Incidental Mutation 'R1967:Epha5'
ID 219042
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 039980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1967 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84564288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 26 (V26A)
Ref Sequence ENSEMBL: ENSMUSP00000109033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]
AlphaFold Q60629
Predicted Effect unknown
Transcript: ENSMUST00000053733
AA Change: V26A
SMART Domains Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: V26A

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
AA Change: V26A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: V26A

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
AA Change: V26A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: V26A

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
AA Change: V26A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: V26A

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
AA Change: V26A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: V26A

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
AA Change: V26A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: V26A

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: ENSMUST00000136775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155469
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A C 15: 37,439,842 (GRCm39) probably benign Het
Abca6 T C 11: 110,077,974 (GRCm39) I1278V probably benign Het
Adamts15 C T 9: 30,832,605 (GRCm39) W310* probably null Het
Adamts6 T A 13: 104,563,459 (GRCm39) C650* probably null Het
Akap3 G T 6: 126,842,061 (GRCm39) G227C probably benign Het
Alox12e A T 11: 70,208,682 (GRCm39) S457T probably benign Het
Angpt1 C A 15: 42,301,703 (GRCm39) C435F probably damaging Het
Anxa9 T C 3: 95,207,919 (GRCm39) Q207R probably benign Het
Aplnr A T 2: 84,967,950 (GRCm39) D325V probably benign Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atp13a4 A G 16: 29,298,672 (GRCm39) S96P probably damaging Het
Bnc1 A T 7: 81,623,384 (GRCm39) H614Q probably benign Het
C6 A G 15: 4,789,302 (GRCm39) D249G probably damaging Het
Camta1 A T 4: 151,173,430 (GRCm39) F977I probably damaging Het
Chil6 T C 3: 106,298,470 (GRCm39) S188G possibly damaging Het
Cntrob A T 11: 69,211,789 (GRCm39) L145Q probably damaging Het
Coro7 T C 16: 4,452,753 (GRCm39) E306G probably damaging Het
Cplane1 T G 15: 8,232,904 (GRCm39) V1141G probably benign Het
Cpq T C 15: 33,497,348 (GRCm39) S363P possibly damaging Het
Ctc1 A G 11: 68,918,688 (GRCm39) probably null Het
Defb43 T A 14: 63,255,246 (GRCm39) N26K probably benign Het
Dennd1a T C 2: 37,734,845 (GRCm39) T41A probably benign Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Eml6 A G 11: 29,974,545 (GRCm39) L11P probably damaging Het
Fam13c A G 10: 70,387,565 (GRCm39) D443G probably damaging Het
Fam227a G A 15: 79,521,335 (GRCm39) L243F possibly damaging Het
Fat3 T G 9: 15,879,591 (GRCm39) R3301S probably benign Het
Fbxw20 T C 9: 109,046,578 (GRCm39) T461A probably benign Het
Fgf8 T A 19: 45,730,007 (GRCm39) S61C probably damaging Het
Fgfrl1 A G 5: 108,852,871 (GRCm39) E100G probably damaging Het
Gabra4 G A 5: 71,729,412 (GRCm39) S456F possibly damaging Het
Gas6 T C 8: 13,520,317 (GRCm39) E457G probably damaging Het
Gpr33 G A 12: 52,070,991 (GRCm39) S16L probably benign Het
Greb1l A C 18: 10,501,049 (GRCm39) N393T possibly damaging Het
Gtpbp4 T C 13: 9,027,340 (GRCm39) K492E probably benign Het
Hsf2bp A T 17: 32,206,378 (GRCm39) L251* probably null Het
Hyal5 A T 6: 24,876,193 (GRCm39) Q22L possibly damaging Het
Itih1 A T 14: 30,663,941 (GRCm39) V114E possibly damaging Het
Jak3 T A 8: 72,134,179 (GRCm39) I427N probably damaging Het
Jcad T C 18: 4,675,162 (GRCm39) S975P probably benign Het
Kcng4 A G 8: 120,359,662 (GRCm39) V238A probably damaging Het
Klb A G 5: 65,529,417 (GRCm39) D315G probably damaging Het
Klrh1 A T 6: 129,752,798 (GRCm39) N2K possibly damaging Het
