Incidental Mutation 'R6189:Epha5'
ID 502371
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84385399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 311 (F311I)
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
AA Change: F311I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: F311I

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: F311I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: F311I

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: F311I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: F311I

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: F311I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: F311I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown 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
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
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'- CAACAGGCTCCATCATGCTG -3'
(R):5'- TGGTCTGAGAAGAGTCATCAGG -3'

Sequencing Primer
(F):5'- TTTCTCCAGACTGGCGAAAG -3'
(R):5'- GTCATCAGGAAGCTCATGGAAAATTC -3'
Posted On 2018-02-27