Incidental Mutation 'R8191:Ephb2'
ID 635142
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 067614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R8191 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 136374850-136563299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136386256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 832 (T832I)
Ref Sequence ENSEMBL: ENSMUSP00000058135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059287] [ENSMUST00000105845] [ENSMUST00000105846]
AlphaFold P54763
Predicted Effect probably damaging
Transcript: ENSMUST00000059287
AA Change: T832I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: T832I

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: T831I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: T831I

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 possibly damaging
Transcript: ENSMUST00000105846
AA Change: T832I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: T832I

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: 99.5%
  • 20x: 98.4%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik G A 16: 3,724,918 (GRCm39) R49W probably damaging Het
Adamts4 T C 1: 171,080,292 (GRCm39) S282P Het
Aqp4 A G 18: 15,531,222 (GRCm39) S180P probably benign Het
Armc2 T G 10: 41,839,747 (GRCm39) E406A probably benign Het
Atp13a3 A T 16: 30,168,598 (GRCm39) Y464N probably damaging Het
B3gnt3 C A 8: 72,146,122 (GRCm39) V136L probably benign Het
Cacna1s C T 1: 136,035,893 (GRCm39) H1378Y probably damaging Het
Ccnk A T 12: 108,159,933 (GRCm39) E138D probably benign Het
Cenpe A G 3: 134,957,375 (GRCm39) K1878E probably benign Het
Cep57l1 T A 10: 41,616,955 (GRCm39) I111L probably damaging Het
Cfap298 G T 16: 90,727,889 (GRCm39) N100K probably damaging Het
Copg2 T C 6: 30,790,665 (GRCm39) I509V probably benign Het
Cux2 T A 5: 122,012,217 (GRCm39) D406V probably benign Het
Cyp2a12 G T 7: 26,730,529 (GRCm39) A165S probably benign Het
Dnaaf5 T G 5: 139,167,250 (GRCm39) S719A probably benign Het
Dnah7c A G 1: 46,646,618 (GRCm39) I1220V possibly damaging Het
Dnai3 G T 3: 145,800,066 (GRCm39) P158H probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dusp10 T A 1: 183,769,749 (GRCm39) D238E possibly damaging Het
Dync1li1 C A 9: 114,538,253 (GRCm39) D203E probably benign Het
Ecpas A T 4: 58,872,587 (GRCm39) probably null Het
Eif5b T C 1: 38,075,283 (GRCm39) S587P probably damaging Het
Exoc1 T A 5: 76,707,674 (GRCm39) probably null Het
Fam193a T A 5: 34,597,917 (GRCm39) N571K probably damaging Het
Fem1a T A 17: 56,565,356 (GRCm39) I483N probably damaging Het
Fgf20 C A 8: 40,761,361 (GRCm39) probably benign Het
Fkbp1a C T 2: 151,399,356 (GRCm39) P98S Het
Gpsm3 A T 17: 34,809,451 (GRCm39) D19V probably benign Het
Ido2 C A 8: 25,023,696 (GRCm39) G381W probably damaging Het
Ifi204 T C 1: 173,579,226 (GRCm39) T540A possibly damaging Het
Isl1 A T 13: 116,441,954 (GRCm39) M93K probably benign Het
Map3k10 T A 7: 27,362,671 (GRCm39) S472C probably damaging Het
Mcrs1 A T 15: 99,141,206 (GRCm39) V432E probably damaging Het
Metap2 A G 10: 93,701,267 (GRCm39) probably null Het
Muc5b A G 7: 141,421,421 (GRCm39) S4304G probably benign Het
Myef2l G T 3: 10,153,914 (GRCm39) V228F probably damaging Het
Nell1 T C 7: 50,098,622 (GRCm39) V308A unknown Het
Or10g1b A G 14: 52,627,987 (GRCm39) V81A probably benign Het
Or4d5 A T 9: 40,012,767 (GRCm39) H6Q probably benign Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Pnpla6 T C 8: 3,592,382 (GRCm39) S1224P probably benign Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rnpep T C 1: 135,200,172 (GRCm39) E261G possibly damaging Het
Robo1 C A 16: 72,730,142 (GRCm39) S194R probably damaging Het
Rpusd1 C G 17: 25,947,611 (GRCm39) Y99* probably null Het
Scarf1 T C 11: 75,413,065 (GRCm39) M437T probably benign Het
Sh3tc2 G T 18: 62,106,429 (GRCm39) D153Y probably damaging Het
Siglec1 T C 2: 130,927,599 (GRCm39) Y69C probably damaging Het
Slc25a34 T C 4: 141,347,895 (GRCm39) Y262C probably damaging Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
St6galnac2 T C 11: 116,572,748 (GRCm39) Y236C probably damaging Het
Stac3 T A 10: 127,344,068 (GRCm39) I322N probably damaging Het
Tcaf1 T C 6: 42,652,190 (GRCm39) Q764R probably damaging Het
Tcf20 G A 15: 82,737,606 (GRCm39) R1282* probably null Het
Tlr2 T A 3: 83,743,821 (GRCm39) K754M probably damaging Het
Tlr2 T G 3: 83,743,822 (GRCm39) K754Q probably damaging Het
Tnn C T 1: 159,953,088 (GRCm39) V651M probably damaging Het
Ttn T C 2: 76,701,083 (GRCm39) H9622R unknown Het
Tubgcp6 C T 15: 89,004,843 (GRCm39) G259S probably damaging Het
Ubr5 C A 15: 38,006,751 (GRCm39) C1174F Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vit C T 17: 78,853,828 (GRCm39) H25Y probably benign Het
Vmn1r177 G A 7: 23,565,736 (GRCm39) Q47* probably null Het
Vmn2r104 A T 17: 20,250,465 (GRCm39) V602D possibly damaging Het
Vmn2r115 A G 17: 23,578,530 (GRCm39) T668A probably damaging Het
Vmn2r125 T G 4: 156,703,709 (GRCm39) C362W probably damaging Het
Vwa7 A G 17: 35,238,712 (GRCm39) T267A probably damaging Het
Xpa C A 4: 46,183,225 (GRCm39) R188L possibly damaging Het
Zfp143 C T 7: 109,676,364 (GRCm39) T249I probably damaging Het
Zfp607a A G 7: 27,578,868 (GRCm39) E646G possibly damaging Het
Zfp729a A T 13: 67,769,838 (GRCm39) S130R probably benign Het
Zswim3 C A 2: 164,662,128 (GRCm39) Q203K probably 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
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'- CCGATGCACAACTGGTTCTG -3'
(R):5'- GCGCGGTATAGAGAGTATCAGTC -3'

Sequencing Primer
(F):5'- CACAACTGGTTCTGTGAAGAGGTC -3'
(R):5'- TAGAGAGTATCAGTCAGGTCACTAC -3'
Posted On 2020-07-13