Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Ephb4'

700003

Institutional Source

Beutler Lab

Gene Symbol

Ephb4

Ensembl Gene

ENSMUSG00000029710

Gene Name

Eph receptor B4

Synonyms

MDK2, Htk, b2b2412Clo, Myk1, Tyro11

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137348371-137372784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137352824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 136 (I136F)

Ref Sequence

ENSEMBL: ENSMUSP00000106684 (fasta)

Gene Model

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

AlphaFold

P54761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061244
AA Change: I136F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: I136F

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

possibly damaging
Transcript: ENSMUST00000111054
AA Change: I136F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: I136F

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

possibly damaging
Transcript: ENSMUST00000111055
AA Change: I136F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: I136F

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

possibly damaging
Transcript: ENSMUST00000144296
AA Change: I136F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: I136F

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

possibly damaging
Transcript: ENSMUST00000166239
AA Change: I136F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: I136F

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: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	Het

Other mutations in Ephb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGAGGTGTGCGACATGAAGC -3'
(R):5'- GAAAGCAGCTTCAAGTTGGACC -3'

Sequencing Primer
(F):5'- TGCGACATGAAGCGTCCAG -3'
(R):5'- AGCTTCAAGTTGGACCTCCCC -3'

Posted On

2022-02-07