Incidental Mutation 'R1437:Epha5'
ID 161284
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 039492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1437 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84381555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 432 (D432A)
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 damaging
Transcript: ENSMUST00000113399
AA Change: D432A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: D432A

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 damaging
Transcript: ENSMUST00000113403
AA Change: D432A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: D432A

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 damaging
Transcript: ENSMUST00000113406
AA Change: D432A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: D432A

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: ENSMUST00000152573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155469
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
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. 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,871,436 (GRCm39) V330E possibly damaging Het
Abcb5 A G 12: 118,838,497 (GRCm39) S1022P probably damaging Het
Abcc8 A G 7: 45,829,237 (GRCm39) I46T probably damaging Het
Add3 A G 19: 53,222,109 (GRCm39) R275G probably damaging Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Arhgef4 A G 1: 34,763,026 (GRCm39) T761A unknown Het
Asap1 A T 15: 63,991,956 (GRCm39) L751Q probably damaging Het
Atg2a C A 19: 6,300,646 (GRCm39) P741H probably damaging Het
Atxn10 T C 15: 85,243,675 (GRCm39) I46T possibly damaging Het
BC049715 C A 6: 136,817,090 (GRCm39) A110E probably damaging Het
Bltp1 C A 3: 36,996,578 (GRCm39) H1097N possibly damaging Het
Btbd7 T A 12: 102,754,349 (GRCm39) T806S possibly damaging Het
Cdk4 C A 10: 126,900,558 (GRCm39) P108H probably damaging Het
Cep290 A G 10: 100,407,963 (GRCm39) T2391A probably benign Het
Col6a3 G T 1: 90,729,098 (GRCm39) A1281E probably damaging Het
Cpa5 A T 6: 30,624,654 (GRCm39) I165F probably damaging Het
Ctdp1 G T 18: 80,493,428 (GRCm39) Q356K probably benign Het
Ddx21 A G 10: 62,434,369 (GRCm39) M130T unknown Het
Esr1 ACGCCGCCGCCGCCGCCGCCGCCGCCGCC ACGCCGCCGCCGCCGCCGCCGCCGCC 10: 4,662,571 (GRCm39) probably benign Het
Fads2 A T 19: 10,069,193 (GRCm39) L77Q probably benign Het
Fbn2 A T 18: 58,186,731 (GRCm39) H1723Q possibly damaging Het
Fbxo42 C T 4: 140,895,165 (GRCm39) H43Y probably benign Het
Fry A G 5: 150,233,890 (GRCm39) T121A possibly damaging Het
Gpr156 T G 16: 37,808,904 (GRCm39) S209A probably damaging Het
Hey2 T C 10: 30,709,845 (GRCm39) T303A probably benign Het
Hivep1 T A 13: 42,310,616 (GRCm39) M952K probably benign Het
Hydin C T 8: 111,308,617 (GRCm39) Q3968* probably null Het
Jup T C 11: 100,274,402 (GRCm39) E96G probably benign Het
Kcnn1 A G 8: 71,297,195 (GRCm39) I504T probably benign Het
Klk1b9 T C 7: 43,629,114 (GRCm39) V174A probably damaging Het
Lama3 G C 18: 12,682,284 (GRCm39) M1083I possibly damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lrfn2 T C 17: 49,378,253 (GRCm39) S445P probably damaging Het
Lrp3 C A 7: 34,912,595 (GRCm39) G31W probably damaging Het
Lrrc8b T C 5: 105,629,568 (GRCm39) L638P probably damaging Het
Mief2 C T 11: 60,621,769 (GRCm39) T113M probably benign Het
Mrps2 T C 2: 28,358,899 (GRCm39) F76S probably damaging Het
Naca A G 10: 127,878,048 (GRCm39) probably benign Het
Ndst4 C A 3: 125,355,099 (GRCm39) R336S probably damaging Het
Nr1i3 CACTCAACACTAC CAC 1: 171,044,710 (GRCm39) probably null Het
Nr5a1 T A 2: 38,600,685 (GRCm39) T29S probably benign Het
Or5ak23 T C 2: 85,245,218 (GRCm39) I2V probably benign Het
Or5as1 C T 2: 86,980,115 (GRCm39) V297M possibly damaging Het
Pald1 A G 10: 61,177,064 (GRCm39) F662S possibly damaging Het
Pdcd4 G T 19: 53,897,674 (GRCm39) A59S probably damaging Het
Pde4a T C 9: 21,103,888 (GRCm39) probably null Het
Pkd1 T A 17: 24,814,106 (GRCm39) S4159T probably damaging Het
Plaat1 C A 16: 29,046,922 (GRCm39) A147E possibly damaging Het
Plch1 C A 3: 63,604,954 (GRCm39) R1641L probably benign Het
Plec G T 15: 76,073,481 (GRCm39) P308Q probably damaging Het
Pnkp A G 7: 44,509,826 (GRCm39) S262G possibly damaging Het
Pou2f1 A G 1: 165,719,399 (GRCm39) V504A probably damaging Het
Prepl G A 17: 85,395,785 (GRCm39) R66W probably damaging Het
Rasgrf2 T C 13: 92,167,396 (GRCm39) K226E probably damaging Het
Ror1 T A 4: 100,269,306 (GRCm39) F381L probably benign Het
Sbsn C T 7: 30,452,478 (GRCm39) Q498* probably null Het
Scgb2b19 T C 7: 32,977,980 (GRCm39) I106V probably benign Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sis T C 3: 72,841,475 (GRCm39) H780R probably damaging Het
Slc28a3 G T 13: 58,706,389 (GRCm39) C617* probably null Het
Slc44a1 T A 4: 53,561,006 (GRCm39) V574D probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Stt3b T A 9: 115,083,995 (GRCm39) I394F probably damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ugt2b35 T C 5: 87,148,890 (GRCm39) V47A probably benign Het
Vmn2r114 A G 17: 23,510,185 (GRCm39) F765S probably damaging Het
Vps50 C T 6: 3,517,852 (GRCm39) Q97* probably null Het
Vsig10 A G 5: 117,489,635 (GRCm39) Q467R probably damaging Het
Wdsub1 T G 2: 59,708,477 (GRCm39) Y11S probably damaging Het
Zbtb11 T G 16: 55,811,983 (GRCm39) probably null 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
R0490:Epha5 UTSW 5 84,255,833 (GRCm39) splice site probably benign
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
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'- TGTAGATTCAATCGGCAGAGCAAAGTC -3'
(R):5'- ACTAGGGATTAGTATGGTCAAGGGCAAC -3'

Sequencing Primer
(F):5'- CTAAAATAATACAGTTGGGTTGGGC -3'
(R):5'- CTCGGAATGCCATCTCAAATG -3'
Posted On 2014-03-14