Incidental Mutation 'R6720:Ephb2'
ID 529531
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 044838-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R6720 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136647539-136835988 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136657502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 866 (D866G)
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: D867G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: D867G

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: D866G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: D866G

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: D867G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: D867G

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 noncoding transcript
Transcript: ENSMUST00000151502
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 0.5784 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.6%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,454,686 (GRCm38) E51K possibly damaging Het
Abca1 A C 4: 53,083,733 (GRCm38) L700R probably damaging Het
Arpc1a C A 5: 145,101,222 (GRCm38) probably null Het
Baz2b G T 2: 59,924,890 (GRCm38) P241Q probably damaging Het
Cd6 T A 19: 10,794,609 (GRCm38) T414S probably benign Het
Ces2b A T 8: 104,836,869 (GRCm38) E409D probably benign Het
Cfap54 A G 10: 92,821,119 (GRCm38) Y3024H probably benign Het
Chrm1 A G 19: 8,678,548 (GRCm38) T206A probably benign Het
Clptm1l T C 13: 73,618,516 (GRCm38) W512R probably damaging Het
Col15a1 T A 4: 47,247,552 (GRCm38) probably null Het
Cox15 A G 19: 43,736,789 (GRCm38) S392P probably damaging Het
Cr2 T C 1: 195,155,200 (GRCm38) M1197V probably damaging Het
Ddx60 A G 8: 62,000,689 (GRCm38) K1281E probably benign Het
Dnah11 A G 12: 118,045,646 (GRCm38) F2094L probably damaging Het
Ear2 T A 14: 44,102,959 (GRCm38) C25S probably damaging Het
Ect2l T C 10: 18,140,264 (GRCm38) D802G probably damaging Het
Eftud2 G A 11: 102,838,623 (GRCm38) Q84* probably null Het
Eif4g3 T A 4: 138,175,832 (GRCm38) probably null Het
Fam129b T A 2: 32,905,826 (GRCm38) V22D probably damaging Het
Farsb A G 1: 78,472,497 (GRCm38) M99T probably damaging Het
Foxs1 T A 2: 152,932,720 (GRCm38) S138C probably damaging Het
Frem1 T G 4: 83,013,832 (GRCm38) S211R probably damaging Het
Gm19410 G A 8: 35,807,576 (GRCm38) R1517Q probably benign Het
Gria2 T C 3: 80,802,304 (GRCm38) I27M probably benign Het
H2-Q7 A G 17: 35,442,678 (GRCm38) E299G probably benign Het
Hao2 T G 3: 98,877,135 (GRCm38) I305L probably benign Het
Hectd4 C T 5: 121,307,381 (GRCm38) Q122* probably null Het
Hivep1 T A 13: 42,164,284 (GRCm38) C2079S probably damaging Het
Hoxb1 C A 11: 96,366,987 (GRCm38) Q248K probably damaging Het
Hspb6 A G 7: 30,554,347 (GRCm38) D95G probably benign Het
Ighv5-2 T A 12: 113,578,506 (GRCm38) R117S probably damaging Het
Ino80d A C 1: 63,058,610 (GRCm38) S708R probably damaging Het
Lman1l A G 9: 57,614,072 (GRCm38) probably null Het
Mmp15 A G 8: 95,365,314 (GRCm38) N51D probably benign Het
Naip1 T C 13: 100,423,077 (GRCm38) M1140V probably benign Het
Olfr1053 A G 2: 86,315,065 (GRCm38) S74P probably damaging Het
Olfr1373 A G 11: 52,144,693 (GRCm38) V279A probably benign Het
Olfr397 A G 11: 73,965,465 (GRCm38) N286D probably damaging Het
Olfr890 T A 9: 38,143,153 (GRCm38) M1K probably null Het
Pard3b A T 1: 62,159,470 (GRCm38) N239I probably damaging Het
Parvb C T 15: 84,297,979 (GRCm38) R237W probably damaging Het
Pcdha9 T C 18: 36,998,069 (GRCm38) S64P probably damaging Het
Pdcd1 T C 1: 94,041,389 (GRCm38) N68S probably benign Het
Pi4ka G T 16: 17,326,052 (GRCm38) probably null Het
Plekha4 A T 7: 45,540,886 (GRCm38) D359V possibly damaging Het
Serpinb13 A G 1: 106,994,062 (GRCm38) I78V probably benign Het
Slc39a7 T A 17: 34,030,108 (GRCm38) T269S probably benign Het
Sltm T G 9: 70,573,710 (GRCm38) D281E probably damaging Het
Zfp708 T C 13: 67,071,432 (GRCm38) Y76C probably damaging Het
Zfp990 T A 4: 145,536,927 (GRCm38) V165D possibly 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
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
R7466:Ephb2 UTSW 4 136,659,065 (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'- ACCATCCCAGACTGCCATTG -3'
(R):5'- CTCCAGAGATGAATATGCTCAGCAG -3'

Sequencing Primer
(F):5'- TCCAGGATGGCACCCAGAG -3'
(R):5'- AACGCCATTGAACAGGAC -3'
Posted On 2018-08-01