Incidental Mutation 'R1645:Ephb1'
ID 173823
Institutional Source Beutler Lab
Gene Symbol Ephb1
Ensembl Gene ENSMUSG00000032537
Gene Name Eph receptor B1
Synonyms Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk
MMRRC Submission 039681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1645 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 101799327-102231892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101804758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 928 (Y928H)
Ref Sequence ENSEMBL: ENSMUSP00000035129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035129] [ENSMUST00000085169]
AlphaFold Q8CBF3
Predicted Effect probably damaging
Transcript: ENSMUST00000035129
AA Change: Y928H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: Y928H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EPH_lbd 19 196 1.69e-129 SMART
FN3 323 416 2.44e-5 SMART
FN3 434 515 2.26e-9 SMART
Pfam:EphA2_TM 542 616 3e-24 PFAM
TyrKc 619 878 6.45e-141 SMART
SAM 908 975 1.22e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085169
AA Change: Y887H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: Y887H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EPH_lbd 19 196 1.69e-129 SMART
FN3 323 416 2.44e-5 SMART
FN3 434 515 2.26e-9 SMART
transmembrane domain 541 563 N/A INTRINSIC
TyrKc 585 837 2.35e-134 SMART
SAM 867 934 1.22e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217184
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract. Homozygotes for one null allele show reduced corticospinal tract and abnormal anterior commissure axon crossing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,948,926 (GRCm39) M1732V probably benign Het
Acvr1 A T 2: 58,352,911 (GRCm39) C350S probably damaging Het
Adgrl2 A T 3: 148,571,244 (GRCm39) V130D probably damaging Het
Anapc1 A G 2: 128,500,166 (GRCm39) probably null Het
Asap1 A T 15: 63,961,324 (GRCm39) V1116E probably damaging Het
Bcas1 T A 2: 170,229,087 (GRCm39) D308V probably damaging Het
Brca1 G A 11: 101,400,879 (GRCm39) H1468Y probably benign Het
C2cd5 A G 6: 142,995,852 (GRCm39) C421R probably damaging Het
C4b A G 17: 34,959,571 (GRCm39) S363P probably damaging Het
Camk2b A T 11: 5,922,719 (GRCm39) C484S probably damaging Het
Cby2 C A 14: 75,821,089 (GRCm39) R212L probably benign Het
Ccny T C 18: 9,345,199 (GRCm39) T192A probably damaging Het
Chl1 G T 6: 103,660,141 (GRCm39) A356S probably benign Het
Dst T A 1: 34,264,803 (GRCm39) Y4850N probably damaging Het
Dyrk4 C A 6: 126,871,756 (GRCm39) E171* probably null Het
Entrep3 C A 3: 89,094,154 (GRCm39) D322E possibly damaging Het
Fam114a2 A T 11: 57,390,621 (GRCm39) N304K probably benign Het
Fras1 A T 5: 96,848,445 (GRCm39) D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 (GRCm39) probably null Het
Gm6358 T C 16: 88,937,967 (GRCm39) W69R unknown Het
Ikbkb C A 8: 23,181,082 (GRCm39) S127I probably damaging Het
Impa1 A T 3: 10,393,501 (GRCm39) M48K possibly damaging Het
Klra2 A T 6: 131,220,857 (GRCm39) probably null Het
Lama1 A T 17: 68,044,677 (GRCm39) Y192F probably benign Het
Lama2 T A 10: 27,244,981 (GRCm39) T267S probably damaging Het
Mroh7 G A 4: 106,577,865 (GRCm39) T271I probably benign Het
Myo9b A G 8: 71,775,622 (GRCm39) E348G probably damaging Het
Nrp2 C T 1: 62,824,283 (GRCm39) P796L probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or10al4 A T 17: 38,037,229 (GRCm39) T114S probably benign Het
Or51i1 A G 7: 103,671,210 (GRCm39) F105S probably damaging Het
Or9k7 T A 10: 130,046,081 (GRCm39) D306V probably damaging Het
P3h2 T A 16: 25,815,982 (GRCm39) H177L probably damaging Het
Pcdhb16 T C 18: 37,612,423 (GRCm39) I461T probably benign Het
Pdlim3 A G 8: 46,349,785 (GRCm39) I32V probably benign Het
Pigu A C 2: 155,170,598 (GRCm39) Y143* probably null Het
Prkd3 A C 17: 79,263,949 (GRCm39) probably null Het
Psrc1 C T 3: 108,292,554 (GRCm39) R116W probably damaging Het
Rab5b A G 10: 128,522,695 (GRCm39) S29P possibly damaging Het
Rbm26 A G 14: 105,388,253 (GRCm39) V403A probably damaging Het
Rbm47 G T 5: 66,184,481 (GRCm39) R41S probably benign Het
Rngtt A G 4: 33,362,939 (GRCm39) I364M probably damaging Het
Ryr2 A T 13: 11,733,368 (GRCm39) C2271* probably null Het
Shcbp1 T A 8: 4,799,645 (GRCm39) Q277L probably benign Het
Sntg1 T C 1: 8,874,155 (GRCm39) T5A probably benign Het
Snx24 T C 18: 53,522,634 (GRCm39) F163S probably benign Het
