Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Ephb4'

706568

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 #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137350109-137378669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137363267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 520 (S520P)

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: S511P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: S511P

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: S511P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: S511P

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: S520P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: S520P

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: S511P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: S511P

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: S511P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: S511P

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

Meta Mutation Damage Score

0.5695

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210011C24Rik	G	T	8: 84,010,451	Q105K	unknown	Het
3110043O21Rik	A	G	4: 35,205,883	I247T		Het
A1cf	T	A	19: 31,918,099	M194K	probably benign	Het
Abcg1	T	C	17: 31,114,148	S622P	probably benign	Het
Ahnak2	A	T	12: 112,784,826	V467E		Het
Amdhd2	T	C	17: 24,158,447	E164G	probably benign	Het
Ank3	G	A	10: 69,976,256		probably null	Het
Bank1	A	T	3: 136,093,547	N545K	probably benign	Het
BC067074	C	A	13: 113,317,176	Q58K		Het
Cep63	T	C	9: 102,590,524	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653	D65G	unknown	Het
Cyp2c50	A	G	19: 40,090,566	N118D	probably benign	Het
Dock10	C	T	1: 80,532,467	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,948,220	E44G	probably benign	Het
Eppk1	T	C	15: 76,109,555	E1042G	probably benign	Het
Fmod	A	T	1: 134,040,851	N210Y	probably damaging	Het
Fpr3	A	G	17: 17,971,451	D328G	probably damaging	Het
Garem2	T	G	5: 30,116,991	C783G	probably benign	Het
Gm10542	A	G	18: 44,204,622	N56D	probably damaging	Het
Gm20939	T	A	17: 94,876,996	N357K	probably benign	Het
Hr	A	G	14: 70,567,788	H990R	possibly damaging	Het
Il21r	A	G	7: 125,626,991	N53S	unknown	Het
Insrr	C	T	3: 87,814,297	T1170I	probably damaging	Het
Itga11	A	G	9: 62,730,752	M103V	probably damaging	Het
Izumo3	G	T	4: 92,146,813	Q56K	probably damaging	Het
Kcnh8	T	C	17: 52,839,056	V324A	probably damaging	Het
Kcnj2	T	A	11: 111,072,893	N370K	probably benign	Het
Klf16	G	T	10: 80,576,854	S116*	probably null	Het
Mettl16	T	C	11: 74,805,263	V310A	probably benign	Het
Mettl7b	A	G	10: 128,958,738	M239T	probably benign	Het
Mmrn2	G	A	14: 34,375,516		probably benign	Het
Mtcl1	A	G	17: 66,338,135	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,811,692	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,439,705		probably null	Het
Nckipsd	T	C	9: 108,814,500	I466T	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Npffr2	A	G	5: 89,582,802	H197R	probably benign	Het
Nrap	T	A	19: 56,351,668	M842L	probably benign	Het
Nxpe4	G	A	9: 48,398,684	A416T	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr473	T	A	7: 107,933,812	C97*	probably null	Het
Olfr574	T	C	7: 102,948,480	V5A	probably benign	Het
Olfr659	A	G	7: 104,671,535	I278V	probably damaging	Het
Ppp1r15a	C	T	7: 45,524,611	A258T	possibly damaging	Het
Prss36	A	T	7: 127,933,398	Y760*	probably null	Het
Psg26	T	A	7: 18,482,555	T120S	probably damaging	Het
Ptk7	A	T	17: 46,568,051	L908Q	probably benign	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Slc25a44	A	T	3: 88,420,718	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,485,617	T894A	probably damaging	Het
Tle4	A	G	19: 14,596,785	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,295,773	V181M	possibly damaging	Het
Trpm3	T	C	19: 22,918,640	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,141,991	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,471,533	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,848,975	T143A	probably damaging	Het
Vps26b	T	C	9: 27,019,454	N82D	probably benign	Het
Zfp318	T	G	17: 46,410,966	F1298L	probably damaging	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
R9513:Ephb4	UTSW	5	137363302	missense	possibly damaging	0.76
R9659:Ephb4	UTSW	5	137365481	missense	probably damaging	1.00
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'- GAGTTCCAGCATCCCAAAGAG -3'
(R):5'- GGCCAGGGCTTATCATTGAAG -3'

Sequencing Primer
(F):5'- GCTGCAAGGATAAATGATGCTATAC -3'
(R):5'- TTATCATTGAAGGATAAGAACAAGGC -3'

Posted On

2022-04-18