Incidental Mutation 'R9355:Epha7'
ID 708319
Institutional Source Beutler Lab
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene Name Eph receptor A7
Synonyms Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R9355 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 28813131-28967499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28935806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 476 (Y476C)
Ref Sequence ENSEMBL: ENSMUSP00000029964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]
AlphaFold Q61772
Predicted Effect probably damaging
Transcript: ENSMUST00000029964
AA Change: Y476C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: Y476C

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: ENSMUST00000080934
AA Change: Y476C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: Y476C

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 damaging
Transcript: ENSMUST00000108191
AA Change: Y476C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: Y476C

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 damaging
Transcript: ENSMUST00000108194
AA Change: Y476C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: Y476C

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: 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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 A G 7: 140,681,817 (GRCm39) V747A probably benign Het
Arfgef1 G A 1: 10,270,000 (GRCm39) P383L probably benign Het
Arhgef4 A G 1: 34,849,630 (GRCm39) E407G probably benign Het
Astn1 C T 1: 158,511,721 (GRCm39) L1188F probably damaging Het
Atg2b G A 12: 105,636,980 (GRCm39) P179S possibly damaging Het
Bcl9l G A 9: 44,419,000 (GRCm39) R983H probably benign Het
Bmp2k T A 5: 97,211,366 (GRCm39) Y511* probably null Het
C1galt1 G T 6: 7,866,474 (GRCm39) V107F probably damaging Het
Car3 T A 3: 14,928,664 (GRCm39) N11K Het
Ccdc170 A G 10: 4,508,695 (GRCm39) R640G probably benign Het
Cep126 A G 9: 8,100,038 (GRCm39) V832A possibly damaging Het
Ces1h C T 8: 94,101,149 (GRCm39) V49I Het
Clasp2 T A 9: 113,664,309 (GRCm39) V310D probably damaging Het
Comp C T 8: 70,828,699 (GRCm39) T177M probably benign Het
Coro1c T C 5: 114,003,726 (GRCm39) S98G probably damaging Het
Cpa6 C T 1: 10,479,520 (GRCm39) V238I probably benign Het
Crebrf T C 17: 26,962,094 (GRCm39) F397S probably damaging Het
Dcpp1 C A 17: 24,099,987 (GRCm39) Q3K possibly damaging Het
Dzip1l A G 9: 99,543,144 (GRCm39) D533G possibly damaging Het
Ecpas A T 4: 58,844,114 (GRCm39) S551T probably benign Het
Epha5 T C 5: 84,253,890 (GRCm39) E524G probably damaging Het
Erich5 G T 15: 34,471,001 (GRCm39) V77F probably damaging Het
Fat4 A G 3: 39,036,047 (GRCm39) Y3233C probably damaging Het
Ggt1 T A 10: 75,421,716 (GRCm39) V521E probably benign Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gm5624 A T 14: 44,799,272 (GRCm39) L95* probably null Het
Gphn A G 12: 78,538,968 (GRCm39) T205A probably damaging Het
Grik5 C A 7: 24,767,597 (GRCm39) A28S possibly damaging Het
H2-K2 A G 17: 34,216,120 (GRCm39) S300P probably benign Het
H2-Oa T C 17: 34,313,723 (GRCm39) L227P possibly damaging Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Hmcn2 A T 2: 31,328,302 (GRCm39) M4328L probably benign Het
Htt A T 5: 35,053,247 (GRCm39) M2527L probably benign Het
Impdh2 A T 9: 108,442,402 (GRCm39) H466L probably benign Het
