Incidental Mutation 'R6183:Ephb1'
ID 487630
Institutional Source Beutler Lab
Gene Symbol Ephb1
Ensembl Gene ENSMUSG00000032537
Gene Name Eph receptor B1
Synonyms Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 101799327-102231892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102072524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 85 (I85N)
Ref Sequence ENSEMBL: ENSMUSP00000139470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035129] [ENSMUST00000085169] [ENSMUST00000149800]
AlphaFold Q8CBF3
Predicted Effect probably damaging
Transcript: ENSMUST00000035129
AA Change: I85N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: I85N

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: I85N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: I85N

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 probably damaging
Transcript: ENSMUST00000149800
AA Change: I85N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139470
Gene: ENSMUSG00000032537
AA Change: I85N

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EPH_lbd 19 196 1.69e-129 SMART
FN3 323 416 2.44e-5 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly damaging 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
R1645:Ephb1 UTSW 9 101,804,758 (GRCm39) missense probably damaging 1.00
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
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'- TCTCATCTGCAGCAATGGTG -3'
(R):5'- GCCACTGAGATTCCCTTCTGTG -3'

Sequencing Primer
(F):5'- ATCTGCAGCAATGGTGTCCAC -3'
(R):5'- GAGATTCCCTTCTGTGTTGACCATTG -3'
Posted On 2017-10-10