Incidental Mutation 'R5475:Ephb4'
ID 434012
Institutional Source Beutler Lab
Gene Symbol Ephb4
Ensembl Gene ENSMUSG00000029710
Gene Name Eph receptor B4
Synonyms MDK2, Htk, b2b2412Clo, Myk1, Tyro11
MMRRC Submission 043036-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5475 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137348371-137372784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137352701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 95 (M95V)
Ref Sequence ENSEMBL: ENSMUSP00000130275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061244] [ENSMUST00000111054] [ENSMUST00000111055] [ENSMUST00000144296] [ENSMUST00000166239]
AlphaFold P54761
Predicted Effect probably benign
Transcript: ENSMUST00000061244
AA Change: M95V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: M95V

DomainStartEndE-ValueType
EPH_lbd 17 197 6.3e-106 SMART
Pfam:GCC2_GCC3 258 301 2.6e-11 PFAM
FN3 324 413 1.75e-6 SMART
FN3 434 516 1.07e-10 SMART
Pfam:EphA2_TM 540 612 8.9e-26 PFAM
TyrKc 615 874 5.09e-130 SMART
SAM 904 971 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111054
AA Change: M95V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: M95V

DomainStartEndE-ValueType
EPH_lbd 17 197 6.3e-106 SMART
Pfam:GCC2_GCC3 258 301 1.4e-11 PFAM
FN3 324 413 1.75e-6 SMART
FN3 434 516 1.07e-10 SMART
Pfam:EphA2_TM 540 612 3.4e-26 PFAM
TyrKc 615 874 5.09e-130 SMART
Pfam:SAM_1 882 917 2.6e-7 PFAM
low complexity region 919 934 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111055
AA Change: M95V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: M95V

DomainStartEndE-ValueType
EPH_lbd 17 197 6.3e-106 SMART
Pfam:GCC2_GCC3 258 301 4.2e-10 PFAM
FN3 324 413 1.75e-6 SMART
FN3 443 525 1.07e-10 SMART
Pfam:EphA2_TM 550 621 5e-24 PFAM
TyrKc 624 883 5.09e-130 SMART
SAM 913 980 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144296
AA Change: M95V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: M95V

DomainStartEndE-ValueType
EPH_lbd 17 197 6.3e-106 SMART
Pfam:GCC2_GCC3 258 301 2.6e-11 PFAM
FN3 324 413 1.75e-6 SMART
FN3 434 516 1.07e-10 SMART
Pfam:EphA2_TM 540 612 8.9e-26 PFAM
TyrKc 615 874 5.09e-130 SMART
SAM 904 971 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166239
AA Change: M95V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: M95V

