Incidental Mutation 'R0121:Ephb2'
ID 21024
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 038406-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R0121 (G1)
Quality Score 222
Status Validated (trace)
Chromosome 4
Chromosomal Location 136374850-136563299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136498368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 237 (I237T)
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: I237T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: I237T

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: I237T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: I237T

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: I237T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: I237T

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: ENSMUST00000144573
Meta Mutation Damage Score 0.2120 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,298,945 (GRCm39) probably null Het
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cul7 C T 17: 46,974,299 (GRCm39) L1489F probably damaging Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Nudt12 A T 17: 59,314,634 (GRCm39) S317T possibly damaging Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Pbld1 C T 10: 62,907,282 (GRCm39) probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S 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
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
R9722:Ephb2 UTSW 4 136,384,768 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAACCTCCAGCCTTGTCAGTCAG -3'
(R):5'- GTGTCCCGCAATGGTTTCTACCTG -3'

Sequencing Primer
(F):5'- CTTGTCAGTCAGAGCCCAG -3'
(R):5'- CTGGCCTTCCAGGACTATG -3'
Posted On 2013-04-11