Mutagenetix > Incidental Mutation

Incidental Mutation 'R9513:Ephb4'

718281

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 #

R9513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137348371-137372784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137361564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 531 (H531Q)

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: H522Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: H522Q

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: H522Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: H522Q

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: H531Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: H531Q

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: H522Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: H522Q

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: H522Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: H522Q

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Accsl	T	C	2: 93,699,498 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,530,472 (GRCm39)	K5867N	possibly damaging	Het
Adh1	T	A	3: 137,988,571 (GRCm39)	Y181*	probably null	Het
Agbl2	T	C	2: 90,631,458 (GRCm39)	V272A	possibly damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Amotl1	A	T	9: 14,526,063 (GRCm39)	S6T	probably benign	Het
Bicd1	T	A	6: 149,414,391 (GRCm39)	V368E	probably damaging	Het
Brinp2	G	A	1: 158,074,273 (GRCm39)	T616I	probably damaging	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Cacna1e	T	A	1: 154,318,033 (GRCm39)	I1450F	probably damaging	Het
Camk2a	A	G	18: 61,088,607 (GRCm39)		probably null	Het
Ccdc125	A	G	13: 100,826,875 (GRCm39)	E244G	probably benign	Het
Cdh23	C	T	10: 60,166,995 (GRCm39)	A1884T	probably damaging	Het
Clcn1	T	C	6: 42,282,462 (GRCm39)	I510T	probably damaging	Het
Copb1	A	T	7: 113,831,432 (GRCm39)	V572D	probably benign	Het
Ctf1	AGCAAC	A	7: 127,316,180 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,354,179 (GRCm39)	L3053Q	probably damaging	Het
Fgl2	T	A	5: 21,580,790 (GRCm39)	C377*	probably null	Het
Frmd4a	T	C	2: 4,608,711 (GRCm39)	F860L	probably damaging	Het
Gbp9	T	C	5: 105,229,091 (GRCm39)	N519D	probably benign	Het
Gm1110	A	G	9: 26,795,083 (GRCm39)	S468P	possibly damaging	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gnas	T	C	2: 174,185,089 (GRCm39)	Y916H	probably damaging	Het
Hectd1	T	C	12: 51,816,079 (GRCm39)	D1336G	possibly damaging	Het
Herc2	G	T	7: 55,762,848 (GRCm39)	G859V	probably damaging	Het
Hydin	G	A	8: 111,322,114 (GRCm39)	D4589N	probably damaging	Het
Itfg1	A	T	8: 86,490,875 (GRCm39)	N351K	possibly damaging	Het
Kcnd3	G	A	3: 105,572,863 (GRCm39)		probably null	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Lcn4	C	T	2: 26,560,613 (GRCm39)		probably null	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Lrrtm2	A	G	18: 35,346,687 (GRCm39)	I205T	probably damaging	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mfap1a	T	C	2: 121,330,084 (GRCm39)	K221E	probably benign	Het
Myo7a	A	G	7: 97,746,818 (GRCm39)		probably null	Het
Ncbp3	T	C	11: 72,938,727 (GRCm39)	M1T	probably null	Het
Nck1	A	T	9: 100,379,369 (GRCm39)	M294K	probably benign	Het
Nr2f2	A	T	7: 70,010,056 (GRCm39)	W8R	probably damaging	Het
Or12e10	T	A	2: 87,640,187 (GRCm39)	S8T	possibly damaging	Het
Or1e20-ps1	T	A	11: 73,324,818 (GRCm39)	Q78L	unknown	Het
Or4c12b	A	T	2: 89,647,553 (GRCm39)	R288S	probably damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Or8j3c	A	T	2: 86,253,707 (GRCm39)	F104L	probably damaging	Het
Pcdha1	A	G	18: 37,065,286 (GRCm39)	K650R	probably benign	Het
Pgm1	T	A	4: 99,841,242 (GRCm39)	I532N	probably damaging	Het
Pik3c2a	T	A	7: 115,939,321 (GRCm39)	K1672N	probably benign	Het
Pou3f1	G	A	4: 124,552,835 (GRCm39)	G446S	probably benign	Het
Ppm1j	T	C	3: 104,693,134 (GRCm39)	I497T	probably damaging	Het
Pprc1	C	T	19: 46,056,500 (GRCm39)	Q1202*	probably null	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Prdm15	T	C	16: 97,607,704 (GRCm39)	N713S	probably damaging	Het
Ptprb	A	G	10: 116,138,142 (GRCm39)	T62A	probably benign	Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Ranbp3l	A	T	15: 9,037,176 (GRCm39)	R149*	probably null	Het
Resf1	T	A	6: 149,229,793 (GRCm39)	Y946*	probably null	Het
Rfx4	T	A	10: 84,674,050 (GRCm39)	M1K	probably null	Het
Ripk4	G	T	16: 97,547,098 (GRCm39)	S388*	probably null	Het
Rnft1	T	G	11: 86,377,065 (GRCm39)	I43R	possibly damaging	Het
Setbp1	A	T	18: 78,899,781 (GRCm39)	F1295L	probably damaging	Het
Sez6	A	G	11: 77,865,409 (GRCm39)	D682G	probably damaging	Het
Slc1a1	T	C	19: 28,812,734 (GRCm39)		probably null	Het
Slc7a5	G	T	8: 122,613,616 (GRCm39)	T312K	probably benign	Het
Slco4c1	A	T	1: 96,799,643 (GRCm39)	N64K	probably benign	Het
Spata13	C	T	14: 60,929,849 (GRCm39)	T469I	probably benign	Het
Stxbp5	T	A	10: 9,687,754 (GRCm39)	N440I	probably benign	Het
Tas2r114	T	A	6: 131,666,746 (GRCm39)	Q94L	probably benign	Het
Tasor	T	A	14: 27,186,271 (GRCm39)	C823*	probably null	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Thap7	A	G	16: 17,348,152 (GRCm39)	Y60H	probably damaging	Het
Tjap1	G	T	17: 46,569,733 (GRCm39)	P409H	probably damaging	Het
Tmtc4	G	A	14: 123,209,204 (GRCm39)	A147V	probably benign	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trafd1	T	C	5: 121,516,837 (GRCm39)	N122S	possibly damaging	Het
Vmn1r151	T	A	7: 22,199,096 (GRCm39)	D3V	probably benign	Het
Wdr20rt	A	G	12: 65,272,825 (GRCm39)	Y96C	probably damaging	Het
Zfp507	A	G	7: 35,475,573 (GRCm39)	V880A	probably benign	Het
Zfp598	A	G	17: 24,896,568 (GRCm39)	D215G	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp738	A	T	13: 67,817,635 (GRCm39)	C785*	probably null	Het
Zfp985	C	T	4: 147,667,999 (GRCm39)	T289I	probably damaging	Het
Zkscan6	T	A	11: 65,712,795 (GRCm39)	Y243N	probably 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
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
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'- GGAATCTTACGGCCCATTCC -3'
(R):5'- TGCTCATCTTACTGGAGGAGG -3'

Sequencing Primer
(F):5'- GAATCTTACGGCCCATTCCTTTCTC -3'
(R):5'- CTTGTGGGTCAACATGCAGC -3'

Posted On

2022-07-18