Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Ephb4'

70841

Institutional Source

Beutler Lab

Gene Symbol

Ephb4

Ensembl Gene

ENSMUSG00000029710

Gene Name

Eph receptor B4

Synonyms

MDK2, Htk, b2b2412Clo, Myk1, Tyro11

MMRRC Submission

038925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137348371-137372784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137363929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 600 (N600K)

Ref Sequence

ENSEMBL: ENSMUSP00000130275 (fasta)

Gene Model

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

AlphaFold

P54761

Predicted Effect

probably damaging
Transcript: ENSMUST00000061244
AA Change: N600K

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

SMART Domains

Protein: ENSMUSP00000051622
Gene: ENSMUSG00000029710
AA Change: N600K

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: N600K

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

SMART Domains

Protein: ENSMUSP00000106683
Gene: ENSMUSG00000029710
AA Change: N600K

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: N609K

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

SMART Domains

Protein: ENSMUSP00000106684
Gene: ENSMUSG00000029710
AA Change: N609K

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: N600K

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

SMART Domains

Protein: ENSMUSP00000115731
Gene: ENSMUSG00000029710
AA Change: N600K

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: N600K

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

SMART Domains

Protein: ENSMUSP00000130275
Gene: ENSMUSG00000029710
AA Change: N600K

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

0.4371

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hic1	T	A	11: 75,056,627 (GRCm39)	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,439,298 (GRCm39)		probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	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
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
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'- CACGGTATGTGGGTCACAGACAAG -3'
(R):5'- GCATGTACGCACATTGAACATGTGAA -3'

Sequencing Primer
(F):5'- GGGGAAGAAAGCAGCTTTG -3'
(R):5'- ccacccctcccccaatc -3'

Posted On

2013-09-30