCCTAAGAAAAGAG -3'
Posted On 2015-10-21