Mutagenetix > Incidental Mutation

Incidental Mutation 'R6510:Ephb3'

519892

Institutional Source

Beutler Lab

Gene Symbol

Ephb3

Ensembl Gene

ENSMUSG00000005958

Gene Name

Eph receptor B3

Synonyms

Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2

MMRRC Submission

044423-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R6510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21023530-21042054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21036861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 108 (D108G)

Ref Sequence

ENSEMBL: ENSMUSP00000124375 (fasta)

Gene Model

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

AlphaFold

P54754

Predicted Effect

probably damaging
Transcript: ENSMUST00000006112
AA Change: D362G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: D362G

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

probably damaging
Transcript: ENSMUST00000161063
AA Change: D108G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000231316

Predicted Effect

probably benign
Transcript: ENSMUST00000232407

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.6%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,770,645 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,707,609 (GRCm39)	T1266A	possibly damaging	Het
Arhgef17	T	C	7: 100,527,743 (GRCm39)	N1758S	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,482 (GRCm39)	E182D	probably benign	Het
Ears2	T	C	7: 121,662,217 (GRCm39)	D77G	probably damaging	Het
Foxp4	A	G	17: 48,186,335 (GRCm39)	F452S	unknown	Het
Gas2	T	C	7: 51,593,460 (GRCm39)	L180P	probably damaging	Het
Gm28168	T	C	1: 117,875,685 (GRCm39)	Y105H	probably damaging	Het
Ifi205	T	A	1: 173,845,131 (GRCm39)	D217V	probably damaging	Het
Igsf9	C	G	1: 172,317,864 (GRCm39)	Q74E	possibly damaging	Het
Itga2	A	T	13: 115,009,816 (GRCm39)	F380I	probably damaging	Het
Kremen2	A	G	17: 23,962,629 (GRCm39)	V128A	possibly damaging	Het
Mmp20	T	A	9: 7,643,967 (GRCm39)	N218K	probably damaging	Het
Msh3	T	A	13: 92,489,772 (GRCm39)	K73*	probably null	Het
Or4c103	C	T	2: 88,513,302 (GRCm39)	R258H	probably benign	Het
Pate2	T	A	9: 35,581,018 (GRCm39)	C11S	probably null	Het
Prkag2	G	T	5: 25,305,286 (GRCm39)		probably benign	Het
Serpini2	T	C	3: 75,159,875 (GRCm39)	D297G	probably damaging	Het
Sgca	A	T	11: 94,854,058 (GRCm39)	L137Q	probably benign	Het
Treml4	A	G	17: 48,581,472 (GRCm39)	D249G	probably benign	Het
Vmn1r226	T	C	17: 20,908,115 (GRCm39)	C116R	probably benign	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
R1777:Ephb3	UTSW	16	21,035,985 (GRCm39)	missense	probably damaging	0.99
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
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'- GCAGAAAGATTATTGACAACGCTG -3'
(R):5'- TTTTGCCTGAGACACCGTTGAC -3'

Sequencing Primer
(F):5'- CAACGCTGGGATAAGTGTCC -3'
(R):5'- TGAGACACCGTTGACAGCCTG -3'

Posted On

2018-06-06