Incidental Mutation 'R0490:Epha5'
ID 43434
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0490 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 84255833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]
AlphaFold Q60629
Predicted Effect probably benign
Transcript: ENSMUST00000053733
SMART Domains Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 307 387 1.92e-12 SMART
Pfam:EphA2_TM 413 511 2.1e-22 PFAM
TyrKc 514 771 9.33e-138 SMART
SAM 801 868 6.65e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113398
SMART Domains Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 359 439 1.92e-12 SMART
Pfam:EphA2_TM 465 563 8.4e-23 PFAM
TyrKc 566 823 9.33e-138 SMART
Pfam:SAM_1 854 894 7.2e-11 PFAM
Pfam:SAM_2 856 894 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113399
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 360 450 1.53e-6 SMART
FN3 471 551 1.92e-12 SMART
Pfam:EphA2_TM 577 675 3.4e-22 PFAM
TyrKc 678 935 9.33e-138 SMART
Pfam:SAM_1 966 1006 2.9e-10 PFAM
Pfam:SAM_2 968 1006 5.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113401
SMART Domains Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 307 387 1.92e-12 SMART
Pfam:EphA2_TM 411 488 3.1e-30 PFAM
TyrKc 491 748 9.33e-138 SMART
Pfam:SAM_1 779 819 1.7e-10 PFAM
Pfam:SAM_2 781 819 3.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113403
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 360 450 1.53e-6 SMART
FN3 471 551 1.92e-12 SMART
Pfam:EphA2_TM 577 675 1.2e-25 PFAM
TyrKc 678 935 9.33e-138 SMART
SAM 965 1032 6.65e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113406
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
EPH_lbd 62 235 7e-122 SMART
FN3 360 450 1.53e-6 SMART
FN3 471 551 1.92e-12 SMART
Pfam:EphA2_TM 575 652 1.9e-30 PFAM
TyrKc 655 912 9.33e-138 SMART
SAM 942 1009 6.65e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154804
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Ccdc81 A T 7: 89,536,970 (GRCm39) V226D probably benign Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gsr T A 8: 34,161,540 (GRCm39) probably benign Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Lpl A G 8: 69,349,343 (GRCm39) R290G probably damaging Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b104 A G 19: 13,072,176 (GRCm39) Y279H probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pcdhb8 T C 18: 37,489,833 (GRCm39) S504P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N possibly damaging Het
Other mutations in Epha5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Epha5 APN 5 84,254,559 (GRCm39) missense probably damaging 1.00
IGL01084:Epha5 APN 5 84,218,946 (GRCm39) nonsense probably null
IGL01462:Epha5 APN 5 84,219,092 (GRCm39) missense probably damaging 1.00
IGL01516:Epha5 APN 5 84,534,135 (GRCm39) missense probably damaging 1.00
IGL01998:Epha5 APN 5 84,232,593 (GRCm39) missense probably damaging 1.00
IGL02744:Epha5 APN 5 84,255,848 (GRCm39) missense probably benign 0.22
IGL03076:Epha5 APN 5 84,479,549 (GRCm39) missense probably damaging 1.00
IGL03123:Epha5 APN 5 84,479,085 (GRCm39) critical splice donor site probably null
IGL03381:Epha5 APN 5 84,479,191 (GRCm39) missense probably damaging 0.98
BB001:Epha5 UTSW 5 84,232,705 (GRCm39) missense possibly damaging 0.71
BB011:Epha5 UTSW 5 84,232,705 (GRCm39) missense possibly damaging 0.71
PIT4544001:Epha5 UTSW 5 84,479,471 (GRCm39) missense possibly damaging 0.71
R0004:Epha5 UTSW 5 84,479,701 (GRCm39) missense probably damaging 1.00
R0545:Epha5 UTSW 5 84,215,217 (GRCm39) critical splice donor site probably null
R0835:Epha5 UTSW 5 84,534,101 (GRCm39) missense probably damaging 1.00
R1074:Epha5 UTSW 5 84,298,255 (GRCm39) missense probably damaging 0.99
R1074:Epha5 UTSW 5 84,298,254 (GRCm39) missense probably damaging 0.99
R1075:Epha5 UTSW 5 84,298,255 (GRCm39) missense probably damaging 0.99
R1075:Epha5 UTSW 5 84,298,254 (GRCm39) missense probably damaging 0.99
R1102:Epha5 UTSW 5 84,381,434 (GRCm39) splice site probably benign
R1184:Epha5 UTSW 5 84,219,134 (GRCm39) splice site probably null
R1255:Epha5 UTSW 5 84,298,255 (GRCm39) missense probably damaging 0.99
R1255:Epha5 UTSW 5 84,298,254 (GRCm39) missense probably damaging 0.99
