Incidental Mutation 'IGL02245:Ephb3'
ID 286135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephb3
Ensembl Gene ENSMUSG00000005958
Gene Name Eph receptor B3
Synonyms Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL02245
Quality Score
Status
Chromosome 16
Chromosomal Location 21023530-21042054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21040174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 512 (V512A)
Ref Sequence ENSEMBL: ENSMUSP00000124375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063]
AlphaFold P54754
Predicted Effect probably benign
Transcript: ENSMUST00000006112
AA Change: V766A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: V766A

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
EPH_lbd 31 204 6.47e-126 SMART
Pfam:GCC2_GCC3 269 312 5.8e-9 PFAM
FN3 332 430 8.43e-9 SMART
FN3 448 527 2.72e-12 SMART
Pfam:EphA2_TM 555 625 1e-24 PFAM
TyrKc 628 887 1.35e-134 SMART
SAM 917 984 3.88e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160053
Predicted Effect probably benign
Transcript: ENSMUST00000161063
AA Change: V512A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,772 (GRCm39) I1398V probably benign Het
Abca5 G A 11: 110,188,995 (GRCm39) Q821* probably null Het
Bcl9 A T 3: 97,116,009 (GRCm39) L895Q probably damaging Het
Cpne7 A G 8: 123,844,357 (GRCm39) D41G probably damaging Het
Daxx A G 17: 34,131,351 (GRCm39) probably benign Het
Dbx2 A G 15: 95,522,628 (GRCm39) Y360H probably damaging Het
Dpy19l2 T C 9: 24,607,321 (GRCm39) T47A probably benign Het
Exoc2 T C 13: 31,090,842 (GRCm39) D254G probably benign Het
Gtpbp1 G T 15: 79,575,127 (GRCm39) R7L probably benign Het
Gucy2c A T 6: 136,706,201 (GRCm39) I500N probably benign Het
H2ac6 A T 13: 23,867,783 (GRCm39) Y40N probably damaging Het
H2ac6 G T 13: 23,867,784 (GRCm39) N39K possibly damaging Het
Hormad2 T C 11: 4,358,580 (GRCm39) probably benign Het
Impg2 A G 16: 56,089,445 (GRCm39) Q1130R probably damaging Het
Itga4 T A 2: 79,150,903 (GRCm39) D836E probably benign Het
Loxhd1 A T 18: 77,427,797 (GRCm39) T456S possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Mre11a C T 9: 14,726,572 (GRCm39) probably benign Het
Myh1 A C 11: 67,102,313 (GRCm39) E868A possibly damaging Het
Nlrp4e T G 7: 23,020,300 (GRCm39) S262R probably damaging Het
Nlrp9a C T 7: 26,257,318 (GRCm39) T223I probably benign Het
Nosip A G 7: 44,723,466 (GRCm39) D44G probably benign Het
Nr6a1 C T 2: 38,630,565 (GRCm39) M217I probably benign Het
Numa1 A G 7: 101,649,601 (GRCm39) T1111A probably benign Het
Or6c6c T A 10: 129,541,608 (GRCm39) I287N probably damaging Het
Pms1 A G 1: 53,246,519 (GRCm39) L340P probably damaging Het
Prmt7 T C 8: 106,963,937 (GRCm39) V277A probably benign Het
Pxmp4 T C 2: 154,429,870 (GRCm39) Y173C probably damaging Het
Rbm11 G T 16: 75,389,896 (GRCm39) V21L possibly damaging Het
Rims1 A G 1: 22,416,712 (GRCm39) S1123P probably damaging Het
Rnf220 C T 4: 117,156,734 (GRCm39) probably benign Het
Rnf41 T G 10: 128,273,196 (GRCm39) *123G probably null Het
Samhd1 C T 2: 156,952,475 (GRCm39) D426N possibly damaging Het
Scn10a A G 9: 119,501,218 (GRCm39) W189R probably damaging Het
Slco1a6 A G 6: 142,055,150 (GRCm39) F265L probably damaging Het
Spag16 A G 1: 69,897,661 (GRCm39) D137G probably benign Het
Srsf12 G A 4: 33,209,103 (GRCm39) probably benign Het
Suclg2 A G 6: 95,572,722 (GRCm39) I81T possibly damaging Het
Tmc1 C T 19: 20,776,556 (GRCm39) R601H probably damaging Het
Trim33 T C 3: 103,254,086 (GRCm39) probably null Het
Vit A G 17: 78,932,480 (GRCm39) D529G probably damaging Het
Wbp1l C T 19: 46,643,057 (GRCm39) H353Y possibly damaging Het
Wdr70 A T 15: 8,075,965 (GRCm39) V170D possibly damaging Het
Ythdc2 T A 18: 44,995,751 (GRCm39) I947N possibly damaging Het
Zfp280b T C 10: 75,875,197 (GRCm39) S359P probably benign Het
Zfp936 T C 7: 42,836,722 (GRCm39) probably null Het
Zscan4d T A 7: 10,896,716 (GRCm39) Y218F probably benign Het
Other mutations in Ephb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ephb3 APN 16 21,039,165 (GRCm39) splice site probably null
