Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Ephb4'

597221

Institutional Source

Beutler Lab

Gene Symbol

Ephb4

Ensembl Gene

ENSMUSG00000029710

Gene Name

Eph receptor B4

Synonyms

MDK2, Htk, b2b2412Clo, Myk1, Tyro11

MMRRC Submission

045807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137348371-137372784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137363937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 612 (V612A)

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: V603A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: V603A

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: V603A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: V603A

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: V612A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: V612A

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: V603A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: V603A

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: V603A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: V603A

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: 99.0%

Validation Efficiency

98% (82/84)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,965,044 (GRCm39)	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,159,779 (GRCm39)	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,197,946 (GRCm39)	G69S	probably damaging	Het
Agrn	C	T	4: 156,260,886 (GRCm39)	S710N	probably damaging	Het
Aox3	A	G	1: 58,218,494 (GRCm39)	M1103V	probably benign	Het
Asb18	G	A	1: 89,896,206 (GRCm39)	A278V	probably benign	Het
B3gat2	A	G	1: 23,801,945 (GRCm39)	E77G	probably benign	Het
Camta1	T	C	4: 151,232,863 (GRCm39)		probably null	Het
Cbll1	A	T	12: 31,537,579 (GRCm39)	I392N	probably damaging	Het
Ccdc113	A	G	8: 96,264,829 (GRCm39)	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,599,092 (GRCm39)	F148L	probably benign	Het
Chad	T	A	11: 94,455,999 (GRCm39)	C26S	probably damaging	Het
Cog4	T	C	8: 111,607,600 (GRCm39)	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,225,839 (GRCm39)	S303R	probably damaging	Het
Cstpp1	A	T	2: 91,214,118 (GRCm39)	L79H	probably damaging	Het
Cubn	C	T	2: 13,365,176 (GRCm39)	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,747,179 (GRCm39)	N1454K	probably benign	Het
Dennd5b	T	C	6: 148,918,604 (GRCm39)	I853V	probably benign	Het
Dnaaf11	T	C	15: 66,321,412 (GRCm39)	E243G	probably benign	Het
Dop1a	A	T	9: 86,389,783 (GRCm39)	D561V	probably benign	Het
Dpysl4	A	G	7: 138,669,456 (GRCm39)	I45V	probably benign	Het
Ect2l	A	C	10: 18,045,153 (GRCm39)	S301A	possibly damaging	Het
Elf2	A	G	3: 51,165,035 (GRCm39)	V323A	probably damaging	Het
Epcam	C	T	17: 87,947,904 (GRCm39)	R125*	probably null	Het
Erich3	C	T	3: 154,469,426 (GRCm39)	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,302,367 (GRCm39)	L408F	probably damaging	Het
Gask1a	G	A	9: 121,793,887 (GRCm39)	V14I	probably benign	Het
Gm13102	T	C	4: 143,835,787 (GRCm39)	I485T	probably benign	Het
Gm16494	A	T	17: 47,327,800 (GRCm39)	L28*	probably null	Het
Grin2c	A	G	11: 115,144,696 (GRCm39)	V610A	probably damaging	Het
Hacd2	T	A	16: 34,922,434 (GRCm39)	Y208N	probably damaging	Het
Hlf	A	T	11: 90,278,821 (GRCm39)	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,499,134 (GRCm39)	A257V	probably damaging	Het
Il12a	A	T	3: 68,605,235 (GRCm39)	N167I	probably damaging	Het
Il1r2	G	A	1: 40,162,371 (GRCm39)	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,930,489 (GRCm39)	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,314,890 (GRCm39)	F383L	probably benign	Het
Kcnh8	A	G	17: 53,268,871 (GRCm39)	T863A	probably damaging	Het
Klhl36	C	A	8: 120,596,397 (GRCm39)	Q33K	probably benign	Het
Lrig2	A	T	3: 104,401,985 (GRCm39)	Y113*	probably null	Het
Lrrc36	T	A	8: 106,178,667 (GRCm39)	S287R	possibly damaging	Het
Mr1	A	T	1: 155,005,054 (GRCm39)	Y329N	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nectin4	G	A	1: 171,211,326 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,940,097 (GRCm39)		probably null	Het
Or1e21	A	T	11: 73,344,372 (GRCm39)	I222N	possibly damaging	Het
Or9g3	A	G	2: 85,583,836 (GRCm39)	T44A	probably benign	Het
Pcdh8	A	T	14: 80,008,143 (GRCm39)	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,333,208 (GRCm39)	V271A	probably damaging	Het
Pex3	T	A	10: 13,403,550 (GRCm39)	I324L	possibly damaging	Het
Pira12	T	A	7: 3,898,603 (GRCm39)	I282F	probably damaging	Het
Pitpnm1	T	A	19: 4,153,470 (GRCm39)	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,271,149 (GRCm39)	T3135S	probably damaging	Het
Pramel32	T	C	4: 88,547,356 (GRCm39)	D192G	probably benign	Het
Prdm16	T	C	4: 154,412,756 (GRCm39)	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,370,439 (GRCm39)	I13F	possibly damaging	Het
Ptgs2	A	T	1: 149,980,258 (GRCm39)	I399F	probably benign	Het
Rasa3	A	T	8: 13,618,708 (GRCm39)	S830T	probably benign	Het
Rasgef1c	A	T	11: 49,861,120 (GRCm39)	R362W	probably damaging	Het
Resf1	A	G	6: 149,226,936 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf217	C	A	10: 31,393,415 (GRCm39)	G389W	probably damaging	Het
Sec16b	A	T	1: 157,385,630 (GRCm39)	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,877,401 (GRCm39)	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,227,591 (GRCm39)	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,290,761 (GRCm39)	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,780,413 (GRCm39)	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,568,410 (GRCm39)	D351G	probably damaging	Het
Stat4	G	A	1: 52,121,711 (GRCm39)	V357M	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,958,982 (GRCm39)	C139S	probably benign	Het
Tmed9	G	A	13: 55,741,054 (GRCm39)	R23Q	not run	Het
Tmem150a	A	C	6: 72,336,028 (GRCm39)	H205P	probably damaging	Het
Tns2	C	A	15: 102,018,163 (GRCm39)	L350I	probably benign	Het
Tpr	A	G	1: 150,295,646 (GRCm39)	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,422,479 (GRCm39)		probably benign	Het
Trem2	G	T	17: 48,653,567 (GRCm39)		probably benign	Het
Ttc14	G	A	3: 33,863,590 (GRCm39)	G666D	unknown	Het
Ulk1	T	C	5: 110,957,078 (GRCm39)	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,412,397 (GRCm39)	V145A	probably benign	Het
Vmn1r79	C	T	7: 11,910,762 (GRCm39)	Q215*	probably null	Het
Wnk2	G	A	13: 49,231,493 (GRCm39)	T16I	unknown	Het
Yme1l1	T	C	2: 23,077,856 (GRCm39)		probably null	Het
Zbtb16	T	A	9: 48,654,769 (GRCm39)	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,595 (GRCm39)	Q123R	possibly damaging	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
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'- TCATCGGGCACGGTATGT -3'
(R):5'- AGCAGCCATATATCAACATACGGT -3'

Sequencing Primer
(F):5'- TGTGGGTCACAGACAAGGG -3'
(R):5'- CCTGGAACTTGCTATGTAGACCAG -3'

Posted On

2019-11-26