Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Ephb4'

727442

Institutional Source

Beutler Lab

Gene Symbol

Ephb4

Ensembl Gene

ENSMUSG00000029710

Gene Name

Eph receptor B4

Synonyms

MDK2, Htk, Myk1, Tyro11

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137350109-137378669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 137365481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 583 (Y583D)

Ref Sequence

ENSEMBL: ENSMUSP00000106684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061244] [ENSMUST00000111054] [ENSMUST00000111055] [ENSMUST00000144296] [ENSMUST00000166239]

AlphaFold

P54761

Predicted Effect

probably damaging
Transcript: ENSMUST00000061244
AA Change: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: Y574D

Domain	Start	End	E-Value	Type
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: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: Y574D

Domain	Start	End	E-Value	Type
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: Y583D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: Y583D

Domain	Start	End	E-Value	Type
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: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: Y574D

Domain	Start	End	E-Value	Type
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: Y574D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: Y574D

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,469,981	T387I	possibly damaging	Het
A330070K13Rik	T	C	5: 130,379,035	I112V	unknown	Het
Adcy7	A	G	8: 88,319,105	T572A	probably benign	Het
AF067061	T	A	13: 120,264,218	D139E	probably damaging	Het
Atad5	G	T	11: 80,089,716		probably benign	Het
C2cd2	A	G	16: 97,922,273	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,173,128	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,721,543	I545V	probably damaging	Het
Cep295	C	A	9: 15,322,550	A2317S	probably benign	Het
Cerkl	T	C	2: 79,392,978	D133G	possibly damaging	Het
Cited4	T	G	4: 120,667,346	C182G	probably damaging	Het
Col6a5	T	A	9: 105,933,835	K828N	unknown	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,165,599	C369Y	possibly damaging	Het
Ep300	A	G	15: 81,621,072	Y631C	unknown	Het
Fbn2	C	G	18: 58,209,582	R75P	probably damaging	Het
Gabra2	T	C	5: 71,034,797	D63G	probably benign	Het
Gfra1	A	G	19: 58,453,220	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,089,561		probably benign	Het
Gm3604	A	T	13: 62,371,910	H10Q	possibly damaging	Het
Gm597	G	T	1: 28,777,455	H499N	probably benign	Het
Helz2	T	C	2: 181,240,232	D256G	probably benign	Het
Herc1	A	C	9: 66,399,903	I1002L	probably benign	Het
Hpgd	C	G	8: 56,319,040	C182W	probably damaging	Het
Htr5b	A	G	1: 121,527,699	L164P	possibly damaging	Het
Kmo	T	C	1: 175,658,519	F403L	probably damaging	Het
Ly75	C	A	2: 60,338,321	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mipep	A	G	14: 60,846,444	T595A	probably damaging	Het
Muc6	T	C	7: 141,645,833	D968G	probably damaging	Het
Myo18b	T	C	5: 112,874,516	T337A	unknown	Het
Nlrp1b	T	A	11: 71,182,306	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,478,776		probably null	Het
Nxph1	A	G	6: 9,247,418	T130A	probably damaging	Het
Olfr122	T	G	17: 37,771,989	F112C	probably damaging	Het
Olfr365	T	A	2: 37,201,885	C215S	possibly damaging	Het
Olfr481	T	C	7: 108,081,538	V248A	probably damaging	Het
Olfr734	A	G	14: 50,320,724	F37S	probably benign	Het
Olfr935	A	G	9: 38,995,000	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,477,881	Y1062H	probably benign	Het
Plch1	T	C	3: 63,773,715	I164V	probably benign	Het
Plekhh2	T	A	17: 84,547,464	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,734,828	Y1832C	unknown	Het
Prpf4	G	A	4: 62,416,059		probably null	Het
Psg16	T	C	7: 17,090,599	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,854,977	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,248,449	H697Q	probably benign	Het
Reg3a	T	G	6: 78,383,591	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,786,433	P412S	probably benign	Het
Tlk2	T	C	11: 105,240,437	I203T	probably benign	Het
Tmem120b	T	G	5: 123,115,725	H279Q	probably damaging	Het
Trip4	T	C	9: 65,833,420	E535G	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,010	L2298I		Het
Utp20	A	G	10: 88,817,309	L303P	probably damaging	Het
Vcan	A	G	13: 89,691,741	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,226,569	S269C	probably damaging	Het
Zfand4	T	G	6: 116,305,627	Y54D	probably damaging	Het
Zfp82	C	T	7: 30,056,538	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,396,814	E141G	probably benign	Het