Krt5 T C 15: 101,620,094 (GRCm39) N208D probably benign Het
Lmo7 T A 14: 102,137,651 (GRCm39) H551Q probably benign Het
Lrp8 G T 4: 107,717,168 (GRCm39) G732V probably damaging Het
Lrrc38 A G 4: 143,096,553 (GRCm39) D288G unknown Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Mas1 A G 17: 13,060,923 (GRCm39) Y167H probably benign Het
Mcm8 A C 2: 132,684,662 (GRCm39) I759L probably benign Het
Med13l G A 5: 118,899,387 (GRCm39) D2148N probably damaging Het
Muc20 A T 16: 32,614,612 (GRCm39) I255K probably benign Het
Myh1 A G 11: 67,104,273 (GRCm39) N980S probably benign Het
Nap1l4 T A 7: 143,088,024 (GRCm39) Q178L probably damaging Het
Ncapg T A 5: 45,857,252 (GRCm39) L988Q probably damaging Het
Ncf2 A T 1: 152,706,123 (GRCm39) H245L probably damaging Het
Neurl4 A G 11: 69,794,036 (GRCm39) E164G possibly damaging Het
Nf1 G A 11: 79,303,571 (GRCm39) R416H probably damaging Het
Obscn G A 11: 59,026,535 (GRCm39) Q223* probably null Het
Or10q1 T A 19: 13,727,417 (GRCm39) *316R probably null Het
Or2o1 T C 11: 49,051,675 (GRCm39) I278T probably benign Het
Pcdhb16 T A 18: 37,612,715 (GRCm39) N558K probably damaging Het
Pcnx2 A T 8: 126,542,422 (GRCm39) M1253K possibly damaging Het
Pla2g4a A G 1: 149,797,832 (GRCm39) V22A probably damaging Het
Plppr5 G A 3: 117,419,555 (GRCm39) probably null Het
Pnpla2 T C 7: 141,039,345 (GRCm39) S353P probably benign Het
Pom121 A T 5: 135,420,608 (GRCm39) L271Q unknown Het
Prepl A T 17: 85,395,979 (GRCm39) M1K probably null Het
Prr14l A G 5: 33,001,813 (GRCm39) probably benign Het
Psmc3 C A 2: 90,888,189 (GRCm39) P325T probably benign Het
Psme2b A G 11: 48,836,896 (GRCm39) V17A probably damaging Het
Ptpro A G 6: 137,393,863 (GRCm39) I23V probably benign Het
Rab31 A G 17: 66,079,499 (GRCm39) probably null Het
Ranbp6 T A 19: 29,789,900 (GRCm39) K151* probably null Het
Rbm12b1 A T 4: 12,146,304 (GRCm39) I759L probably benign Het
Rgs5 T C 1: 169,504,425 (GRCm39) I25T probably benign Het
Rnf213 T C 11: 119,371,721 (GRCm39) V4842A probably damaging Het
Rtl9 A T X: 141,886,037 (GRCm39) I1150F probably damaging Het
Scn1a A T 2: 66,158,769 (GRCm39) W384R probably damaging Het
Sema5a C T 15: 32,681,765 (GRCm39) P948L probably damaging Het
Slc26a3 G A 12: 31,515,777 (GRCm39) R559Q probably damaging Het
Slc29a3 A G 10: 60,552,243 (GRCm39) V267A probably benign Het
Spata22 A G 11: 73,221,953 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,454 (GRCm39) I909L probably benign Het
Sptbn2 G T 19: 4,795,327 (GRCm39) R1595L probably benign Het
Tfdp1 T C 8: 13,423,039 (GRCm39) S315P possibly damaging Het
Tle1 A T 4: 72,038,463 (GRCm39) V688E probably damaging Het
Tmem129 A T 5: 33,812,665 (GRCm39) probably null Het
Tmprss11a G A 5: 86,579,702 (GRCm39) T91I probably benign Het
Tnfsf14 A G 17: 57,497,807 (GRCm39) Y142H probably damaging Het
Tph1 T C 7: 46,311,538 (GRCm39) D68G probably benign Het
Ttn A T 2: 76,592,631 (GRCm39) S12507T probably damaging Het
Tubgcp2 T A 7: 139,586,066 (GRCm39) M408L probably benign Het
Usp34 A T 11: 23,314,503 (GRCm39) H815L probably benign Het
Usp6nl G A 2: 6,446,330 (GRCm39) R746H probably benign Het
Utp20 A G 10: 88,652,841 (GRCm39) S358P probably benign Het
Vmn2r118 G A 17: 55,899,882 (GRCm39) T674I probably damaging Het
Vmn2r8 A T 5: 108,950,249 (GRCm39) H199Q probably benign Het
Vmn2r9 A G 5: 108,995,388 (GRCm39) V420A probably benign Het
Vmn2r99 A T 17: 19,599,077 (GRCm39) T254S probably benign Het
Zbed5 A G 5: 129,930,510 (GRCm39) H132R possibly damaging Het
Zfp568 A G 7: 29,688,513 (GRCm39) E25G probably damaging Het
Zfp951 T A 5: 104,964,866 (GRCm39) I67L 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
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
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
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'- GAAGAGCGGGGATTTAGTCTC -3'
(R):5'- CATTTAGAGGGGTCGAGAGC -3'

Sequencing Primer
(F):5'- GGATTTAGTCTCCGCAGCG -3'
(R):5'- GTACAGGACCCCACCAGGAG -3'
Posted On 2014-08-25