Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Ephb3'

191327

Institutional Source

Beutler Lab

Gene Symbol

Ephb3

Ensembl Gene

ENSMUSG00000005958

Gene Name

Eph receptor B3

Synonyms

Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21023530-21042054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21039400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 384 (E384G)

Ref Sequence

ENSEMBL: ENSMUSP00000124375 (fasta)

Gene Model

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

AlphaFold

P54754

Predicted Effect

probably damaging
Transcript: ENSMUST00000006112
AA Change: E638G

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

SMART Domains

Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: E638G

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: E384G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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 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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,904,526 (GRCm39)	K263M	probably damaging	Het
Adam26a	G	A	8: 44,023,073 (GRCm39)	T139M	possibly damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap9	C	T	5: 4,007,645 (GRCm39)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm39)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,215,430 (GRCm39)	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cblc	A	T	7: 19,524,399 (GRCm39)	D280E	probably benign	Het
Cdk11b	T	C	4: 155,732,854 (GRCm39)		probably benign	Het
Cela2a	G	T	4: 141,545,257 (GRCm39)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,463,828 (GRCm39)	C342S	probably benign	Het
Clca4a	C	A	3: 144,669,516 (GRCm39)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,808,492 (GRCm39)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,468,505 (GRCm39)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,003,062 (GRCm39)	P287S	probably damaging	Het
Dmxl1	T	A	18: 50,067,704 (GRCm39)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,927,486 (GRCm39)	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,693,936 (GRCm39)	Y56*	probably null	Het
Duox1	T	C	2: 122,169,125 (GRCm39)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 183,769,422 (GRCm39)	S129R	probably benign	Het
Dync2i1	T	C	12: 116,219,532 (GRCm39)	I137V	probably benign	Het
Epcam	G	A	17: 87,949,556 (GRCm39)	R173Q	probably damaging	Het
Exosc10	A	T	4: 148,652,960 (GRCm39)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,840,227 (GRCm39)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 108,977,242 (GRCm39)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,364,704 (GRCm39)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,436,024 (GRCm39)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm39)	F357L	possibly damaging	Het
Garre1	A	T	7: 33,947,631 (GRCm39)	M459K	probably damaging	Het
Gas2l1	G	A	11: 5,014,266 (GRCm39)	H65Y	probably damaging	Het
Gjd2	A	T	2: 113,843,614 (GRCm39)	M1K	probably null	Het
Hdgfl3	T	C	7: 81,549,432 (GRCm39)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,244,733 (GRCm39)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,437,880 (GRCm39)	S223C	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Knl1	T	A	2: 118,902,219 (GRCm39)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,624,926 (GRCm39)	L139P	probably damaging	Het
Lama3	T	C	18: 12,612,929 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,633,108 (GRCm39)	P192L	possibly damaging	Het
Lpo	T	A	11: 87,700,018 (GRCm39)		probably null	Het
Lrrc37	T	A	11: 103,507,897 (GRCm39)		probably benign	Het
Lrrd1	T	G	5: 3,900,483 (GRCm39)		probably null	Het
Nbas	T	A	12: 13,610,978 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,532,117 (GRCm39)	G341D	probably damaging	Het
Nrp1	T	C	8: 129,152,366 (GRCm39)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,583,916 (GRCm39)	V610E	probably damaging	Het
Nup160	T	G	2: 90,530,780 (GRCm39)	Y479*	probably null	Het
Oas1d	A	T	5: 121,058,025 (GRCm39)	D323V	possibly damaging	Het
Or10ak14	A	G	4: 118,610,797 (GRCm39)	W315R	possibly damaging	Het
Or14j1	A	G	17: 38,146,244 (GRCm39)	D118G	possibly damaging	Het
Or4c3d	T	C	2: 89,882,128 (GRCm39)	Y180C	probably damaging	Het
Or52e4	C	A	7: 104,706,001 (GRCm39)	H183N	probably damaging	Het
Or5ac22	T	A	16: 59,135,069 (GRCm39)	R234*	probably null	Het
Or8b3	G	A	9: 38,314,550 (GRCm39)	V127M	possibly damaging	Het
Or8c9	A	T	9: 38,241,803 (GRCm39)	T307S	probably benign	Het
Pcm1	T	A	8: 41,766,396 (GRCm39)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,279,730 (GRCm39)	V215A	probably benign	Het
Phf12	T	A	11: 77,914,427 (GRCm39)	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,595,663 (GRCm39)	E537G	probably null	Het
Plxna2	C	T	1: 194,326,678 (GRCm39)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,574,131 (GRCm39)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,772,026 (GRCm39)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,621,112 (GRCm39)		probably null	Het
Sipa1l2	A	G	8: 126,171,274 (GRCm39)	S1403P	probably damaging	Het
Sis	C	T	3: 72,872,937 (GRCm39)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Sprtn	C	A	8: 125,628,372 (GRCm39)	H154Q	probably damaging	Het
St7l	A	G	3: 104,778,303 (GRCm39)	T147A	probably benign	Het
Stab1	G	A	14: 30,867,985 (GRCm39)	Q1630*	probably null	Het
Stpg2	A	G	3: 138,937,960 (GRCm39)	D173G	probably benign	Het
Tcf20	G	A	15: 82,736,978 (GRCm39)	T1491I	probably benign	Het
Themis2	A	T	4: 132,516,960 (GRCm39)	I180N	possibly damaging	Het
Timd5	T	C	11: 46,417,121 (GRCm39)	L13P	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,638,340 (GRCm39)	V13980A	probably damaging	Het
Ttn	C	T	2: 76,575,978 (GRCm39)	V24972M	probably damaging	Het
Usp5	A	T	6: 124,800,423 (GRCm39)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,614,802 (GRCm39)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,270,435 (GRCm39)	C534G	probably damaging	Het
Wnk2	C	T	13: 49,214,202 (GRCm39)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,681,707 (GRCm39)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,451,436 (GRCm39)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,135,254 (GRCm39)	E220G	possibly 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
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
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'- GAGTTCGCCAAGGAGATCGATGTG -3'
(R):5'- TCTTACCCGTAGAAAGGAGTCCAGG -3'

Sequencing Primer
(F):5'- CCAAGGAGATCGATGTGTCCTG -3'
(R):5'- GACGACTTTTGGTGACCACAC -3'

Posted On

2014-05-14