Other mutations in Ephb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Ephb4	APN	5	137365615	splice site	probably benign
IGL00948:Ephb4	APN	5	137366659	missense	probably damaging	1.00
IGL01653:Ephb4	APN	5	137365741	splice site	probably benign
IGL01885:Ephb4	APN	5	137357797	missense	probably damaging	1.00
IGL01906:Ephb4	APN	5	137361194	missense	probably damaging	1.00
IGL02089:Ephb4	APN	5	137370762	missense	probably damaging	0.98
IGL02216:Ephb4	APN	5	137372070	missense	possibly damaging	0.92
IGL02233:Ephb4	APN	5	137354501	nonsense	probably null
IGL03080:Ephb4	APN	5	137354083	splice site	probably benign
IGL03111:Ephb4	APN	5	137372505	missense	probably benign	0.07
R0599:Ephb4	UTSW	5	137369855	missense	probably damaging	1.00
R0744:Ephb4	UTSW	5	137365667	missense	probably damaging	1.00
R1331:Ephb4	UTSW	5	137366534	splice site	probably benign
R1441:Ephb4	UTSW	5	137361247	missense	probably damaging	1.00
R1732:Ephb4	UTSW	5	137372178	missense	possibly damaging	0.93
R1745:Ephb4	UTSW	5	137360434	missense	probably benign
R1831:Ephb4	UTSW	5	137354415	missense	probably damaging	1.00
R1865:Ephb4	UTSW	5	137363310	missense	possibly damaging	0.53
R2165:Ephb4	UTSW	5	137354426	missense	probably benign	0.08
R2206:Ephb4	UTSW	5	137357719	missense	probably damaging	1.00
R2473:Ephb4	UTSW	5	137365700	missense	probably benign	0.15
R4779:Ephb4	UTSW	5	137365702	missense	probably benign	0.04
R4801:Ephb4	UTSW	5	137365506	missense	probably damaging	1.00
R4802:Ephb4	UTSW	5	137365506	missense	probably damaging	1.00
R5307:Ephb4	UTSW	5	137363312	missense	probably damaging	1.00
R5452:Ephb4	UTSW	5	137361142	missense	probably damaging	1.00
R5458:Ephb4	UTSW	5	137369852	missense	probably damaging	1.00
R5475:Ephb4	UTSW	5	137354439	missense	probably benign	0.00
R5662:Ephb4	UTSW	5	137372195	missense	probably damaging	0.98
R5879:Ephb4	UTSW	5	137360416	missense	probably benign	0.00
R6336:Ephb4	UTSW	5	137372085	missense	probably damaging	1.00
R6443:Ephb4	UTSW	5	137360449	missense	probably damaging	1.00
R6632:Ephb4	UTSW	5	137366587	missense	probably damaging	0.99
R6973:Ephb4	UTSW	5	137369804	missense	probably damaging	1.00
R7008:Ephb4	UTSW	5	137361274	missense	probably benign	0.00
R7145:Ephb4	UTSW	5	137372046	missense	probably damaging	1.00
R7421:Ephb4	UTSW	5	137354425	missense	possibly damaging	0.88
R7593:Ephb4	UTSW	5	137361298	missense	probably benign
R7635:Ephb4	UTSW	5	137372103	missense	probably damaging	1.00
R7751:Ephb4	UTSW	5	137365675	missense	probably damaging	1.00
R7825:Ephb4	UTSW	5	137372437	missense	probably damaging	1.00
R8539:Ephb4	UTSW	5	137357855	missense	probably damaging	1.00
R8904:Ephb4	UTSW	5	137370805	missense	probably damaging	1.00
R9228:Ephb4	UTSW	5	137354562	missense	possibly damaging	0.79
R9327:Ephb4	UTSW	5	137363267	missense	probably damaging	0.99
R9513:Ephb4	UTSW	5	137363302	missense	possibly damaging	0.76
R9788:Ephb4	UTSW	5	137365481	missense	probably damaging	1.00
X0026:Ephb4	UTSW	5	137373558	missense	probably damaging	1.00
Z1177:Ephb4	UTSW	5	137361359	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAAAGACTGGCCACCTGCTC -3'
(R):5'- TGCCTCATTAGGGTCTTCGTAAG -3'

Sequencing Primer
(F):5'- TGGTATCAACCTGCCGAATG -3'
(R):5'- TAGGGTCTTCGTAAGTAAAAGGATC -3'

Posted On

2022-10-06