Incidental Mutation 'R7466:Ephb2'
ID 578757
Institutional Source Beutler Lab
Gene Symbol Ephb2
Ensembl Gene ENSMUSG00000028664
Gene Name Eph receptor B2
Synonyms Erk, eteck, Tyro5, Prkm5, Drt, Hek5, Sek3, Qek5, Cek5, Nuk
MMRRC Submission 045540-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R7466 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136647539-136835988 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136659065 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 791 (R791H)
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: R792H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: R792H

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: R791H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: R791H

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: R792H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: R792H

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,088,741 (GRCm38) K203* probably null Het
Akr1c13 T C 13: 4,192,437 (GRCm38) probably benign Het
Amer3 A G 1: 34,587,993 (GRCm38) S438G probably damaging Het
Aqp9 T A 9: 71,163,261 (GRCm38) probably null Het
Art4 G T 6: 136,854,850 (GRCm38) H98N probably damaging Het
Bdh1 T C 16: 31,447,604 (GRCm38) S70P probably benign Het
Ccdc61 A C 7: 18,891,105 (GRCm38) Y503D probably damaging Het
Cd163l1 T C 7: 140,220,706 (GRCm38) probably null Het
Cd180 A T 13: 102,704,995 (GRCm38) N183I probably damaging Het
Cd200r2 C T 16: 44,909,174 (GRCm38) A64V probably damaging Het
Ceacam9 A C 7: 16,723,855 (GRCm38) K98Q probably benign Het
Cep44 AACGC A 8: 56,540,983 (GRCm38) probably null Het
Cfap77 G T 2: 28,955,613 (GRCm38) D247E probably benign Het
Cftr T C 6: 18,227,973 (GRCm38) M388T probably benign Het
Chrnb1 G A 11: 69,784,650 (GRCm38) H493Y probably damaging Het
Ckap2 A C 8: 22,177,386 (GRCm38) M153R probably benign Het
Cnot6l A G 5: 96,131,128 (GRCm38) V77A probably benign Het
Col12a1 C T 9: 79,655,407 (GRCm38) E1798K possibly damaging Het
Cth T A 3: 157,924,885 (GRCm38) D49V probably benign Het
Ctnnb1 T C 9: 120,955,416 (GRCm38) S425P probably damaging Het
Ctnnd1 T C 2: 84,610,785 (GRCm38) N690S probably benign Het
Cyhr1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Dennd4c A G 4: 86,774,331 (GRCm38) D26G probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Eef2k A G 7: 120,903,484 (GRCm38) probably null Het
Erh T C 12: 80,640,983 (GRCm38) Y22C probably benign Het
F5 C T 1: 164,193,328 (GRCm38) T1124I possibly damaging Het
Fam220a T A 5: 143,563,471 (GRCm38) C213S possibly damaging Het
Fat2 G T 11: 55,310,432 (GRCm38) N605K probably damaging Het
Ganab C A 19: 8,914,569 (GRCm38) S780* probably null Het
Gbgt1 C T 2: 28,502,207 (GRCm38) P67S probably damaging Het
Gm17190 G T 13: 96,082,779 (GRCm38) G208* probably null Het
Grhl2 A G 15: 37,291,616 (GRCm38) Y316C probably damaging Het
H2-T10 T C 17: 36,120,849 (GRCm38) T38A probably benign Het
Ins1 A G 19: 52,264,420 (GRCm38) probably benign Het
Ippk T C 13: 49,432,467 (GRCm38) probably null Het
Klc4 T A 17: 46,639,910 (GRCm38) I258F probably benign Het
Manba C A 3: 135,542,393 (GRCm38) L348I probably benign Het
Mgam A G 6: 40,744,789 (GRCm38) N347S probably benign Het
Myo18b T C 5: 112,723,892 (GRCm38) T2108A probably benign Het
Naip5 A T 13: 100,221,986 (GRCm38) L914* probably null Het
Nsa2 C T 13: 97,131,220 (GRCm38) A242T probably benign Het
Nsd2 G A 5: 33,882,147 (GRCm38) W834* probably null Het
Olfr1134 T C 2: 87,656,396 (GRCm38) N175S possibly damaging Het
Olfr1419 T A 19: 11,870,316 (GRCm38) D300V possibly damaging Het
Olfr285 T C 15: 98,313,380 (GRCm38) M57V probably damaging Het
Olfr469 A T 7: 107,822,922 (GRCm38) C182* probably null Het
