Mutagenetix > Incidental Mutation

Incidental Mutation 'R1777:Ephb3'

197165

Institutional Source

Beutler Lab

Gene Symbol

Ephb3

Ensembl Gene

ENSMUSG00000005958

Gene Name

Eph receptor B3

Synonyms

Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2

MMRRC Submission

039808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R1777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21023530-21042054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21035985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 291 (G291E)

Ref Sequence

ENSEMBL: ENSMUSP00000006112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063] [ENSMUST00000231316] [ENSMUST00000232407]

AlphaFold

P54754

Predicted Effect

probably damaging
Transcript: ENSMUST00000006112
AA Change: G291E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: G291E

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
EPH_lbd	31	204	6.47e-126	SMART
Pfam:GCC2_GCC3	269	312	5.8e-9	PFAM
FN3	332	430	8.43e-9	SMART
FN3	448	527	2.72e-12	SMART
Pfam:EphA2_TM	555	625	1e-24	PFAM
TyrKc	628	887	1.35e-134	SMART
SAM	917	984	3.88e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160053

Predicted Effect

unknown
Transcript: ENSMUST00000161063
AA Change: G37E

Predicted Effect

probably benign
Transcript: ENSMUST00000231316

Predicted Effect

probably benign
Transcript: ENSMUST00000232407

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,148,813 (GRCm39)	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,553,576 (GRCm39)	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,440,289 (GRCm39)	S364P	probably benign	Het
Atp6v1a	G	T	16: 43,935,068 (GRCm39)	Y40*	probably null	Het
Cdh1	T	A	8: 107,383,467 (GRCm39)	H235Q	probably damaging	Het
Cntln	A	G	4: 85,048,916 (GRCm39)	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,297,803 (GRCm39)	S781T	probably benign	Het
Cpne4	A	G	9: 104,749,887 (GRCm39)	T64A	probably damaging	Het
Ctsg	T	C	14: 56,338,058 (GRCm39)	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 119,880,659 (GRCm39)	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,506,995 (GRCm39)	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,693 (GRCm39)	A443S	probably benign	Het
Drd5	T	C	5: 38,477,504 (GRCm39)	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,595,054 (GRCm39)	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,261,320 (GRCm39)	I542T	probably damaging	Het
Eva1a	T	A	6: 82,069,137 (GRCm39)	Y155N	probably damaging	Het
Exog	C	T	9: 119,278,884 (GRCm39)	P189L	probably damaging	Het
Fam13b	A	G	18: 34,590,813 (GRCm39)	V455A	possibly damaging	Het
Fmn2	C	A	1: 174,409,488 (GRCm39)	Q574K	unknown	Het
Gm6871	A	T	7: 41,195,143 (GRCm39)	S531R	probably benign	Het
Golga2	T	A	2: 32,195,482 (GRCm39)		probably null	Het
Hydin	C	T	8: 111,316,203 (GRCm39)	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600 (GRCm39)		probably null	Het
Kbtbd12	A	C	6: 88,595,042 (GRCm39)	S263A	probably benign	Het
Kcng4	T	C	8: 120,360,226 (GRCm39)	D50G	probably benign	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Klk1b4	A	G	7: 43,856,875 (GRCm39)		probably benign	Het
Klk7	G	A	7: 43,462,753 (GRCm39)	C186Y	probably damaging	Het
Krbox5	A	T	13: 67,981,984 (GRCm39)	R65S	probably benign	Het
Krit1	T	C	5: 3,886,799 (GRCm39)	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,476,721 (GRCm39)	D342E	probably damaging	Het
Lsm14b	T	G	2: 179,673,588 (GRCm39)	D199E	probably benign	Het
Map3k4	A	T	17: 12,490,617 (GRCm39)	N271K	possibly damaging	Het
Mast1	T	A	8: 85,638,697 (GRCm39)	N1544I	probably benign	Het