DomainStartEndE-ValueType
EPH_lbd 17 197 6.3e-106 SMART
Pfam:GCC2_GCC3 258 301 2.6e-11 PFAM
FN3 324 413 1.75e-6 SMART
FN3 434 516 1.07e-10 SMART
Pfam:EphA2_TM 540 612 8.9e-26 PFAM
TyrKc 615 874 5.09e-130 SMART
SAM 904 971 2.44e-21 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
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 binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
AA467197 A G 2: 122,482,646 (GRCm39) K70R probably damaging Het
Agr3 A G 12: 35,997,539 (GRCm39) N83S probably benign Het
Alpk2 T C 18: 65,440,083 (GRCm39) T904A probably benign Het
Ank A T 15: 27,557,285 (GRCm39) K156N probably damaging Het
Arsb T G 13: 93,998,773 (GRCm39) D360E probably benign Het
Atg14 C T 14: 47,805,793 (GRCm39) R24Q possibly damaging Het
Cacna1e A T 1: 154,601,455 (GRCm39) F71I possibly damaging Het
Cdc42bpg T C 19: 6,361,101 (GRCm39) I242T probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Col6a6 T C 9: 105,651,537 (GRCm39) H1158R probably null Het
Cse1l T C 2: 166,783,174 (GRCm39) S684P probably damaging Het
Cyp2c29 A T 19: 39,318,731 (GRCm39) M404L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dph7 A T 2: 24,858,969 (GRCm39) probably null Het
Dsg1c A T 18: 20,415,088 (GRCm39) N662Y probably damaging Het
Efcab9 T G 11: 32,472,862 (GRCm39) D195A probably damaging Het
Fam171a1 A T 2: 3,226,334 (GRCm39) Y489F possibly damaging Het
Fars2 T C 13: 36,388,553 (GRCm39) I14T probably benign Het
Fbxo34 T C 14: 47,766,802 (GRCm39) V54A probably benign Het
Fbxw17 T C 13: 50,579,684 (GRCm39) I167T probably benign Het
Fzd9 A T 5: 135,279,123 (GRCm39) probably null Het
Gm26996 T A 6: 130,556,918 (GRCm39) noncoding transcript Het
Gm4744 A G 6: 40,927,388 (GRCm39) probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Has1 C A 17: 18,068,583 (GRCm39) R257L possibly damaging Het
Hjv T C 3: 96,434,599 (GRCm39) S113P probably benign Het
Hsd17b8 C T 17: 34,246,287 (GRCm39) probably benign Het
Kat2b T G 17: 53,970,609 (GRCm39) V665G probably damaging Het
Klhdc4 T A 8: 122,526,311 (GRCm39) H276L possibly damaging Het
Klhl6 A T 16: 19,766,877 (GRCm39) C506S probably damaging Het
Ldb2 T C 5: 44,699,174 (GRCm39) Y88C probably damaging Het
Lrit1 A G 14: 36,776,958 (GRCm39) E26G probably benign Het
Mcoln2 A G 3: 145,889,541 (GRCm39) Y414C probably damaging Het
Mfsd5 A G 15: 102,188,928 (GRCm39) D100G probably damaging Het
Micall2 T A 5: 139,702,224 (GRCm39) S340C probably damaging Het
Npsr1 T C 9: 24,211,715 (GRCm39) I81T probably damaging Het
Or2bd2 G T 7: 6,443,169 (GRCm39) R90L probably benign Het
Or2t49 A G 11: 58,392,431 (GRCm39) V317A probably benign Het
Or6x1 T A 9: 40,099,005 (GRCm39) L198H possibly damaging Het
Or8b56 T A 9: 38,739,762 (GRCm39) F258L possibly damaging Het
Pax3 T C 1: 78,080,055 (GRCm39) T444A probably benign Het
Pea15a A G 1: 172,026,809 (GRCm39) probably null Het
Phc1 T A 6: 122,311,051 (GRCm39) Q95L possibly damaging Het
Plch2 T C 4: 155,084,594 (GRCm39) Y361C probably damaging Het
Pphln1-ps1 A T 16: 13,494,977 (GRCm39) R25S possibly damaging Het
Rad54l2 C T 9: 106,583,057 (GRCm39) G787D probably damaging Het
Rbm20 G T 19: 53,823,136 (GRCm39) E578* probably null Het
Sipa1l2 A T 8: 126,218,334 (GRCm39) D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thumpd1 A G 7: 119,319,943 (GRCm39) S8P probably benign Het
Tnxb T C 17: 34,908,567 (GRCm39) Y1407H probably damaging Het
Trav2 T A 14: 52,805,290 (GRCm39) V37E probably damaging Het
Trav3-1 G T 14: 52,818,494 (GRCm39) W56L probably damaging Het
Usp31 A T 7: 121,250,749 (GRCm39) L808Q probably damaging Het
Vmn1r52 C T 6: 90,155,894 (GRCm39) A66V probably benign Het
Vmn2r105 T A 17: 20,455,044 (GRCm39) I31L probably benign Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zbtb2 G T 10: 4,319,275 (GRCm39) F250L probably benign Het
