Incidental Mutation 'R5661:Epha7'
ID 444078
Institutional Source Beutler Lab
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene Name Eph receptor A7
Synonyms Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk
MMRRC Submission 043304-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R5661 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 28813131-28967499 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 28946217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]
AlphaFold Q61772
Predicted Effect probably null
Transcript: ENSMUST00000029964
SMART Domains Protein: ENSMUSP00000029964
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
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 null
Transcript: ENSMUST00000080934
SMART Domains Protein: ENSMUSP00000079735
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
Predicted Effect probably null
Transcript: ENSMUST00000108191
SMART Domains Protein: ENSMUSP00000103826
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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129912
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 A G 6: 83,497,754 (GRCm39) I166T probably damaging Het
Actn1 T C 12: 80,231,618 (GRCm39) E273G probably benign Het
Arhgap15 G A 2: 44,212,739 (GRCm39) R403H possibly damaging Het
Arhgef26 T C 3: 62,285,075 (GRCm39) probably benign Het
Avl9 A T 6: 56,702,087 (GRCm39) R81* probably null Het
Brd3 G A 2: 27,351,584 (GRCm39) T223I possibly damaging Het
Cacna2d4 T C 6: 119,320,492 (GRCm39) M890T probably benign Het
Carm1 A G 9: 21,498,295 (GRCm39) D433G probably benign Het
Ccdc40 A G 11: 119,128,753 (GRCm39) K427E probably benign Het
Ccdc80 T C 16: 44,947,808 (GRCm39) Y929H probably damaging Het
Ccr9 A C 9: 123,609,164 (GRCm39) Y282S probably benign Het
Det1 C T 7: 78,492,958 (GRCm39) E349K probably damaging Het
Enpep T A 3: 129,070,406 (GRCm39) N834Y probably damaging Het
Fap A T 2: 62,367,307 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,053 (GRCm39) C23R probably benign Het
Gad1-ps T C 10: 99,280,901 (GRCm39) noncoding transcript Het
Gli2 C A 1: 118,781,032 (GRCm39) E238* probably null Het
Gm20939 C A 17: 95,183,207 (GRCm39) H148N probably damaging Het
Gnl1 T C 17: 36,293,447 (GRCm39) Y211H probably benign Het
Gpat3 A T 5: 101,033,808 (GRCm39) K221* probably null Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hnrnph1 A T 11: 50,275,507 (GRCm39) Q415L probably benign Het
Kansl3 T C 1: 36,388,038 (GRCm39) E383G possibly damaging Het
Kdm5b T C 1: 134,526,811 (GRCm39) V311A probably benign Het
Lipk T A 19: 34,009,727 (GRCm39) M215K probably benign Het
Madd A G 2: 90,984,778 (GRCm39) probably null Het
Meltf A G 16: 31,700,744 (GRCm39) E88G possibly damaging Het
Mis18bp1 A T 12: 65,195,626 (GRCm39) S713T probably benign Het
Mocos T A 18: 24,799,052 (GRCm39) probably null Het
Msto1 T A 3: 88,820,192 (GRCm39) D88V possibly damaging Het
Myo5a A G 9: 75,074,488 (GRCm39) Y799C probably benign Het
Nectin4 T A 1: 171,212,738 (GRCm39) L357H probably damaging Het
Or4p22 G A 2: 88,317,441 (GRCm39) V122M probably damaging Het
Or6c2 A T 10: 129,362,618 (GRCm39) H174L probably benign Het
Pax2 A G 19: 44,779,161 (GRCm39) N179S probably damaging Het
Pcdhac2 C A 18: 37,278,499 (GRCm39) T493K probably damaging Het
Pgk2 G T 17: 40,518,287 (GRCm39) C380* probably null Het
Pi4k2b G A 5: 52,900,906 (GRCm39) probably null Het
Plcb3 A G 19: 6,940,588 (GRCm39) V416A probably damaging Het
Pom121l2 G A 13: 22,168,425 (GRCm39) G899R possibly damaging Het
Ppp4r1 T C 17: 66,110,963 (GRCm39) probably null Het
Prkdc G A 16: 15,628,634 (GRCm39) E3460K possibly damaging Het
Psmb3 A G 11: 97,597,659 (GRCm39) E75G possibly damaging Het
Retnlb C T 16: 48,638,429 (GRCm39) T50I probably benign Het
Sec16a A G 2: 26,329,649 (GRCm39) S789P probably benign Het
Sec24d C T 3: 123,136,734 (GRCm39) T489I probably damaging Het
Sec24d T C 3: 123,136,791 (GRCm39) M508T possibly damaging Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Terf1 T A 1: 15,889,888 (GRCm39) V221E probably damaging Het
Trak1 A G 9: 121,272,703 (GRCm39) N187S possibly damaging Het
Trappc11 T A 8: 47,965,642 (GRCm39) D528V probably damaging Het
Tut4 A G 4: 108,370,384 (GRCm39) D761G probably benign Het
Vmn1r170 A G 7: 23,306,231 (GRCm39) N211S possibly damaging Het
Zfpm2 G A 15: 40,959,467 (GRCm39) W50* 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
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
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
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'- CCGTTTGAGATGCAGAAGGC -3'
(R):5'- AGCCTAACTGTGCTTATGGTATC -3'

Sequencing Primer
(F):5'- GAAGGCTACTTCCAATCTCTAGC -3'
(R):5'- CTGTGCTTATGGTATCACATTCAATC -3'
Posted On 2016-11-09