Incidental Mutation 'R5662:Ephb4'
ID 444126
Institutional Source Beutler Lab
Gene Symbol Ephb4
Ensembl Gene ENSMUSG00000029710
Gene Name Eph receptor B4
Synonyms MDK2, Htk, b2b2412Clo, Myk1, Tyro11
MMRRC Submission 043305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5662 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137348371-137372784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137370457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 886 (I886F)
Ref Sequence ENSEMBL: ENSMUSP00000106683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061244] [ENSMUST00000111054] [ENSMUST00000111055] [ENSMUST00000144296] [ENSMUST00000166239]
AlphaFold P54761
Predicted Effect probably damaging
Transcript: ENSMUST00000061244
AA Change: I886F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: I886F

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 damaging
Transcript: ENSMUST00000111054
AA Change: I886F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: I886F

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 damaging
Transcript: ENSMUST00000111055
AA Change: I895F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: I895F

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 damaging
Transcript: ENSMUST00000144296
AA Change: I886F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: I886F

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 damaging
Transcript: ENSMUST00000166239
AA Change: I886F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: I886F

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,749,855 (GRCm39) V1542D possibly damaging Het
Acsm4 T G 7: 119,294,023 (GRCm39) N131K possibly damaging Het
Ankrd54 A G 15: 78,946,814 (GRCm39) S62P possibly damaging Het
Ccdc186 A G 19: 56,781,920 (GRCm39) I753T probably benign Het
Cers2 C T 3: 95,228,295 (GRCm39) R112C probably damaging Het
Col6a4 C G 9: 105,945,200 (GRCm39) R971S probably damaging Het
Ctsf T C 19: 4,906,606 (GRCm39) S178P probably damaging Het
Dennd4c C T 4: 86,713,525 (GRCm39) T492I probably benign Het
Dhx8 A G 11: 101,657,584 (GRCm39) K1212E possibly damaging Het
Dnah8 A G 17: 30,956,307 (GRCm39) T2096A probably damaging Het
Eprs1 T G 1: 185,126,622 (GRCm39) N519K possibly damaging Het
Fam3c T C 6: 22,355,061 (GRCm39) probably benign Het
Galnt17 G A 5: 131,114,844 (GRCm39) R219C probably damaging Het
Gm10645 A G 8: 83,892,486 (GRCm39) probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Hydin T G 8: 111,307,341 (GRCm39) S3907A probably benign Het
Ighv1-49 A T 12: 115,019,027 (GRCm39) V56E probably damaging Het
Igtp A G 11: 58,097,105 (GRCm39) D92G probably damaging Het
Itga1 C T 13: 115,122,707 (GRCm39) V750I probably benign Het
Katnip A G 7: 125,441,875 (GRCm39) R595G probably benign Het
Kif3c T A 12: 3,417,031 (GRCm39) Y351N probably damaging Het
Klhdc1 T A 12: 69,329,939 (GRCm39) I356N probably benign Het
Lrrc34 T C 3: 30,685,473 (GRCm39) Y292C probably benign Het
Ly75 G A 2: 60,182,725 (GRCm39) T526M probably damaging Het
Mroh4 A T 15: 74,497,277 (GRCm39) D181E possibly damaging Het
Nutm1 T C 2: 112,079,645 (GRCm39) N757D probably benign Het
Or1e25 T C 11: 73,494,005 (GRCm39) F200L probably benign Het
Or1m1 A G 9: 18,666,896 (GRCm39) F12L probably damaging Het
Or6c215 T C 10: 129,638,176 (GRCm39) T73A possibly damaging Het
Or9s18 T C 13: 65,300,067 (GRCm39) F10L possibly damaging Het
Paxbp1 G A 16: 90,834,285 (GRCm39) T167M probably benign Het
Pnpla7 A G 2: 24,942,396 (GRCm39) D1238G probably damaging Het
Pom121l2 T C 13: 22,166,358 (GRCm39) S210P probably benign Het
Ripor3 T G 2: 167,835,476 (GRCm39) N165T probably benign Het
Serpine3 T G 14: 62,908,291 (GRCm39) S106R probably benign Het
Slc25a11 G A 11: 70,536,245 (GRCm39) R158* probably null Het
Slc26a6 G A 9: 108,736,538 (GRCm39) V506M possibly damaging Het
Slc45a2 A G 15: 11,022,169 (GRCm39) K304E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Smarcb1 T C 10: 75,740,404 (GRCm39) N267S possibly damaging Het
Spink6 C A 18: 44,207,481 (GRCm39) Q24K possibly damaging Het
Srebf2 T C 15: 82,079,204 (GRCm39) S811P probably benign Het
Ssc4d A G 5: 135,989,748 (GRCm39) *587R probably null Het
Sult2a8 C T 7: 14,161,765 (GRCm39) R27H probably benign Het
Sun2 C T 15: 79,623,069 (GRCm39) A90T probably benign Het
Ubr7 T C 12: 102,734,526 (GRCm39) S267P probably benign Het
Wdr55 G A 18: 36,893,448 (GRCm39) V37M possibly damaging Het
Xdh C T 17: 74,248,110 (GRCm39) G45S probably damaging Het
Zfp638 T A 6: 83,920,111 (GRCm39) S570T probably damaging 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
R5475:Ephb4 UTSW 5 137,352,701 (GRCm39) missense probably benign 0.00
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'- CTGTAGGTGATCAATGCCATTG -3'
(R):5'- AATAGTGAGGCTGCCGTTGG -3'

Sequencing Primer
(F):5'- CATTGAACAGGACTACCGGCTG -3'
(R):5'- CTGCCGTTGGTCCAAGAGTG -3'
Posted On 2016-11-09