Incidental Mutation 'R4709:Ephb2'
ID 355465
Institutional Source Beutler Lab
Gene Symbol Ephb2
Ensembl Gene ENSMUSG00000028664
Gene Name Eph receptor B2
Synonyms eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5
MMRRC Submission 042018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R4709 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 136374850-136563299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 136423363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 305 (C305F)
Ref Sequence ENSEMBL: ENSMUSP00000101472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059287] [ENSMUST00000105845] [ENSMUST00000105846]
AlphaFold P54763
Predicted Effect probably damaging
Transcript: ENSMUST00000059287
AA Change: C305F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: C305F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EPH_lbd 20 197 7.37e-130 SMART
Pfam:GCC2_GCC3 261 304 8.1e-10 PFAM
FN3 325 417 1.75e-6 SMART
FN3 436 518 1.23e-10 SMART
Pfam:EphA2_TM 545 619 6e-25 PFAM
TyrKc 622 881 1.34e-138 SMART
SAM 911 978 1.18e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105845
AA Change: C305F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: C305F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EPH_lbd 20 197 7.37e-130 SMART
Pfam:GCC2_GCC3 259 305 2.2e-10 PFAM
FN3 325 417 1.75e-6 SMART
FN3 436 517 1.41e-10 SMART
Pfam:EphA2_TM 543 618 2.1e-30 PFAM
TyrKc 621 880 1.34e-138 SMART
SAM 910 977 1.18e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105846
AA Change: C305F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: C305F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EPH_lbd 20 197 7.37e-130 SMART
Pfam:GCC2_GCC3 259 305 2.2e-10 PFAM
FN3 325 417 1.75e-6 SMART
FN3 436 517 1.41e-10 SMART
Pfam:EphA2_TM 543 619 1e-30 PFAM
TyrKc 622 881 1.34e-138 SMART
SAM 911 978 1.18e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156558
SMART Domains Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664

DomainStartEndE-ValueType
FN3 1 85 6.48e1 SMART
FN3 104 186 1.23e-10 SMART
Pfam:EphA2_TM 213 276 2.5e-16 PFAM
Meta Mutation Damage Score 0.9676 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors consist of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The encoded receptor preferentially binds membrane-bound ephrin-B ligands and is involved in nervous system and vascular development. This gene is used as a marker of intestinal stem cells. Homozygous knockout mice for this gene exhibit impaired axon guidance and vestibular function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 36,271,069 (GRCm39) T463M probably damaging Het
Arhgap35 C T 7: 16,297,511 (GRCm39) G518D probably damaging Het
Arhgdia A G 11: 120,470,517 (GRCm39) Y110H probably damaging Het
Atp8b3 T C 10: 80,372,604 (GRCm39) probably null Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cbr4 T C 8: 61,943,061 (GRCm39) V77A possibly damaging Het
Cers2 A G 3: 95,227,534 (GRCm39) Y54C possibly damaging Het
Cnbp A T 6: 87,821,120 (GRCm39) H145Q probably damaging Het
Csmd1 A T 8: 16,073,905 (GRCm39) I2030N possibly damaging Het
Csmd1 A G 8: 16,760,522 (GRCm39) probably null Het
Dhodh T C 8: 110,328,170 (GRCm39) probably null Het
Dnah11 T A 12: 117,982,495 (GRCm39) Y2558F probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
En1 A T 1: 120,534,872 (GRCm39) Y387F unknown Het
Fryl A G 5: 73,238,315 (GRCm39) V1477A probably benign Het
Gimap3 A T 6: 48,742,327 (GRCm39) L201Q probably benign Het
Gm10801 T G 2: 98,494,246 (GRCm39) probably null Het
Grhl1 A G 12: 24,636,132 (GRCm39) I283V possibly damaging Het
Grid2ip T A 5: 143,374,658 (GRCm39) L926H probably damaging Het
Gtf2h2 G T 13: 100,605,523 (GRCm39) C82* probably null Het
Gtf2ird1 T C 5: 134,433,588 (GRCm39) T280A probably benign Het
Gzmd T C 14: 56,367,698 (GRCm39) I192V probably null Het
Hectd1 A G 12: 51,834,695 (GRCm39) V855A possibly damaging Het