IGL00966:Ephb3 APN 16 21,036,044 (GRCm39) missense probably benign 0.00
IGL02166:Ephb3 APN 16 21,039,499 (GRCm39) missense probably damaging 1.00
IGL02321:Ephb3 APN 16 21,033,139 (GRCm39) missense probably damaging 1.00
IGL02337:Ephb3 APN 16 21,040,253 (GRCm39) splice site probably null
IGL02507:Ephb3 APN 16 21,039,389 (GRCm39) splice site probably benign
IGL02755:Ephb3 APN 16 21,040,448 (GRCm39) missense probably damaging 1.00
IGL02806:Ephb3 APN 16 21,041,031 (GRCm39) missense probably benign 0.02
PIT4362001:Ephb3 UTSW 16 21,039,607 (GRCm39) missense probably damaging 1.00
R0026:Ephb3 UTSW 16 21,033,667 (GRCm39) missense probably damaging 1.00
R0194:Ephb3 UTSW 16 21,036,859 (GRCm39) missense probably benign 0.01
R0196:Ephb3 UTSW 16 21,036,804 (GRCm39) missense probably damaging 1.00
R0230:Ephb3 UTSW 16 21,039,525 (GRCm39) missense probably damaging 1.00
R0828:Ephb3 UTSW 16 21,037,784 (GRCm39) unclassified probably benign
R1126:Ephb3 UTSW 16 21,041,226 (GRCm39) missense possibly damaging 0.87
R1460:Ephb3 UTSW 16 21,037,672 (GRCm39) missense probably benign
R1592:Ephb3 UTSW 16 21,040,450 (GRCm39) missense probably damaging 1.00
R1632:Ephb3 UTSW 16 21,031,687 (GRCm39) missense probably benign 0.00
R1694:Ephb3 UTSW 16 21,040,495 (GRCm39) missense probably damaging 1.00
R1719:Ephb3 UTSW 16 21,039,400 (GRCm39) missense probably damaging 1.00
R1777:Ephb3 UTSW 16 21,035,985 (GRCm39) missense probably damaging 0.99
R1928:Ephb3 UTSW 16 21,041,045 (GRCm39) missense possibly damaging 0.86
R1956:Ephb3 UTSW 16 21,040,132 (GRCm39) missense probably damaging 1.00
R2378:Ephb3 UTSW 16 21,036,993 (GRCm39) missense probably benign
R3408:Ephb3 UTSW 16 21,038,254 (GRCm39) missense probably damaging 0.99
R4027:Ephb3 UTSW 16 21,040,447 (GRCm39) missense probably damaging 1.00
R4429:Ephb3 UTSW 16 21,033,213 (GRCm39) missense probably damaging 1.00
R4655:Ephb3 UTSW 16 21,040,958 (GRCm39) missense probably damaging 0.98
R4826:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4828:Ephb3 UTSW 16 21,033,745 (GRCm39) missense possibly damaging 0.90
R4960:Ephb3 UTSW 16 21,039,245 (GRCm39) missense probably benign 0.09
R5057:Ephb3 UTSW 16 21,039,197 (GRCm39) missense probably damaging 1.00
R5090:Ephb3 UTSW 16 21,033,237 (GRCm39) missense probably damaging 1.00
R5396:Ephb3 UTSW 16 21,037,855 (GRCm39) missense possibly damaging 0.91
R5540:Ephb3 UTSW 16 21,039,610 (GRCm39) missense probably damaging 1.00
R5628:Ephb3 UTSW 16 21,036,869 (GRCm39) missense probably damaging 1.00
R5666:Ephb3 UTSW 16 21,041,241 (GRCm39) missense probably benign 0.08
R5838:Ephb3 UTSW 16 21,040,437 (GRCm39) missense probably damaging 1.00
R5866:Ephb3 UTSW 16 21,030,129 (GRCm39) intron probably benign
R6017:Ephb3 UTSW 16 21,040,781 (GRCm39) missense probably damaging 1.00
R6020:Ephb3 UTSW 16 21,040,763 (GRCm39) missense probably damaging 0.99
R6510:Ephb3 UTSW 16 21,036,861 (GRCm39) missense probably damaging 0.98
R6539:Ephb3 UTSW 16 21,040,218 (GRCm39) missense probably benign
R6591:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R6691:Ephb3 UTSW 16 21,033,223 (GRCm39) missense probably damaging 1.00
R7101:Ephb3 UTSW 16 21,037,268 (GRCm39) missense possibly damaging 0.86
R7111:Ephb3 UTSW 16 21,037,577 (GRCm39) nonsense probably null
R7236:Ephb3 UTSW 16 21,033,231 (GRCm39) missense probably damaging 1.00
R7307:Ephb3 UTSW 16 21,040,976 (GRCm39) missense probably benign 0.04
R7410:Ephb3 UTSW 16 21,040,158 (GRCm39) missense possibly damaging 0.75
R7413:Ephb3 UTSW 16 21,033,457 (GRCm39) missense probably damaging 1.00
R7452:Ephb3 UTSW 16 21,036,107 (GRCm39) splice site probably null
R7944:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R7945:Ephb3 UTSW 16 21,040,434 (GRCm39) missense probably damaging 1.00
R9092:Ephb3 UTSW 16 21,041,214 (GRCm39) missense probably benign 0.01
R9504:Ephb3 UTSW 16 21,036,830 (GRCm39) missense possibly damaging 0.48
R9706:Ephb3 UTSW 16 21,039,193 (GRCm39) missense probably damaging 1.00
Z1176:Ephb3 UTSW 16 21,036,786 (GRCm39) missense possibly damaging 0.53
Posted On 2015-04-16