Pam A T 1: 97,842,247 (GRCm38) D599E probably damaging Het
Phf20l1 A G 15: 66,636,884 (GRCm38) K864R probably damaging Het
Plcl2 A G 17: 50,608,468 (GRCm38) D835G probably damaging Het
Ppm1m C A 9: 106,196,157 (GRCm38) A329S probably damaging Het
Prep T C 10: 45,150,438 (GRCm38) V486A probably benign Het
Prkcb A T 7: 122,516,844 (GRCm38) N182I probably damaging Het
Prkcz A G 4: 155,271,602 (GRCm38) F355S probably damaging Het
Psg20 C T 7: 18,684,467 (GRCm38) S125N probably benign Het
Psmd12 A G 11: 107,492,057 (GRCm38) D234G probably benign Het
Pvrig A T 5: 138,342,008 (GRCm38) M14L probably benign Het
Rabgap1l C T 1: 160,226,484 (GRCm38) probably null Het
Rfc1 A T 5: 65,275,426 (GRCm38) C764S probably damaging Het
Ryr3 T C 2: 112,926,957 (GRCm38) D351G probably benign Het
Serpinb9g T C 13: 33,495,167 (GRCm38) F340S probably benign Het
Sirpb1c C A 3: 15,832,266 (GRCm38) L315F probably damaging Het
Slc24a1 C G 9: 64,928,404 (GRCm38) E814Q unknown Het
Slc26a11 A T 11: 119,374,502 (GRCm38) Q355L probably damaging Het
Sp100 C T 1: 85,707,239 (GRCm38) L483F possibly damaging Het
St5 A G 7: 109,525,346 (GRCm38) L1096P probably damaging Het
Ston1 T A 17: 88,635,901 (GRCm38) M245K probably benign Het
Swap70 T A 7: 110,274,772 (GRCm38) D442E probably benign Het
Syne2 T A 12: 76,046,186 (GRCm38) V450D possibly damaging Het
Tbck T A 3: 132,752,563 (GRCm38) N651K probably damaging Het
Timd4 A T 11: 46,817,758 (GRCm38) T204S probably benign Het
Tmem102 A G 11: 69,804,885 (GRCm38) L87P probably damaging Het
Tmem55a T A 4: 14,912,477 (GRCm38) Y195* probably null Het
Tmprss11e T A 5: 86,709,480 (GRCm38) T325S probably benign Het
Trpm1 G A 7: 64,240,582 (GRCm38) V978M probably damaging Het
Wdr12 A T 1: 60,094,511 (GRCm38) D19E probably benign Het
Wdr35 G A 12: 9,005,773 (GRCm38) V482I probably benign Het
Wdr63 T C 3: 146,055,618 (GRCm38) D661G probably benign Het
Zer1 T C 2: 30,101,484 (GRCm38) probably null Het
Zfp503 T C 14: 21,986,011 (GRCm38) D279G probably benign Het
Zfp870 A T 17: 32,883,762 (GRCm38) C198S possibly damaging Het
Zfyve26 C T 12: 79,287,807 (GRCm38) E146K probably benign Het
Zkscan6 T C 11: 65,828,531 (GRCm38) V459A probably damaging Het
Other mutations in Ephb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ephb2 APN 4 136,657,484 (GRCm38) missense probably damaging 0.96
IGL00963:Ephb2 APN 4 136,658,951 (GRCm38) missense probably benign 0.04
IGL01111:Ephb2 APN 4 136,657,410 (GRCm38) missense probably benign 0.01
IGL01462:Ephb2 APN 4 136,771,370 (GRCm38) missense possibly damaging 0.61
IGL01863:Ephb2 APN 4 136,659,777 (GRCm38) missense probably benign 0.03
IGL02149:Ephb2 APN 4 136,693,914 (GRCm38) missense probably damaging 1.00
IGL02232:Ephb2 APN 4 136,657,451 (GRCm38) missense probably damaging 0.97
IGL02269:Ephb2 APN 4 136,771,049 (GRCm38) missense possibly damaging 0.66
IGL02828:Ephb2 APN 4 136,771,150 (GRCm38) missense probably benign 0.09
IGL03109:Ephb2 APN 4 136,771,544 (GRCm38) missense probably damaging 1.00
IGL03284:Ephb2 APN 4 136,661,516 (GRCm38) missense probably damaging 0.96
Zimbalist UTSW 4 136,659,709 (GRCm38) missense probably damaging 1.00
BB006:Ephb2 UTSW 4 136,660,884 (GRCm38) missense probably damaging 1.00
BB016:Ephb2 UTSW 4 136,660,884 (GRCm38) missense probably damaging 1.00
PIT4453001:Ephb2 UTSW 4 136,660,810 (GRCm38) missense probably benign 0.00
R0004:Ephb2 UTSW 4 136,657,524 (GRCm38) missense probably damaging 1.00
R0121:Ephb2 UTSW 4 136,771,057 (GRCm38) missense probably damaging 0.99
R0539:Ephb2 UTSW 4 136,655,976 (GRCm38) missense probably damaging 1.00
R0614:Ephb2 UTSW 4 136,673,365 (GRCm38) missense probably benign 0.00