Hey1 A G 3: 8,730,963 (GRCm39) probably benign Het
Hpx A G 7: 105,249,243 (GRCm39) S19P probably benign Het
Incenp G A 19: 9,853,964 (GRCm39) R696W unknown Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ldlrad3 A G 2: 101,900,343 (GRCm39) I53T probably damaging Het
Map3k7 G T 4: 31,985,700 (GRCm39) E208* probably null Het
Myh9 A T 15: 77,671,717 (GRCm39) I458N probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nectin3 T A 16: 46,284,306 (GRCm39) Y126F possibly damaging Het
Nek5 A T 8: 22,573,443 (GRCm39) N504K probably damaging Het
Nlrp4c T A 7: 6,068,424 (GRCm39) H108Q probably benign Het
Or10d5 A T 9: 39,861,165 (GRCm39) L301M probably damaging Het
Or2ak4 T C 11: 58,649,013 (GRCm39) V174A possibly damaging Het
Or2at1 A T 7: 99,416,989 (GRCm39) I207F probably damaging Het
Or5h17 A T 16: 58,820,458 (GRCm39) T137S probably benign Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Or9i14 T A 19: 13,792,814 (GRCm39) I47F possibly damaging Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pcdhb12 A G 18: 37,570,548 (GRCm39) T565A probably benign Het
Pclo A G 5: 14,828,572 (GRCm39) N4676D unknown Het
Pdlim1 T A 19: 40,211,180 (GRCm39) H278L probably benign Het
Pfkfb3 G A 2: 11,498,719 (GRCm39) T46M probably damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Plxna1 T C 6: 89,311,733 (GRCm39) D924G possibly damaging Het
Postn T A 3: 54,292,031 (GRCm39) probably benign Het
Ptpn23 A G 9: 110,217,924 (GRCm39) S674P possibly damaging Het
Ranbp6 C T 19: 29,788,984 (GRCm39) R456Q probably benign Het
Rbm43 A T 2: 51,819,728 (GRCm39) V46E probably damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtn4r A G 16: 17,969,046 (GRCm39) Y158C probably damaging Het
Ryr2 A G 13: 11,731,884 (GRCm39) I2352T probably damaging Het
Sbk2 G T 7: 4,960,577 (GRCm39) R198S possibly damaging Het
Scube3 G A 17: 28,386,166 (GRCm39) probably null Het
Slc45a1 G A 4: 150,722,697 (GRCm39) P396S probably benign Het
Slc4a10 A G 2: 62,087,861 (GRCm39) D418G probably null Het
Smarcad1 A G 6: 65,052,099 (GRCm39) T411A probably benign Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Stag1 G T 9: 100,620,092 (GRCm39) R65L probably damaging Het
Stat1 A T 1: 52,165,680 (GRCm39) D92V probably damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn1r172 A G 7: 23,359,606 (GRCm39) T164A probably benign Het
Vmn2r118 A T 17: 55,917,860 (GRCm39) D217E probably damaging Het
Vmn2r26 A G 6: 124,030,924 (GRCm39) E553G probably damaging Het
Vmn2r96 T C 17: 18,803,088 (GRCm39) F333L probably benign Het
Ypel5 G A 17: 73,155,726 (GRCm39) R98H probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zyg11a T C 4: 108,062,268 (GRCm39) S176G probably benign Het
Other mutations in Ephb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ephb2 APN 4 136,384,795 (GRCm39) missense probably damaging 0.96
IGL00963:Ephb2 APN 4 136,386,262 (GRCm39) missense probably benign 0.04
IGL01111:Ephb2 APN 4 136,384,721 (GRCm39) missense probably benign 0.01
IGL01462:Ephb2 APN 4 136,498,681 (GRCm39) missense possibly damaging 0.61
IGL01863:Ephb2 APN 4 136,387,088 (GRCm39) missense probably benign 0.03
IGL02149:Ephb2 APN 4 136,421,225 (GRCm39) missense probably damaging 1.00
IGL02232:Ephb2 APN 4 136,384,762 (GRCm39) missense probably damaging 0.97
IGL02269:Ephb2 APN 4 136,498,360 (GRCm39) missense possibly damaging 0.66
IGL02828:Ephb2 APN 4 136,498,461 (GRCm39) missense probably benign 0.09
IGL03109:Ephb2 APN 4 136,498,855 (GRCm39) missense probably damaging 1.00
IGL03284:Ephb2 APN 4 136,388,827 (GRCm39) missense probably damaging 0.96
Zimbalist UTSW 4 136,387,020 (GRCm39) missense probably damaging 1.00
BB006:Ephb2 UTSW 4 136,388,195 (GRCm39) missense probably damaging 1.00
BB016:Ephb2 UTSW 4 136,388,195 (GRCm39) missense probably damaging 1.00
PIT4453001:Ephb2 UTSW 4 136,388,121 (GRCm39) missense probably benign 0.00
R0004:Ephb2 UTSW 4 136,384,835 (GRCm39) missense probably damaging 1.00
