Incidental Mutation 'R2867:Epha6'
ID 266408
Institutional Source Beutler Lab
Gene Symbol Epha6
Ensembl Gene ENSMUSG00000055540
Gene Name Eph receptor A6
Synonyms Ehk2, m-ehk2, Hek12
MMRRC Submission 040456-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2867 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59473846-60425894 bp(-) (GRCm39)
Type of Mutation splice site (38 bp from exon)
DNA Base Change (assembly) T to C at 59780659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068860] [ENSMUST00000161358]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000068860
SMART Domains Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540

DomainStartEndE-ValueType
low complexity region 4 37 N/A INTRINSIC
low complexity region 79 90 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
EPH_lbd 128 301 5.95e-125 SMART
Pfam:GCC2_GCC3 361 406 1.6e-8 PFAM
FN3 426 518 5.83e-3 SMART
FN3 537 618 2.19e-7 SMART
Pfam:EphA2_TM 644 722 1.8e-22 PFAM
TyrKc 725 1024 3.66e-122 SMART
SAM 1052 1119 1.24e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161358
SMART Domains Protein: ENSMUSP00000124340
Gene: ENSMUSG00000055540

DomainStartEndE-ValueType
Pfam:EphA2_TM 9 88 1.2e-26 PFAM
Pfam:Pkinase_Tyr 91 183 3e-18 PFAM
Pfam:Pkinase 91 296 1.5e-29 PFAM
Pfam:Pkinase_Tyr 179 295 6e-31 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (30/31)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display discrete learning and memory deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 T C 1: 177,595,378 (GRCm39) probably null Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Birc2 A C 9: 7,834,478 (GRCm39) M1R probably null Het
Caprin2 G A 6: 148,747,738 (GRCm39) silent Het
Cog4 C A 8: 111,593,291 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Ctnna2 T C 6: 77,091,905 (GRCm39) probably benign Het
Cyp7a1 T C 4: 6,272,493 (GRCm39) E240G probably damaging Het
Dnaaf11 A T 15: 66,310,257 (GRCm39) L337* probably null Het
Efhc2 A T X: 17,027,484 (GRCm39) probably benign Homo
Evc T A 5: 37,473,619 (GRCm39) probably benign Het
Fbf1 A G 11: 116,052,274 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Gtf3c4 A G 2: 28,729,916 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Kif20b A G 19: 34,917,528 (GRCm39) E631G probably damaging Het
Lctl T C 9: 64,045,150 (GRCm39) S550P probably benign Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mgst2 A G 3: 51,571,954 (GRCm39) silent Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp1 T C 8: 87,588,033 (GRCm39) N302D probably benign Het
Pcdh7 A T 5: 57,879,236 (GRCm39) K930N probably damaging Het
Pramel16 T A 4: 143,675,456 (GRCm39) I457L probably benign Het
Proca1 A T 11: 78,095,806 (GRCm39) N146I probably damaging Het
RP23-211L5.9 T C 6: 68,872,634 (GRCm39) probably null Het
Ryr2 A T 13: 11,776,235 (GRCm39) W1101R probably damaging Het
Slc35d3 T C 10: 19,725,209 (GRCm39) T216A probably benign Het
Terb1 C T 8: 105,174,485 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,108,945 (GRCm39) D289Y probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Tradd G T 8: 105,986,145 (GRCm39) F182L probably benign Het
Trav17 A T 14: 54,044,383 (GRCm39) Y50F probably benign Het
Usp37 A T 1: 74,489,691 (GRCm39) D808E probably damaging Het
Usp42 G A 5: 143,701,219 (GRCm39) P935S possibly damaging Het
Vmn2r23 A G 6: 123,690,123 (GRCm39) D333G possibly damaging Het
Zfpm2 C T 15: 40,962,785 (GRCm39) A149V probably benign Het
Other mutations in Epha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Epha6 APN 16 59,736,325 (GRCm39) missense probably damaging 1.00
IGL00849:Epha6 APN 16 60,245,474 (GRCm39) missense possibly damaging 0.89
IGL00898:Epha6 APN 16 59,595,904 (GRCm39) critical splice donor site probably null
IGL01353:Epha6 APN 16 60,245,258 (GRCm39) missense probably damaging 1.00
IGL01409:Epha6 APN 16 59,476,100 (GRCm39) nonsense probably null
IGL01577:Epha6 APN 16 59,777,289 (GRCm39) missense possibly damaging 0.57
IGL01653:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01654:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01655:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01657:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL01663:Epha6 APN 16 59,596,007 (GRCm39) missense probably damaging 1.00
IGL01899:Epha6 APN 16 59,659,666 (GRCm39) missense probably benign 0.05