R0988:Ephb2 UTSW 4 136,659,708 (GRCm38) missense possibly damaging 0.59
R1471:Ephb2 UTSW 4 136,658,951 (GRCm38) missense probably benign 0.04
R1473:Ephb2 UTSW 4 136,694,058 (GRCm38) missense possibly damaging 0.83
R1546:Ephb2 UTSW 4 136,771,009 (GRCm38) missense probably damaging 0.99
R1639:Ephb2 UTSW 4 136,693,905 (GRCm38) missense probably benign 0.10
R1725:Ephb2 UTSW 4 136,659,778 (GRCm38) nonsense probably null
R1779:Ephb2 UTSW 4 136,693,825 (GRCm38) missense possibly damaging 0.64
R1818:Ephb2 UTSW 4 136,655,336 (GRCm38) missense probably benign 0.02
R2099:Ephb2 UTSW 4 136,660,755 (GRCm38) missense probably damaging 1.00
R2916:Ephb2 UTSW 4 136,683,945 (GRCm38) missense probably damaging 0.99
R3885:Ephb2 UTSW 4 136,771,034 (GRCm38) missense probably damaging 1.00
R4572:Ephb2 UTSW 4 136,655,940 (GRCm38) missense probably damaging 1.00
R4709:Ephb2 UTSW 4 136,696,052 (GRCm38) missense probably damaging 1.00
R4893:Ephb2 UTSW 4 136,659,753 (GRCm38) missense probably damaging 0.99
R4981:Ephb2 UTSW 4 136,696,010 (GRCm38) missense probably benign 0.09
R4992:Ephb2 UTSW 4 136,660,839 (GRCm38) missense probably damaging 1.00
R5004:Ephb2 UTSW 4 136,659,699 (GRCm38) missense possibly damaging 0.77
R5307:Ephb2 UTSW 4 136,693,787 (GRCm38) missense possibly damaging 0.89
R5370:Ephb2 UTSW 4 136,771,570 (GRCm38) missense probably benign 0.00
R5561:Ephb2 UTSW 4 136,661,406 (GRCm38) missense probably damaging 1.00
R5643:Ephb2 UTSW 4 136,771,612 (GRCm38) missense probably damaging 0.99
R5826:Ephb2 UTSW 4 136,660,737 (GRCm38) missense probably damaging 1.00
R5858:Ephb2 UTSW 4 136,672,445 (GRCm38) missense probably benign
R5867:Ephb2 UTSW 4 136,675,422 (GRCm38) missense possibly damaging 0.81
R5990:Ephb2 UTSW 4 136,696,055 (GRCm38) missense probably benign 0.03
R6000:Ephb2 UTSW 4 136,684,030 (GRCm38) missense possibly damaging 0.76
R6156:Ephb2 UTSW 4 136,661,505 (GRCm38) missense probably benign 0.44
R6413:Ephb2 UTSW 4 136,771,122 (GRCm38) missense probably benign 0.08
R6577:Ephb2 UTSW 4 136,657,550 (GRCm38) missense probably damaging 0.99
R6633:Ephb2 UTSW 4 136,683,996 (GRCm38) missense probably benign 0.07
R6720:Ephb2 UTSW 4 136,657,502 (GRCm38) missense probably damaging 0.99
R6795:Ephb2 UTSW 4 136,673,335 (GRCm38) missense possibly damaging 0.88
R7235:Ephb2 UTSW 4 136,693,828 (GRCm38) missense probably damaging 1.00
R7260:Ephb2 UTSW 4 136,771,574 (GRCm38) missense probably damaging 0.96
R7328:Ephb2 UTSW 4 136,658,934 (GRCm38) critical splice donor site probably null
R7404:Ephb2 UTSW 4 136,771,213 (GRCm38) missense probably damaging 1.00
R7524:Ephb2 UTSW 4 136,659,709 (GRCm38) missense probably damaging 1.00
R7605:Ephb2 UTSW 4 136,771,108 (GRCm38) missense probably damaging 1.00
R7611:Ephb2 UTSW 4 136,660,901 (GRCm38) critical splice acceptor site probably null
R7777:Ephb2 UTSW 4 136,771,636 (GRCm38) missense possibly damaging 0.92
R7889:Ephb2 UTSW 4 136,771,042 (GRCm38) missense probably damaging 0.99
R7929:Ephb2 UTSW 4 136,660,884 (GRCm38) missense probably damaging 1.00
R8191:Ephb2 UTSW 4 136,658,945 (GRCm38) missense probably damaging 0.96
R8370:Ephb2 UTSW 4 136,655,991 (GRCm38) missense possibly damaging 0.95
R8444:Ephb2 UTSW 4 136,661,400 (GRCm38) missense probably damaging 1.00
R8724:Ephb2 UTSW 4 136,771,057 (GRCm38) missense probably damaging 0.99
R8988:Ephb2 UTSW 4 136,675,458 (GRCm38) missense probably benign 0.42
R9410:Ephb2 UTSW 4 136,659,637 (GRCm38) missense probably null 1.00
R9722:Ephb2 UTSW 4 136,657,457 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAACACAAGGCCAAGGGTC -3'
(R):5'- TGGAATCCAGATGGCAGTGC -3'

Sequencing Primer
(F):5'- AAGGGTCCCTGATCTTGCC -3'
(R):5'- CAGATGGCAGTGCTGGGG -3'
Posted On 2019-10-07