Incidental Mutation 'R6156:Ephb2'
ID 489571
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 044303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136374850-136563299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136388816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 593 (M593L)
Ref Sequence ENSEMBL: ENSMUSP00000101471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059287] [ENSMUST00000105845] [ENSMUST00000105846]
AlphaFold P54763
Predicted Effect probably benign
Transcript: ENSMUST00000059287
AA Change: M594L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: M594L

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 benign
Transcript: ENSMUST00000105845
AA Change: M593L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: M593L

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 benign
Transcript: ENSMUST00000105846
AA Change: M594L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: M594L

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 unknown
Transcript: ENSMUST00000156558
AA Change: M262L
SMART Domains Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664
AA Change: M262L

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign 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
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'- TAAGAGGGTCCTTTGTGGCC -3'
(R):5'- CAACTCTGTGAGACCTAGATGG -3'

Sequencing Primer
(F):5'- CCCCAGGGTTACACTGTGGTC -3'
(R):5'- ACCTAGATGGGTCAGGTGAC -3'
Posted On 2017-10-10