Megf6	T	A	4: 154,355,147 (GRCm39)	C1487*	probably null	Het
Mlh3	C	A	12: 85,315,528 (GRCm39)	K219N	possibly damaging	Het
Mtmr4	A	G	11: 87,493,656 (GRCm39)	K305E	probably damaging	Het
Myo15a	A	G	11: 60,405,762 (GRCm39)	M3105V	probably benign	Het
Nbas	A	T	12: 13,563,563 (GRCm39)	I1958F	probably benign	Het
Nepro	A	T	16: 44,556,216 (GRCm39)	Q458L	probably damaging	Het
Opa3	T	C	7: 18,978,837 (GRCm39)	Y101H	probably damaging	Het
Or11g25	T	A	14: 50,723,757 (GRCm39)	F281I	probably benign	Het
Or14c41	T	A	7: 86,235,272 (GRCm39)	I263N	probably benign	Het
Or4f15	T	A	2: 111,814,042 (GRCm39)	I126L	possibly damaging	Het
Or51f1d	T	C	7: 102,700,583 (GRCm39)	I26T	probably benign	Het
Or5ac16	A	G	16: 59,022,379 (GRCm39)	S137P	probably benign	Het
Or8b12	A	G	9: 37,657,607 (GRCm39)	Y59C	possibly damaging	Het
Pate3	T	C	9: 35,559,412 (GRCm39)	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,648,771 (GRCm39)	D633E	possibly damaging	Het
Pgm2	C	T	5: 64,285,125 (GRCm39)	P589L	probably benign	Het
Pigg	T	A	5: 108,465,257 (GRCm39)	D163E	probably damaging	Het
Polq	A	G	16: 36,880,586 (GRCm39)	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,448,094 (GRCm39)	M268K	possibly damaging	Het
Prmt9	T	C	8: 78,291,737 (GRCm39)	C370R	probably benign	Het
Prss57	A	T	10: 79,623,219 (GRCm39)	V76E	possibly damaging	Het
Psme3ip1	T	C	8: 95,315,439 (GRCm39)	E31G	probably damaging	Het
Pzp	T	C	6: 128,467,535 (GRCm39)	E1089G	possibly damaging	Het
Qars1	T	A	9: 108,385,400 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,304,115 (GRCm39)	Y625H	probably damaging	Het
Rgl2	G	A	17: 34,150,718 (GRCm39)	D59N	probably benign	Het
Robo1	T	G	16: 72,801,555 (GRCm39)	W1060G	probably benign	Het
Scaper	A	T	9: 55,771,830 (GRCm39)	V362E	probably benign	Het
Schip1	T	C	3: 68,525,017 (GRCm39)	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,256,276 (GRCm39)	V252D	probably damaging	Het
Shld2	C	A	14: 33,990,130 (GRCm39)	V259L	probably benign	Het
Slc17a6	A	T	7: 51,295,957 (GRCm39)	H199L	possibly damaging	Het
Slc29a1	A	G	17: 45,898,234 (GRCm39)	Y325H	probably damaging	Het
Slc29a4	G	T	5: 142,699,817 (GRCm39)	W156L	probably damaging	Het
Slc5a3	T	A	16: 91,874,644 (GRCm39)	S234T	probably benign	Het
Srd5a3	T	G	5: 76,297,630 (GRCm39)	V20G	probably damaging	Het
Stac	A	T	9: 111,433,150 (GRCm39)	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,052,260 (GRCm39)	T766S	probably benign	Het
Tas2r102	A	G	6: 132,739,254 (GRCm39)	D54G	probably benign	Het
Tbpl1	A	G	10: 22,583,742 (GRCm39)	V105A	probably damaging	Het
Tenm3	G	T	8: 48,870,214 (GRCm39)	P193Q	probably benign	Het
Tes	G	A	6: 17,104,754 (GRCm39)	V403M	probably benign	Het
Tgfbr2	A	C	9: 115,938,948 (GRCm39)	I318S	probably damaging	Het
Tgfbr3	C	A	5: 107,284,796 (GRCm39)	V618L	probably benign	Het
Tmc1	C	T	19: 20,793,473 (GRCm39)		probably null	Het
Tmem132a	G	A	19: 10,835,870 (GRCm39)	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,454,312 (GRCm39)	S33*	probably null	Het
Tob1	A	G	11: 94,104,580 (GRCm39)	K39E	probably damaging	Het
Tut7	A	T	13: 59,939,635 (GRCm39)	H705Q	probably damaging	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Usp25	T	C	16: 76,878,442 (GRCm39)	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,489,855 (GRCm39)	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,442,136 (GRCm39)	I99K	possibly damaging	Het
Vwa7	T	A	17: 35,243,924 (GRCm39)	V786E	probably damaging	Het
Xkr5	A	G	8: 18,989,148 (GRCm39)	F248S	probably benign	Het
Zzef1	A	T	11: 72,801,098 (GRCm39)	K2444M	probably damaging	Het