R1327:Epha5 UTSW 5 84,254,644 (GRCm39) missense probably damaging 1.00
R1437:Epha5 UTSW 5 84,381,555 (GRCm39) missense probably damaging 1.00
R1804:Epha5 UTSW 5 84,479,674 (GRCm39) missense probably benign 0.21
R1967:Epha5 UTSW 5 84,564,288 (GRCm39) missense probably benign 0.23
R2187:Epha5 UTSW 5 84,234,223 (GRCm39) missense probably damaging 1.00
R2282:Epha5 UTSW 5 84,298,269 (GRCm39) missense probably damaging 1.00
R2899:Epha5 UTSW 5 84,381,667 (GRCm39) missense probably damaging 0.99
R3746:Epha5 UTSW 5 84,206,963 (GRCm39) missense probably damaging 1.00
R4454:Epha5 UTSW 5 84,304,303 (GRCm39) missense probably damaging 1.00
R4771:Epha5 UTSW 5 84,298,278 (GRCm39) missense probably damaging 0.99
R4809:Epha5 UTSW 5 84,253,750 (GRCm39) missense possibly damaging 0.88
R4810:Epha5 UTSW 5 84,253,750 (GRCm39) missense possibly damaging 0.88
R4825:Epha5 UTSW 5 84,381,699 (GRCm39) missense probably damaging 0.97
R4833:Epha5 UTSW 5 84,253,750 (GRCm39) missense possibly damaging 0.88
R4961:Epha5 UTSW 5 84,381,502 (GRCm39) missense probably damaging 1.00
R4976:Epha5 UTSW 5 84,232,683 (GRCm39) missense probably damaging 1.00
R4981:Epha5 UTSW 5 84,298,342 (GRCm39) missense probably damaging 1.00
R5149:Epha5 UTSW 5 84,298,217 (GRCm39) missense probably damaging 1.00
R5422:Epha5 UTSW 5 84,479,349 (GRCm39) missense probably damaging 1.00
R5575:Epha5 UTSW 5 84,564,361 (GRCm39) missense probably damaging 0.97
R5664:Epha5 UTSW 5 84,479,725 (GRCm39) missense probably damaging 1.00
R5801:Epha5 UTSW 5 84,479,085 (GRCm39) critical splice donor site probably null
R5821:Epha5 UTSW 5 84,232,587 (GRCm39) missense probably damaging 1.00
R5924:Epha5 UTSW 5 84,381,533 (GRCm39) nonsense probably null
R5951:Epha5 UTSW 5 84,479,051 (GRCm39) intron probably benign
R5956:Epha5 UTSW 5 84,298,228 (GRCm39) missense probably damaging 0.99
R6127:Epha5 UTSW 5 84,218,953 (GRCm39) missense probably damaging 1.00
R6189:Epha5 UTSW 5 84,385,399 (GRCm39) missense probably damaging 1.00
R6240:Epha5 UTSW 5 84,265,438 (GRCm39) missense probably benign 0.27
R6343:Epha5 UTSW 5 84,254,606 (GRCm39) missense probably damaging 1.00
R6463:Epha5 UTSW 5 84,254,569 (GRCm39) missense probably damaging 1.00
R6517:Epha5 UTSW 5 84,304,360 (GRCm39) missense possibly damaging 0.63
R6622:Epha5 UTSW 5 84,385,387 (GRCm39) missense possibly damaging 0.79
R6667:Epha5 UTSW 5 84,219,050 (GRCm39) missense probably damaging 1.00
R6741:Epha5 UTSW 5 84,254,557 (GRCm39) missense possibly damaging 0.69
R6757:Epha5 UTSW 5 84,253,737 (GRCm39) missense probably damaging 1.00
R6762:Epha5 UTSW 5 84,479,585 (GRCm39) missense probably damaging 1.00
R6819:Epha5 UTSW 5 84,254,649 (GRCm39) missense probably damaging 1.00
R7019:Epha5 UTSW 5 84,564,321 (GRCm39) missense possibly damaging 0.68
R7031:Epha5 UTSW 5 84,290,159 (GRCm39) missense probably benign 0.12
R7213:Epha5 UTSW 5 84,381,782 (GRCm39) splice site probably null
R7728:Epha5 UTSW 5 84,215,267 (GRCm39) missense possibly damaging 0.95
R7924:Epha5 UTSW 5 84,232,705 (GRCm39) missense possibly damaging 0.71
R7953:Epha5 UTSW 5 84,381,513 (GRCm39) missense probably benign 0.19
R8043:Epha5 UTSW 5 84,381,513 (GRCm39) missense probably benign 0.19
R8468:Epha5 UTSW 5 84,290,275 (GRCm39) splice site probably null
R8558:Epha5 UTSW 5 84,206,975 (GRCm39) missense probably damaging 1.00
R8796:Epha5 UTSW 5 84,255,850 (GRCm39) missense probably damaging 0.97
R9035:Epha5 UTSW 5 84,255,886 (GRCm39) missense probably damaging 1.00
R9060:Epha5 UTSW 5 84,218,977 (GRCm39) missense probably benign 0.01
R9244:Epha5 UTSW 5 84,265,441 (GRCm39) missense probably benign 0.28
R9347:Epha5 UTSW 5 84,479,731 (GRCm39) missense possibly damaging 0.51
R9355:Epha5 UTSW 5 84,253,890 (GRCm39) missense probably damaging 1.00
R9434:Epha5 UTSW 5 84,479,227 (GRCm39) missense possibly damaging 0.72
Z1088:Epha5 UTSW 5 84,385,381 (GRCm39) missense probably benign 0.01
Z1176:Epha5 UTSW 5 84,218,979 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AACCAGTCAGAGGTTGCCCAAAG -3'
(R):5'- TCTCGGCATCAAGAAATAGCAGCTC -3'

Sequencing Primer
(F):5'- GTTGCCCAAAGCCATGAG -3'
(R):5'- GCAGCTCAAAGTGTGAATTCC -3'
Posted On 2013-05-23