Other mutations in Ephb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Ephb4 APN 5 137,363,877 (GRCm39) splice site probably benign
IGL00948:Ephb4 APN 5 137,364,921 (GRCm39) missense probably damaging 1.00
IGL01653:Ephb4 APN 5 137,364,003 (GRCm39) splice site probably benign
IGL01885:Ephb4 APN 5 137,356,059 (GRCm39) missense probably damaging 1.00
IGL01906:Ephb4 APN 5 137,359,456 (GRCm39) missense probably damaging 1.00
IGL02089:Ephb4 APN 5 137,369,024 (GRCm39) missense probably damaging 0.98
IGL02216:Ephb4 APN 5 137,370,332 (GRCm39) missense possibly damaging 0.92
IGL02233:Ephb4 APN 5 137,352,763 (GRCm39) nonsense probably null
IGL03080:Ephb4 APN 5 137,352,345 (GRCm39) splice site probably benign
IGL03111:Ephb4 APN 5 137,370,767 (GRCm39) missense probably benign 0.07
R0599:Ephb4 UTSW 5 137,368,117 (GRCm39) missense probably damaging 1.00
R0744:Ephb4 UTSW 5 137,363,929 (GRCm39) missense probably damaging 1.00
R1331:Ephb4 UTSW 5 137,364,796 (GRCm39) splice site probably benign
R1441:Ephb4 UTSW 5 137,359,509 (GRCm39) missense probably damaging 1.00
R1732:Ephb4 UTSW 5 137,370,440 (GRCm39) missense possibly damaging 0.93
R1745:Ephb4 UTSW 5 137,358,696 (GRCm39) missense probably benign
R1831:Ephb4 UTSW 5 137,352,677 (GRCm39) missense probably damaging 1.00
R1865:Ephb4 UTSW 5 137,361,572 (GRCm39) missense possibly damaging 0.53
R2165:Ephb4 UTSW 5 137,352,688 (GRCm39) missense probably benign 0.08
R2206:Ephb4 UTSW 5 137,355,981 (GRCm39) missense probably damaging 1.00
R2473:Ephb4 UTSW 5 137,363,962 (GRCm39) missense probably benign 0.15
R4779:Ephb4 UTSW 5 137,363,964 (GRCm39) missense probably benign 0.04
R4801:Ephb4 UTSW 5 137,363,768 (GRCm39) missense probably damaging 1.00
R4802:Ephb4 UTSW 5 137,363,768 (GRCm39) missense probably damaging 1.00
R5307:Ephb4 UTSW 5 137,361,574 (GRCm39) missense probably damaging 1.00
R5452:Ephb4 UTSW 5 137,359,404 (GRCm39) missense probably damaging 1.00
R5458:Ephb4 UTSW 5 137,368,114 (GRCm39) missense probably damaging 1.00
R5662:Ephb4 UTSW 5 137,370,457 (GRCm39) missense probably damaging 0.98
R5879:Ephb4 UTSW 5 137,358,678 (GRCm39) missense probably benign 0.00
R6336:Ephb4 UTSW 5 137,370,347 (GRCm39) missense probably damaging 1.00
R6443:Ephb4 UTSW 5 137,358,711 (GRCm39) missense probably damaging 1.00
R6632:Ephb4 UTSW 5 137,364,849 (GRCm39) missense probably damaging 0.99
R6973:Ephb4 UTSW 5 137,368,066 (GRCm39) missense probably damaging 1.00
R7008:Ephb4 UTSW 5 137,359,536 (GRCm39) missense probably benign 0.00
R7145:Ephb4 UTSW 5 137,370,308 (GRCm39) missense probably damaging 1.00
R7421:Ephb4 UTSW 5 137,352,687 (GRCm39) missense possibly damaging 0.88
R7593:Ephb4 UTSW 5 137,359,560 (GRCm39) missense probably benign
R7635:Ephb4 UTSW 5 137,370,365 (GRCm39) missense probably damaging 1.00
R7751:Ephb4 UTSW 5 137,363,937 (GRCm39) missense probably damaging 1.00
R7825:Ephb4 UTSW 5 137,370,699 (GRCm39) missense probably damaging 1.00
R8539:Ephb4 UTSW 5 137,356,117 (GRCm39) missense probably damaging 1.00
R8904:Ephb4 UTSW 5 137,369,067 (GRCm39) missense probably damaging 1.00
R9228:Ephb4 UTSW 5 137,352,824 (GRCm39) missense possibly damaging 0.79
R9327:Ephb4 UTSW 5 137,361,529 (GRCm39) missense probably damaging 0.99
R9513:Ephb4 UTSW 5 137,361,564 (GRCm39) missense possibly damaging 0.76
R9659:Ephb4 UTSW 5 137,363,743 (GRCm39) missense probably damaging 1.00
R9788:Ephb4 UTSW 5 137,363,743 (GRCm39) missense probably damaging 1.00
X0026:Ephb4 UTSW 5 137,371,820 (GRCm39) missense probably damaging 1.00
Z1177:Ephb4 UTSW 5 137,359,621 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTGCACAGAAACACTCCGAG -3'
(R):5'- ACTGCTTGTAGTGGCATCG -3'

Sequencing Primer
(F):5'- TAGCTAGACGTCCTGACTGACAG -3'
(R):5'- GATCCCCCAGACTGTTGGTAC -3'
Posted On 2016-10-06