Incidental Mutation 'R7367:Epha7'
ID 571866
Institutional Source Beutler Lab
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene Name Eph receptor A7
Synonyms Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk
MMRRC Submission 045451-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R7367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 28813131-28967499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28871937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 422 (S422L)
Ref Sequence ENSEMBL: ENSMUSP00000029964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]
AlphaFold Q61772
Predicted Effect probably benign
Transcript: ENSMUST00000029964
AA Change: S422L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: S422L

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 possibly damaging
Transcript: ENSMUST00000080934
AA Change: S422L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: S422L

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 benign
Transcript: ENSMUST00000108191
AA Change: S422L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: S422L

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 possibly damaging
Transcript: ENSMUST00000108194
AA Change: S422L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: S422L

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,996,312 (GRCm39) T374A probably benign Het
Agps T A 2: 75,698,657 (GRCm39) H348Q possibly damaging Het
Ankrd34b C A 13: 92,574,795 (GRCm39) T9K probably benign Het
Atp10b A G 11: 43,138,328 (GRCm39) Q1203R probably damaging Het
B4galnt4 A G 7: 140,644,388 (GRCm39) N123D probably damaging Het
Ccn6 A G 10: 39,034,261 (GRCm39) C114R probably damaging Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfh A T 1: 140,014,259 (GRCm39) H1188Q probably damaging Het
Cisd1 A G 10: 71,172,190 (GRCm39) Y31H probably damaging Het
Cnga1 G A 5: 72,762,701 (GRCm39) S271F possibly damaging Het
Cntnap5a A G 1: 116,370,025 (GRCm39) T881A probably benign Het
Cracd T A 5: 77,004,449 (GRCm39) L270Q unknown Het
Cyp2s1 A T 7: 25,505,398 (GRCm39) D355E possibly damaging Het
Dnaaf10 A G 11: 17,182,712 (GRCm39) Y291C probably damaging Het
Dnah11 T A 12: 117,951,177 (GRCm39) R3044W possibly damaging Het
Dnah17 T C 11: 118,006,022 (GRCm39) D730G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Flacc1 A T 1: 58,706,023 (GRCm39) I282N probably benign Het
Fsd2 A G 7: 81,184,928 (GRCm39) I656T probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm45871 A T 18: 90,609,224 (GRCm39) H154L probably benign Het
Golgb1 T A 16: 36,718,908 (GRCm39) N312K probably benign Het
H2ac4 A G 13: 23,935,333 (GRCm39) D73G possibly damaging Het
Hsd17b4 T A 18: 50,288,252 (GRCm39) H227Q probably damaging Het
Hsd17b6 A T 10: 127,829,492 (GRCm39) S237T probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Kcnv1 C T 15: 44,972,638 (GRCm39) C415Y probably damaging Het
Kif11 T A 19: 37,408,789 (GRCm39) L1037H probably benign Het
Lama5 T C 2: 179,834,751 (GRCm39) T1347A probably benign Het
Lrrc32 G T 7: 98,148,086 (GRCm39) E289* probably null Het
Lrrc66 T C 5: 73,765,724 (GRCm39) T440A probably benign Het
Neurl4 T C 11: 69,799,408 (GRCm39) L928P probably damaging Het
Nos2 G A 11: 78,840,916 (GRCm39) C788Y possibly damaging Het
Or2c1 A G 16: 3,657,166 (GRCm39) T110A probably damaging Het
Or4x11 A G 2: 89,868,156 (GRCm39) S298G probably benign Het
Or5m5 T C 2: 85,814,687 (GRCm39) W168R possibly damaging Het
Pafah1b3 A G 7: 24,995,491 (GRCm39) C156R probably benign Het
Pak1ip1 T G 13: 41,162,371 (GRCm39) N151K probably damaging Het
Pax7 G A 4: 139,507,060 (GRCm39) P326S probably benign Het
Pex11b G A 3: 96,543,994 (GRCm39) A21T probably damaging Het
Pkn2 A G 3: 142,516,488 (GRCm39) V546A probably benign Het
Ppat T A 5: 77,067,711 (GRCm39) R260* probably null Het
Ppp1r13l C G 7: 19,104,081 (GRCm39) S187R probably benign Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
R3hdm1 A G 1: 128,081,129 (GRCm39) D55G possibly damaging Het
Rev1 A T 1: 38,113,488 (GRCm39) Y526* probably null Het
Rp1 A G 1: 4,418,221 (GRCm39) W964R probably benign Het
Sarnp A G 10: 128,669,247 (GRCm39) I35V probably damaging Het
Sec23a T C 12: 59,013,785 (GRCm39) N730S probably benign Het
Sh3d19 A G 3: 86,011,535 (GRCm39) K374E probably benign Het
Sh3tc2 A G 18: 62,122,577 (GRCm39) D446G probably benign Het
Sugct T A 13: 17,819,399 (GRCm39) I149F probably damaging Het
Tle2 A G 10: 81,416,152 (GRCm39) N142S probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trpm1 T A 7: 63,918,549 (GRCm39) Y1514N probably benign Het
Ubr4 C T 4: 139,180,002 (GRCm39) S259L unknown Het
Utp20 A T 10: 88,631,305 (GRCm39) L892Q probably benign Het
Zfp956 C T 6: 47,940,853 (GRCm39) T404M probably damaging 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
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
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'- ATACTGTGTAAGCGGTGCAG -3'
(R):5'- ACTTTCCCCACCAGAACTATGGG -3'

Sequencing Primer
(F):5'- GCGGTGCAGTTGGGAAC -3'
(R):5'- CCAGAACTATGGGGATATTAAATGAC -3'
Posted On 2019-09-13