Incidental Mutation 'R4981:Epha5'
ID 384815
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 042576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4981 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84298342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 406 (T406S)
Ref Sequence ENSEMBL: ENSMUSP00000109025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]
AlphaFold Q60629
Predicted Effect probably damaging
Transcript: ENSMUST00000053733
AA Change: T354S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: T354S

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 damaging
Transcript: ENSMUST00000113398
AA Change: T406S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: T406S

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: T518S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: T518S

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 damaging
Transcript: ENSMUST00000113401
AA Change: T354S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: T354S

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: T518S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: T518S

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: T518S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: T518S

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
Meta Mutation Damage Score 0.1591 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (105/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,095,772 (GRCm39) probably null Het
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Amer2 T A 14: 60,617,176 (GRCm39) L331H probably damaging Het
Ang4 T G 14: 52,001,829 (GRCm39) K40Q probably benign Het
Aspm A C 1: 139,398,498 (GRCm39) probably null Het
Cacna1c A T 6: 118,728,432 (GRCm39) D337E probably benign Het
Ccdc124 T C 8: 71,321,429 (GRCm39) E134G probably benign Het
Ccdc7a G T 8: 129,711,464 (GRCm39) A312E probably benign Het
Cd209g A G 8: 4,186,845 (GRCm39) D130G probably damaging Het
Cd320 T C 17: 34,066,549 (GRCm39) S96P probably benign Het
Cenatac A T 9: 44,329,245 (GRCm39) F14Y probably damaging Het
Clu C G 14: 66,210,815 (GRCm39) Q134E probably damaging Het
Cnksr3 T A 10: 7,110,777 (GRCm39) H28L probably benign Het
Cntnap1 T C 11: 101,067,159 (GRCm39) probably null Het
Col22a1 C T 15: 71,732,915 (GRCm39) C546Y unknown Het
Col6a3 C T 1: 90,706,565 (GRCm39) V2183I unknown Het
Cop1 A G 1: 159,152,638 (GRCm39) probably benign Het
Cpne8 T C 15: 90,563,438 (GRCm39) I24V probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Dennd5b G A 6: 148,911,270 (GRCm39) L978F possibly damaging Het
Depdc1a G T 3: 159,229,550 (GRCm39) M627I probably benign Het
Dnah3 A T 7: 119,555,424 (GRCm39) N2721K probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A G 18: 20,541,925 (GRCm39) T811A possibly damaging Het
Emilin1 C G 5: 31,076,695 (GRCm39) Q847E probably benign Het
Epha3 A T 16: 63,472,775 (GRCm39) V370D probably benign Het
Ephb1 A T 9: 101,918,159 (GRCm39) I450N probably benign Het
Ephb2 A G 4: 136,423,321 (GRCm39) M319T probably benign Het
Eps15l1 A G 8: 73,132,833 (GRCm39) probably null Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fgd5 T C 6: 91,966,281 (GRCm39) I838T probably damaging Het
Fnbp4 T C 2: 90,596,174 (GRCm39) F582L probably damaging Het
Frs3 T C 17: 48,000,187 (GRCm39) probably null Het
Fscb C T 12: 64,520,393 (GRCm39) V358I possibly damaging Het
Fus G T 7: 127,566,727 (GRCm39) probably benign Het
Fyb1 CCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT 15: 6,676,092 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,270 (GRCm39) I77F possibly damaging Het
Gm4454 C T 7: 38,269,860 (GRCm39) noncoding transcript Het