IGL02272:Epha6 APN 16 59,639,300 (GRCm39) missense probably damaging 1.00
IGL03265:Epha6 APN 16 59,880,594 (GRCm39) splice site probably benign
IGL03333:Epha6 APN 16 59,503,051 (GRCm39) missense probably damaging 1.00
rauwulfia UTSW 16 59,502,979 (GRCm39) missense probably damaging 1.00
PIT4377001:Epha6 UTSW 16 60,025,915 (GRCm39) missense probably damaging 0.98
R0505:Epha6 UTSW 16 60,026,095 (GRCm39) missense possibly damaging 0.89
R1593:Epha6 UTSW 16 60,245,267 (GRCm39) missense probably damaging 1.00
R1764:Epha6 UTSW 16 59,596,091 (GRCm39) missense probably null 1.00
R1836:Epha6 UTSW 16 60,026,108 (GRCm39) missense probably damaging 1.00
R2061:Epha6 UTSW 16 59,476,160 (GRCm39) missense probably damaging 1.00
R2125:Epha6 UTSW 16 59,503,051 (GRCm39) missense probably damaging 1.00
R2867:Epha6 UTSW 16 59,780,659 (GRCm39) splice site probably null
R3760:Epha6 UTSW 16 60,041,347 (GRCm39) missense possibly damaging 0.70
R4305:Epha6 UTSW 16 60,346,883 (GRCm39) splice site probably null
R4613:Epha6 UTSW 16 59,486,960 (GRCm39) missense possibly damaging 0.80
R4818:Epha6 UTSW 16 59,474,426 (GRCm39) missense probably damaging 0.99
R4832:Epha6 UTSW 16 59,780,776 (GRCm39) missense probably damaging 0.98
R4895:Epha6 UTSW 16 59,486,918 (GRCm39) missense probably benign 0.08
R5014:Epha6 UTSW 16 59,486,942 (GRCm39) missense probably benign 0.00
R5316:Epha6 UTSW 16 59,775,083 (GRCm39) missense probably damaging 0.99
R5403:Epha6 UTSW 16 59,595,933 (GRCm39) missense probably damaging 1.00
R5417:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R5418:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R5678:Epha6 UTSW 16 59,639,342 (GRCm39) missense probably damaging 1.00
R5775:Epha6 UTSW 16 59,639,357 (GRCm39) missense possibly damaging 0.92
R5808:Epha6 UTSW 16 59,503,105 (GRCm39) missense probably damaging 1.00
R6076:Epha6 UTSW 16 60,026,073 (GRCm39) missense probably damaging 1.00
R6146:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6212:Epha6 UTSW 16 60,245,719 (GRCm39) missense possibly damaging 0.77
R6242:Epha6 UTSW 16 59,503,025 (GRCm39) missense probably damaging 1.00
R6503:Epha6 UTSW 16 60,025,984 (GRCm39) missense possibly damaging 0.61
R6580:Epha6 UTSW 16 59,502,979 (GRCm39) missense probably damaging 1.00
R6726:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6728:Epha6 UTSW 16 60,245,198 (GRCm39) missense possibly damaging 0.89
R6798:Epha6 UTSW 16 60,425,428 (GRCm39) missense possibly damaging 0.53
R6798:Epha6 UTSW 16 60,425,427 (GRCm39) missense possibly damaging 0.53
R6903:Epha6 UTSW 16 60,346,825 (GRCm39) missense probably benign 0.00
R6999:Epha6 UTSW 16 60,245,533 (GRCm39) missense possibly damaging 0.94
R7058:Epha6 UTSW 16 59,503,013 (GRCm39) missense probably damaging 1.00
R7109:Epha6 UTSW 16 59,503,031 (GRCm39) missense probably damaging 1.00
R7263:Epha6 UTSW 16 59,596,028 (GRCm39) missense probably damaging 1.00
R7296:Epha6 UTSW 16 59,736,201 (GRCm39) missense probably benign 0.00
R7343:Epha6 UTSW 16 59,780,793 (GRCm39) missense probably damaging 0.98
R7443:Epha6 UTSW 16 59,595,988 (GRCm39) missense possibly damaging 0.93
R7533:Epha6 UTSW 16 60,025,925 (GRCm39) missense probably damaging 1.00
R7602:Epha6 UTSW 16 59,595,931 (GRCm39) missense probably damaging 1.00
R7604:Epha6 UTSW 16 60,026,135 (GRCm39) missense possibly damaging 0.89
R8321:Epha6 UTSW 16 59,736,317 (GRCm39) missense probably damaging 1.00
R8414:Epha6 UTSW 16 59,826,030 (GRCm39) missense probably damaging 1.00
R8794:Epha6 UTSW 16 60,026,035 (GRCm39) missense probably benign 0.00
R8926:Epha6 UTSW 16 59,659,662 (GRCm39) missense probably benign 0.11
R9166:Epha6 UTSW 16 60,425,238 (GRCm39) missense probably benign 0.00
R9265:Epha6 UTSW 16 59,476,117 (GRCm39) missense probably damaging 1.00
R9322:Epha6 UTSW 16 60,245,118 (GRCm39) missense probably damaging 1.00
R9442:Epha6 UTSW 16 60,025,850 (GRCm39) missense probably benign 0.26
R9742:Epha6 UTSW 16 60,026,065 (GRCm39) missense probably damaging 1.00
Z1188:Epha6 UTSW 16 59,474,453 (GRCm39) missense probably damaging 1.00
Z1189:Epha6 UTSW 16 59,474,453 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAAACCCTTTAAGGAGTCATC -3'
(R):5'- AAGTGTCCCCTGTGTCTGTG -3'

Sequencing Primer
(F):5'- GAGTAAGTTATCCTTTAGTACTTGGC -3'
(R):5'- GTTTCAGCTTCTGACATGGC -3'
Posted On 2015-02-18