Incidental Mutation 'R9722:Ephb2'
ID 730838
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R9722 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 136374850-136563299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136384768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 881 (D881G)
Ref Sequence ENSEMBL: ENSMUSP00000101471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059287] [ENSMUST00000105845] [ENSMUST00000105846]
AlphaFold P54763
Predicted Effect probably damaging
Transcript: ENSMUST00000059287
AA Change: D882G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: D882G

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: D881G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: D881G

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: D882G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: D882G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,269 (GRCm39) I52F probably benign Het
Abcc3 A T 11: 94,250,072 (GRCm39) L1017Q probably damaging Het
Antxr2 T C 5: 98,096,186 (GRCm39) D366G possibly damaging Het
Astn2 C T 4: 65,831,978 (GRCm39) V563I probably benign Het
Atrn C A 2: 130,803,536 (GRCm39) D575E probably damaging Het
Baz1a C T 12: 54,946,882 (GRCm39) D1228N probably benign Het
Canx A G 11: 50,195,301 (GRCm39) S256P probably benign Het
Ccnt2 T A 1: 127,729,925 (GRCm39) D267E probably damaging Het
Cd209c G T 8: 3,995,905 (GRCm39) R2S probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Dchs2 A G 3: 83,261,301 (GRCm39) Y2523C probably benign Het
Dmxl2 G A 9: 54,323,892 (GRCm39) P990L probably benign Het
Dnajc9 T C 14: 20,438,279 (GRCm39) I108V probably benign Het
Eif2d T C 1: 131,092,948 (GRCm39) probably null Het
Esr1 A G 10: 4,951,215 (GRCm39) N531S probably benign Het
Fbxo2 G A 4: 148,248,883 (GRCm39) R125H probably damaging Het
Foxred1 C T 9: 35,117,300 (GRCm39) S277N possibly damaging Het
Gemin5 T C 11: 58,041,418 (GRCm39) E518G probably damaging Het
Gm17655 A G 5: 110,194,226 (GRCm39) Y519H probably benign Het
Igkv4-57-1 A T 6: 69,521,493 (GRCm39) W70R probably damaging Het
Krtap4-13 A G 11: 99,700,180 (GRCm39) S160P unknown Het
Map3k3 A G 11: 106,033,361 (GRCm39) I205V possibly damaging Het
Map3k4 A C 17: 12,490,523 (GRCm39) F303V probably benign Het
Mpdz T C 4: 81,304,504 (GRCm39) Q132R probably damaging Het
Myo10 T A 15: 25,801,227 (GRCm39) V1472E probably damaging Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nog A G 11: 89,192,396 (GRCm39) S151P probably damaging Het
Obox6 G A 7: 15,568,831 (GRCm39) S15F probably benign Het
Odf2 A G 2: 29,813,594 (GRCm39) H647R possibly damaging Het
Or6c74 A G 10: 129,869,500 (GRCm39) R2G probably benign Het
Pcdhga11 T C 18: 37,890,398 (GRCm39) S469P possibly damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pglyrp3 A G 3: 91,938,695 (GRCm39) K290R possibly damaging Het
Phactr3 G A 2: 177,898,043 (GRCm39) E86K probably damaging Het
Piezo1 A C 8: 123,225,497 (GRCm39) L530R Het
Pigg A T 5: 108,495,767 (GRCm39) I935F possibly damaging Het
Pofut2 T C 10: 77,102,759 (GRCm39) S282P possibly damaging Het
Ppfia1 A G 7: 144,071,402 (GRCm39) S337P probably benign Het
Sdr16c5 A T 4: 4,005,595 (GRCm39) D246E probably benign Het
Sgsm1 T A 5: 113,428,207 (GRCm39) H327L possibly damaging Het
Slc39a4 A G 15: 76,500,211 (GRCm39) I113T possibly damaging Het
Slc5a7 A G 17: 54,603,985 (GRCm39) probably null Het
Snx11 A G 11: 96,661,925 (GRCm39) S86P probably benign Het
Srm T A 4: 148,676,245 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,082 (GRCm39) I205T possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Tenm3 A T 8: 48,753,849 (GRCm39) S851R probably benign Het
Tnip2 A G 5: 34,654,212 (GRCm39) V288A probably benign Het
Tpx2 T A 2: 152,733,476 (GRCm39) probably null Het
Trim33 C A 3: 103,261,146 (GRCm39) T1115K possibly damaging Het
Tspan13 T A 12: 36,074,017 (GRCm39) I40F probably damaging Het
Ube2v2 T C 16: 15,394,899 (GRCm39) I91V probably benign Het
Vmn1r22 A T 6: 57,877,631 (GRCm39) F115L probably benign Het
Vmn2r7 G A 3: 64,598,407 (GRCm39) P717S probably damaging Het
Zan T C 5: 137,387,324 (GRCm39) T4910A unknown Het
Zfp599 T A 9: 22,160,741 (GRCm39) T475S probably damaging Het
Zfp638 T A 6: 83,923,301 (GRCm39) F700I probably damaging Het
Zfp985 A C 4: 147,667,618 (GRCm39) K162T possibly damaging 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
R4709:Ephb2 UTSW 4 136,423,363 (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
Predicted Primers PCR Primer
(F):5'- ACCATCCCAGACTGCCATTG -3'
(R):5'- GTGCTCCAGAGATGAATATGCTC -3'

Sequencing Primer
(F):5'- ATTGGGCGGGTCCAGGATG -3'
(R):5'- CTCCAGAGATGAATATGCTCAGCAG -3'
Posted On 2022-10-06