Gng3 G A 19: 8,815,625 (GRCm39) A37V possibly damaging Het
Grin3b T A 10: 79,812,191 (GRCm39) probably benign Het
Herpud1 A G 8: 95,118,422 (GRCm39) Y41C probably damaging Het
Igkv4-92 G C 6: 68,732,028 (GRCm39) S115R possibly damaging Het
Ikbip T A 10: 90,931,848 (GRCm39) I164N probably benign Het
Kank1 A G 19: 25,388,759 (GRCm39) T783A probably benign Het
Kcnq3 A T 15: 65,903,254 (GRCm39) V152E possibly damaging Het
Kif23 C T 9: 61,839,153 (GRCm39) R314H probably damaging Het
Klc4 T C 17: 46,955,287 (GRCm39) H49R probably benign Het
Klhl20 A T 1: 160,930,575 (GRCm39) I309N possibly damaging Het
Lgals4 A G 7: 28,540,701 (GRCm39) Y268C probably damaging Het
Lingo4 A G 3: 94,306,761 (GRCm39) Q13R probably benign Het
Lmtk2 C A 5: 144,113,265 (GRCm39) F1328L probably damaging Het
Mapk14 A G 17: 28,960,765 (GRCm39) R179G probably damaging Het
Mbd3l1 A T 9: 18,396,201 (GRCm39) T109S probably benign Het
Megf6 T C 4: 154,351,907 (GRCm39) F1169L possibly damaging Het
Mrgpra1 A T 7: 46,984,959 (GRCm39) V240D probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myh1 T C 11: 67,115,300 (GRCm39) probably benign Het
Nav3 T C 10: 109,716,553 (GRCm39) I172V probably benign Het
Nemp1 T A 10: 127,529,399 (GRCm39) L178Q probably damaging Het
Numa1 T C 7: 101,641,881 (GRCm39) S110P probably damaging Het
Or4a75 A G 2: 89,447,769 (GRCm39) Y256H probably damaging Het
Or4c117 T C 2: 88,955,845 (GRCm39) T77A probably benign Het
Or51k1 A G 7: 103,661,312 (GRCm39) I199T probably damaging Het
Or5ak25 A G 2: 85,268,813 (GRCm39) S230P probably damaging Het
Or8k30 T C 2: 86,339,171 (GRCm39) Y123H probably damaging Het
Or9q1 A T 19: 13,805,458 (GRCm39) F101I probably damaging Het
Pard3b T G 1: 62,383,219 (GRCm39) M771R probably damaging Het
Phkg2 A G 7: 127,181,551 (GRCm39) I245V probably damaging Het
Pik3cg A T 12: 32,254,103 (GRCm39) M628K possibly damaging Het
Poln A G 5: 34,264,429 (GRCm39) probably null Het
Ppip5k1 A T 2: 121,142,871 (GRCm39) S1172T probably damaging Het
Prdm5 A T 6: 65,847,446 (GRCm39) H363L probably damaging Het
Prkdc A G 16: 15,496,173 (GRCm39) Y788C probably damaging Het
Prrc2c T A 1: 162,520,116 (GRCm39) R2076S probably damaging Het
Sh2d2a A G 3: 87,756,728 (GRCm39) Y191C probably damaging Het
Slc20a1 T C 2: 129,041,919 (GRCm39) I94T probably damaging Het
Sptbn2 T C 19: 4,801,686 (GRCm39) V2366A probably benign Het
Stab2 T A 10: 86,796,087 (GRCm39) M387L probably benign Het
Syne2 T G 12: 75,987,993 (GRCm39) M1718R probably damaging Het
Synm G T 7: 67,384,235 (GRCm39) F700L probably benign Het
Tmco4 T C 4: 138,718,012 (GRCm39) F51L possibly damaging Het
Tmem104 C A 11: 115,095,962 (GRCm39) P168T probably damaging Het
Tril G T 6: 53,795,905 (GRCm39) T439K probably benign Het
Trim2 A G 3: 84,085,042 (GRCm39) L559P probably damaging Het
Trim3 A G 7: 105,268,335 (GRCm39) V149A probably damaging Het
Triml2 A G 8: 43,640,717 (GRCm39) N191S probably benign Het
Usp4 A G 9: 108,258,617 (GRCm39) D16G probably benign Het
Vmn2r58 G A 7: 41,486,885 (GRCm39) T670I probably damaging Het
Vmn2r97 G T 17: 19,160,436 (GRCm39) G524* probably null Het
Xpo5 C A 17: 46,531,743 (GRCm39) F426L probably damaging Het
Zfp800 A G 6: 28,247,190 (GRCm39) L84S probably damaging Het
Zranb2 T G 3: 157,252,378 (GRCm39) probably benign Het
Zswim4 C T 8: 84,953,296 (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
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
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'- GAGCCTATCGATCCATGGAC -3'
(R):5'- GCTTCAGGGGTAAGAGTCAG -3'

Sequencing Primer
(F):5'- CTCTTCTGGTAACCATTACAGAGAC -3'
(R):5'- GGTAAGAGTCAGAGCTTTGGC -3'
Posted On 2016-05-10