R0121:Ephb2 UTSW 4 136,498,368 (GRCm39) missense probably damaging 0.99
R0539:Ephb2 UTSW 4 136,383,287 (GRCm39) missense probably damaging 1.00
R0614:Ephb2 UTSW 4 136,400,676 (GRCm39) missense probably benign 0.00
R0988:Ephb2 UTSW 4 136,387,019 (GRCm39) missense possibly damaging 0.59
R1471:Ephb2 UTSW 4 136,386,262 (GRCm39) missense probably benign 0.04
R1473:Ephb2 UTSW 4 136,421,369 (GRCm39) missense possibly damaging 0.83
R1546:Ephb2 UTSW 4 136,498,320 (GRCm39) missense probably damaging 0.99
R1639:Ephb2 UTSW 4 136,421,216 (GRCm39) missense probably benign 0.10
R1725:Ephb2 UTSW 4 136,387,089 (GRCm39) nonsense probably null
R1779:Ephb2 UTSW 4 136,421,136 (GRCm39) missense possibly damaging 0.64
R1818:Ephb2 UTSW 4 136,382,647 (GRCm39) missense probably benign 0.02
R2099:Ephb2 UTSW 4 136,388,066 (GRCm39) missense probably damaging 1.00
R2916:Ephb2 UTSW 4 136,411,256 (GRCm39) missense probably damaging 0.99
R3885:Ephb2 UTSW 4 136,498,345 (GRCm39) missense probably damaging 1.00
R4572:Ephb2 UTSW 4 136,383,251 (GRCm39) missense probably damaging 1.00
R4893:Ephb2 UTSW 4 136,387,064 (GRCm39) missense probably damaging 0.99
R4981:Ephb2 UTSW 4 136,423,321 (GRCm39) missense probably benign 0.09
R4992:Ephb2 UTSW 4 136,388,150 (GRCm39) missense probably damaging 1.00
R5004:Ephb2 UTSW 4 136,387,010 (GRCm39) missense possibly damaging 0.77
R5307:Ephb2 UTSW 4 136,421,098 (GRCm39) missense possibly damaging 0.89
R5370:Ephb2 UTSW 4 136,498,881 (GRCm39) missense probably benign 0.00
R5561:Ephb2 UTSW 4 136,388,717 (GRCm39) missense probably damaging 1.00
R5643:Ephb2 UTSW 4 136,498,923 (GRCm39) missense probably damaging 0.99
R5826:Ephb2 UTSW 4 136,388,048 (GRCm39) missense probably damaging 1.00
R5858:Ephb2 UTSW 4 136,399,756 (GRCm39) missense probably benign
R5867:Ephb2 UTSW 4 136,402,733 (GRCm39) missense possibly damaging 0.81
R5990:Ephb2 UTSW 4 136,423,366 (GRCm39) missense probably benign 0.03
R6000:Ephb2 UTSW 4 136,411,341 (GRCm39) missense possibly damaging 0.76
R6156:Ephb2 UTSW 4 136,388,816 (GRCm39) missense probably benign 0.44
R6413:Ephb2 UTSW 4 136,498,433 (GRCm39) missense probably benign 0.08
R6577:Ephb2 UTSW 4 136,384,861 (GRCm39) missense probably damaging 0.99
R6633:Ephb2 UTSW 4 136,411,307 (GRCm39) missense probably benign 0.07
R6720:Ephb2 UTSW 4 136,384,813 (GRCm39) missense probably damaging 0.99
R6795:Ephb2 UTSW 4 136,400,646 (GRCm39) missense possibly damaging 0.88
R7235:Ephb2 UTSW 4 136,421,139 (GRCm39) missense probably damaging 1.00
R7260:Ephb2 UTSW 4 136,498,885 (GRCm39) missense probably damaging 0.96
R7328:Ephb2 UTSW 4 136,386,245 (GRCm39) critical splice donor site probably null
R7404:Ephb2 UTSW 4 136,498,524 (GRCm39) missense probably damaging 1.00
R7466:Ephb2 UTSW 4 136,386,376 (GRCm39) missense probably damaging 1.00
R7524:Ephb2 UTSW 4 136,387,020 (GRCm39) missense probably damaging 1.00
R7605:Ephb2 UTSW 4 136,498,419 (GRCm39) missense probably damaging 1.00
R7611:Ephb2 UTSW 4 136,388,212 (GRCm39) critical splice acceptor site probably null
R7777:Ephb2 UTSW 4 136,498,947 (GRCm39) missense possibly damaging 0.92
R7889:Ephb2 UTSW 4 136,498,353 (GRCm39) missense probably damaging 0.99
R7929:Ephb2 UTSW 4 136,388,195 (GRCm39) missense probably damaging 1.00
R8191:Ephb2 UTSW 4 136,386,256 (GRCm39) missense probably damaging 0.96
R8370:Ephb2 UTSW 4 136,383,302 (GRCm39) missense possibly damaging 0.95
R8444:Ephb2 UTSW 4 136,388,711 (GRCm39) missense probably damaging 1.00
R8724:Ephb2 UTSW 4 136,498,368 (GRCm39) missense probably damaging 0.99
R8988:Ephb2 UTSW 4 136,402,769 (GRCm39) missense probably benign 0.42
R9410:Ephb2 UTSW 4 136,386,948 (GRCm39) missense probably null 1.00
R9722:Ephb2 UTSW 4 136,384,768 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCTCACATGACTGAGTGGAAG -3'
(R):5'- TTTCCAGGATCACAGCTAGGG -3'

Sequencing Primer
(F):5'- TGACTGAGTGGAAGGGGCAC -3'
(R):5'- AGGGCTATCTCCTCATACTACAG -3'
Posted On 2015-10-21