Incidental Mutation 'R7031:Epha5'
ID 546316
Institutional Source Beutler Lab
Gene Symbol Epha5
Ensembl Gene ENSMUSG00000029245
Gene Name Eph receptor A5
Synonyms Rek7, Cek7, Els1, Ehk1, Hek7, bsk
MMRRC Submission 045132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 84202620-84565241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84290159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 428 (I428V)
Ref Sequence ENSEMBL: ENSMUSP00000109028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]
AlphaFold Q60629
Predicted Effect probably benign
Transcript: ENSMUST00000053733
AA Change: I429V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: I429V

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: I481V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: I481V

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: I593V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: I593V

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: I428V

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: I428V

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: I593V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: I593V

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: I592V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: I592V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Cuzd1 A T 7: 130,910,580 (GRCm39) F572I probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dhx15 T C 5: 52,341,931 (GRCm39) D129G probably benign Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Ing2 T C 8: 48,121,858 (GRCm39) D230G probably benign Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Ly96 A T 1: 16,758,787 (GRCm39) E19V possibly damaging Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign 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
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
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'- CTGATAACAACTGGAAGCAATACGG -3'
(R):5'- TGGAGATAACCTTTGCTGGG -3'

Sequencing Primer
(F):5'- TAACAACTGGAAGCAATACGGACAAG -3'
(R):5'- CTGGGTTTGTGTGAATTGTTTAAACC -3'
Posted On 2019-05-13