Itgae G A 11: 73,006,906 (GRCm39) G384D probably damaging Het
Krt90 T C 15: 101,461,714 (GRCm39) S496G unknown Het
Krtap5-5 A G 7: 141,783,114 (GRCm39) S179P unknown Het
Lif C T 11: 4,219,044 (GRCm39) R63W probably damaging Het
Lrrc10 T C 10: 116,881,881 (GRCm39) V185A probably damaging Het
Lrrc27 A C 7: 138,822,648 (GRCm39) Q513P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map2k3 T C 11: 60,823,055 (GRCm39) S3P possibly damaging Het
Mc2r T C 18: 68,541,195 (GRCm39) T33A probably benign Het
Mefv T A 16: 3,525,882 (GRCm39) D795V probably damaging Het
Megf6 A T 4: 154,338,282 (GRCm39) R451W probably damaging Het
Mrpl21 G A 19: 3,336,937 (GRCm39) V103M probably damaging Het
Mtmr14 GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC GCCGCCGCCTC 6: 113,214,948 (GRCm39) probably null Het
Myom1 T C 17: 71,384,888 (GRCm39) S760P probably damaging Het
Ndst4 A G 3: 125,403,246 (GRCm39) Y451C probably damaging Het
Nkain4 T C 2: 180,577,775 (GRCm39) N193S possibly damaging Het
Opa1 T A 16: 29,432,807 (GRCm39) L490H probably damaging Het
Opcml A C 9: 28,814,650 (GRCm39) I301L probably benign Het
Or10ak16 G A 4: 118,750,784 (GRCm39) S168N probably benign Het
Or1e33 A G 11: 73,738,643 (GRCm39) F103L probably damaging Het
Or4p23 A T 2: 88,576,749 (GRCm39) I161N probably damaging Het
Or52s19 T C 7: 103,008,125 (GRCm39) H92R probably benign Het
Pabpc1l T C 2: 163,884,469 (GRCm39) L402P probably benign Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Peak1 G T 9: 56,167,454 (GRCm39) A158E probably damaging Het
Ppfibp2 C T 7: 107,322,169 (GRCm39) P406L probably benign Het
Qpctl T C 7: 18,875,146 (GRCm39) H362R probably damaging Het
Ripor2 A G 13: 24,885,694 (GRCm39) H643R probably benign Het
Scn11a A T 9: 119,584,160 (GRCm39) L1485Q probably damaging Het
Scn2a A T 2: 65,594,433 (GRCm39) I1761F probably damaging Het
Scrn3 A G 2: 73,166,077 (GRCm39) D370G probably benign Het
Sec24b A T 3: 129,787,489 (GRCm39) F877Y possibly damaging Het
Slc35f3 T C 8: 127,108,967 (GRCm39) I172T probably damaging Het
Smc3 T C 19: 53,622,544 (GRCm39) probably null Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Sos1 T A 17: 80,722,479 (GRCm39) I856F possibly damaging Het
Sp2 A T 11: 96,852,231 (GRCm39) L231H possibly damaging Het
Syne1 T C 10: 5,318,255 (GRCm39) Y457C probably damaging Het
Tdpoz6 T C 3: 93,600,307 (GRCm39) T21A possibly damaging Het
Tekt5 T C 16: 10,213,268 (GRCm39) T6A possibly damaging Het
Tln2 G T 9: 67,262,529 (GRCm39) T574K possibly damaging Het
Tmem161a T C 8: 70,633,821 (GRCm39) S313P probably damaging Het
Trmt12 G A 15: 58,744,824 (GRCm39) C74Y probably damaging Het
Trpc6 A G 9: 8,649,473 (GRCm39) D561G probably benign Het
Ttn A G 2: 76,700,769 (GRCm39) V62A Het
Tubgcp5 T C 7: 55,467,177 (GRCm39) probably null Het
Unc13a C T 8: 72,098,375 (GRCm39) V1137M possibly damaging Het
Zfp729a A G 13: 67,767,515 (GRCm39) C905R probably damaging Het
Zfp735 A G 11: 73,602,362 (GRCm39) I435M probably benign Het
Zswim4 C A 8: 84,955,687 (GRCm39) G271W 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
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
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'- ACCTTAATGAAACTGGCACGGC -3'
(R):5'- AATAGAGCTGTTGGTCACAATCC -3'

Sequencing Primer
(F):5'- CATGGGACTGATCAGTTGTGAC -3'
(R):5'- TGTTGGTCACAATCCTAAACCAGAGG -3'
Posted On 2022-04-18