Other mutations in Ephb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ephb3	APN	16	21,039,165 (GRCm39)	splice site	probably null
IGL00966:Ephb3	APN	16	21,036,044 (GRCm39)	missense	probably benign	0.00
IGL02166:Ephb3	APN	16	21,039,499 (GRCm39)	missense	probably damaging	1.00
IGL02245:Ephb3	APN	16	21,040,174 (GRCm39)	missense	probably benign	0.04
IGL02321:Ephb3	APN	16	21,033,139 (GRCm39)	missense	probably damaging	1.00
IGL02337:Ephb3	APN	16	21,040,253 (GRCm39)	splice site	probably null
IGL02507:Ephb3	APN	16	21,039,389 (GRCm39)	splice site	probably benign
IGL02755:Ephb3	APN	16	21,040,448 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ephb3	APN	16	21,041,031 (GRCm39)	missense	probably benign	0.02
PIT4362001:Ephb3	UTSW	16	21,039,607 (GRCm39)	missense	probably damaging	1.00
R0026:Ephb3	UTSW	16	21,033,667 (GRCm39)	missense	probably damaging	1.00
R0194:Ephb3	UTSW	16	21,036,859 (GRCm39)	missense	probably benign	0.01
R0196:Ephb3	UTSW	16	21,036,804 (GRCm39)	missense	probably damaging	1.00
R0230:Ephb3	UTSW	16	21,039,525 (GRCm39)	missense	probably damaging	1.00
R0828:Ephb3	UTSW	16	21,037,784 (GRCm39)	unclassified	probably benign
R1126:Ephb3	UTSW	16	21,041,226 (GRCm39)	missense	possibly damaging	0.87
R1460:Ephb3	UTSW	16	21,037,672 (GRCm39)	missense	probably benign
R1592:Ephb3	UTSW	16	21,040,450 (GRCm39)	missense	probably damaging	1.00
R1632:Ephb3	UTSW	16	21,031,687 (GRCm39)	missense	probably benign	0.00
R1694:Ephb3	UTSW	16	21,040,495 (GRCm39)	missense	probably damaging	1.00
R1719:Ephb3	UTSW	16	21,039,400 (GRCm39)	missense	probably damaging	1.00
R1928:Ephb3	UTSW	16	21,041,045 (GRCm39)	missense	possibly damaging	0.86
R1956:Ephb3	UTSW	16	21,040,132 (GRCm39)	missense	probably damaging	1.00
R2378:Ephb3	UTSW	16	21,036,993 (GRCm39)	missense	probably benign
R3408:Ephb3	UTSW	16	21,038,254 (GRCm39)	missense	probably damaging	0.99
R4027:Ephb3	UTSW	16	21,040,447 (GRCm39)	missense	probably damaging	1.00
R4429:Ephb3	UTSW	16	21,033,213 (GRCm39)	missense	probably damaging	1.00
R4655:Ephb3	UTSW	16	21,040,958 (GRCm39)	missense	probably damaging	0.98
R4826:Ephb3	UTSW	16	21,033,745 (GRCm39)	missense	possibly damaging	0.90
R4828:Ephb3	UTSW	16	21,033,745 (GRCm39)	missense	possibly damaging	0.90
R4960:Ephb3	UTSW	16	21,039,245 (GRCm39)	missense	probably benign	0.09
R5057:Ephb3	UTSW	16	21,039,197 (GRCm39)	missense	probably damaging	1.00
R5090:Ephb3	UTSW	16	21,033,237 (GRCm39)	missense	probably damaging	1.00
R5396:Ephb3	UTSW	16	21,037,855 (GRCm39)	missense	possibly damaging	0.91
R5540:Ephb3	UTSW	16	21,039,610 (GRCm39)	missense	probably damaging	1.00
R5628:Ephb3	UTSW	16	21,036,869 (GRCm39)	missense	probably damaging	1.00
R5666:Ephb3	UTSW	16	21,041,241 (GRCm39)	missense	probably benign	0.08
R5838:Ephb3	UTSW	16	21,040,437 (GRCm39)	missense	probably damaging	1.00
R5866:Ephb3	UTSW	16	21,030,129 (GRCm39)	intron	probably benign
R6017:Ephb3	UTSW	16	21,040,781 (GRCm39)	missense	probably damaging	1.00
R6020:Ephb3	UTSW	16	21,040,763 (GRCm39)	missense	probably damaging	0.99
R6510:Ephb3	UTSW	16	21,036,861 (GRCm39)	missense	probably damaging	0.98
R6539:Ephb3	UTSW	16	21,040,218 (GRCm39)	missense	probably benign
R6591:Ephb3	UTSW	16	21,033,223 (GRCm39)	missense	probably damaging	1.00
R6691:Ephb3	UTSW	16	21,033,223 (GRCm39)	missense	probably damaging	1.00
R7101:Ephb3	UTSW	16	21,037,268 (GRCm39)	missense	possibly damaging	0.86
R7111:Ephb3	UTSW	16	21,037,577 (GRCm39)	nonsense	probably null
R7236:Ephb3	UTSW	16	21,033,231 (GRCm39)	missense	probably damaging	1.00
R7307:Ephb3	UTSW	16	21,040,976 (GRCm39)	missense	probably benign	0.04
R7410:Ephb3	UTSW	16	21,040,158 (GRCm39)	missense	possibly damaging	0.75
R7413:Ephb3	UTSW	16	21,033,457 (GRCm39)	missense	probably damaging	1.00
R7452:Ephb3	UTSW	16	21,036,107 (GRCm39)	splice site	probably null
R7944:Ephb3	UTSW	16	21,040,434 (GRCm39)	missense	probably damaging	1.00
R7945:Ephb3	UTSW	16	21,040,434 (GRCm39)	missense	probably damaging	1.00
R9092:Ephb3	UTSW	16	21,041,214 (GRCm39)	missense	probably benign	0.01
R9504:Ephb3	UTSW	16	21,036,830 (GRCm39)	missense	possibly damaging	0.48
R9706:Ephb3	UTSW	16	21,039,193 (GRCm39)	missense	probably damaging	1.00
Z1176:Ephb3	UTSW	16	21,036,786 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TTTGTAGCTGGAGTTGGGCAATACC -3'
(R):5'- ACCCAGTGTGCAGCAGACAAAG -3'

Sequencing Primer
(F):5'- GCAATACCAGCATTGCCC -3'
(R):5'- acgtcagcatgtcatctaactc -3'

Posted On

2014-05-23