Srp72 T C 5: 77,146,125 (GRCm39) V581A probably benign Het
Srrt T A 5: 137,300,401 (GRCm39) K59* probably null Het
Tnrc6b A G 15: 80,767,159 (GRCm39) T975A probably damaging Het
Vmn1r174 G A 7: 23,453,777 (GRCm39) V148I possibly damaging Het
Vmn2r115 T A 17: 23,565,192 (GRCm39) C360S possibly damaging Het
Vwa8 A T 14: 79,420,427 (GRCm39) Q1709H probably damaging Het
Wdr11 A G 7: 129,215,613 (GRCm39) T526A probably benign Het
Zfp532 C A 18: 65,820,335 (GRCm39) N973K probably benign Het
Other mutations in Ephb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Ephb1 APN 9 101,873,986 (GRCm39) missense probably damaging 1.00
IGL01910:Ephb1 APN 9 101,879,056 (GRCm39) missense probably benign 0.00
IGL02006:Ephb1 APN 9 102,071,971 (GRCm39) critical splice donor site probably null
IGL02660:Ephb1 APN 9 101,918,291 (GRCm39) missense possibly damaging 0.94
IGL02685:Ephb1 APN 9 101,918,302 (GRCm39) nonsense probably null
IGL02802:Ephb1 UTSW 9 101,887,218 (GRCm39) missense possibly damaging 0.87
R0098:Ephb1 UTSW 9 101,918,339 (GRCm39) missense probably damaging 0.98
R0098:Ephb1 UTSW 9 101,918,339 (GRCm39) missense probably damaging 0.98
R0180:Ephb1 UTSW 9 101,804,703 (GRCm39) missense probably damaging 0.99
R0488:Ephb1 UTSW 9 101,841,207 (GRCm39) missense probably damaging 1.00
R0511:Ephb1 UTSW 9 101,873,179 (GRCm39) splice site probably benign
R0601:Ephb1 UTSW 9 102,072,329 (GRCm39) missense probably damaging 1.00
R1622:Ephb1 UTSW 9 101,878,910 (GRCm39) missense probably benign 0.00
R1643:Ephb1 UTSW 9 101,874,024 (GRCm39) missense probably damaging 0.99
R1914:Ephb1 UTSW 9 101,806,577 (GRCm39) missense probably damaging 1.00
R1964:Ephb1 UTSW 9 101,848,322 (GRCm39) missense possibly damaging 0.93
R2245:Ephb1 UTSW 9 101,873,973 (GRCm39) splice site probably benign
R2247:Ephb1 UTSW 9 101,874,010 (GRCm39) missense probably damaging 0.98
R2412:Ephb1 UTSW 9 101,879,015 (GRCm39) missense possibly damaging 0.85
R3716:Ephb1 UTSW 9 102,071,999 (GRCm39) missense probably damaging 1.00
R3756:Ephb1 UTSW 9 101,918,238 (GRCm39) missense probably benign 0.01
R3797:Ephb1 UTSW 9 101,848,466 (GRCm39) missense probably damaging 1.00
R3907:Ephb1 UTSW 9 101,878,925 (GRCm39) missense probably benign 0.00
R4981:Ephb1 UTSW 9 101,918,159 (GRCm39) missense probably benign
R5112:Ephb1 UTSW 9 101,848,378 (GRCm39) missense probably damaging 1.00
R5507:Ephb1 UTSW 9 101,813,315 (GRCm39) missense probably damaging 1.00
R5745:Ephb1 UTSW 9 102,072,633 (GRCm39) missense probably benign 0.25
R6082:Ephb1 UTSW 9 101,848,303 (GRCm39) missense probably damaging 1.00
R6183:Ephb1 UTSW 9 102,072,524 (GRCm39) missense probably damaging 1.00
R6228:Ephb1 UTSW 9 101,800,783 (GRCm39) missense probably damaging 1.00
R6572:Ephb1 UTSW 9 101,944,097 (GRCm39) missense probably benign
R6596:Ephb1 UTSW 9 102,072,001 (GRCm39) nonsense probably null
R6813:Ephb1 UTSW 9 101,887,247 (GRCm39) missense possibly damaging 0.87
R6876:Ephb1 UTSW 9 101,861,319 (GRCm39) missense probably damaging 1.00
R6922:Ephb1 UTSW 9 101,806,463 (GRCm39) splice site probably null
R6950:Ephb1 UTSW 9 102,072,108 (GRCm39) missense probably benign 0.03
R7144:Ephb1 UTSW 9 101,841,276 (GRCm39) missense probably damaging 1.00
R7146:Ephb1 UTSW 9 101,841,157 (GRCm39) missense probably damaging 1.00
R7328:Ephb1 UTSW 9 102,072,438 (GRCm39) missense probably damaging 1.00
R7644:Ephb1 UTSW 9 101,813,393 (GRCm39) missense probably damaging 1.00
R7737:Ephb1 UTSW 9 101,861,302 (GRCm39) missense probably damaging 1.00
R8109:Ephb1 UTSW 9 101,918,222 (GRCm39) missense probably damaging 1.00
R8161:Ephb1 UTSW 9 102,072,012 (GRCm39) missense probably damaging 1.00
R8486:Ephb1 UTSW 9 101,841,164 (GRCm39) missense probably benign 0.00
R8958:Ephb1 UTSW 9 102,072,614 (GRCm39) missense probably damaging 1.00
R9502:Ephb1 UTSW 9 101,918,486 (GRCm39) missense probably damaging 1.00
R9627:Ephb1 UTSW 9 101,918,468 (GRCm39) missense possibly damaging 0.94
R9715:Ephb1 UTSW 9 101,848,384 (GRCm39) missense probably damaging 1.00
X0064:Ephb1 UTSW 9 101,848,471 (GRCm39) missense probably damaging 1.00
Z1088:Ephb1 UTSW 9 101,861,344 (GRCm39) missense probably damaging 0.99
Z1176:Ephb1 UTSW 9 102,100,597 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCCATAATGCCGGTTCTACACAG -3'
(R):5'- CACGCCATGCTTTTCAAATAGCAGG -3'

Sequencing Primer
(F):5'- GGTTCTACACAGAGAAGCTCATTC -3'
(R):5'- TGTCTTACCAGGCCTTCCCAA -3'
Posted On 2014-04-24