Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Efnb2'

507009

Institutional Source

Beutler Lab

Gene Symbol

Efnb2

Ensembl Gene

ENSMUSG00000001300

Gene Name

ephrin B2

Synonyms

Eplg5, Epl5, Lerk5, Htk-L, NLERK-1, LERK-5, ELF-2

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8667434-8711242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8710524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 31 (I31V)

Ref Sequence

ENSEMBL: ENSMUSP00000001319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001319] [ENSMUST00000048545]

AlphaFold

P52800

PDB Structure

CRYSTAL STRUCTURE OF THE MURINE EPHRIN-B2 ECTODOMAIN [X-RAY DIFFRACTION]
Crystal Structure of the EphB2-ephrinB2 complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000001319
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: I31V

Domain	Start	End	E-Value	Type
Pfam:Ephrin	32	167	4.6e-53	PFAM
transmembrane domain	231	253	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048545

SMART Domains

Protein: ENSMUSP00000039493
Gene: ENSMUSG00000040459

Domain	Start	End	E-Value	Type
low complexity region	3	75	N/A	INTRINSIC
low complexity region	95	113	N/A	INTRINSIC
Pfam:ARGLU	117	267	8.2e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000048606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209169

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in angiogenesis of both arteries and veins and die by embryonic day 11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	Het

Other mutations in Efnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Efnb2	APN	8	8,710,589 (GRCm39)	missense	probably benign	0.08
IGL02076:Efnb2	APN	8	8,710,488 (GRCm39)	missense	probably benign
IGL03333:Efnb2	APN	8	8,689,275 (GRCm39)	nonsense	probably null
IGL03098:Efnb2	UTSW	8	8,713,420 (GRCm39)	unclassified	probably benign
R1416:Efnb2	UTSW	8	8,672,329 (GRCm39)	critical splice donor site	probably null
R1760:Efnb2	UTSW	8	8,673,184 (GRCm39)	missense	possibly damaging	0.90
R1783:Efnb2	UTSW	8	8,673,237 (GRCm39)	missense	probably damaging	1.00
R4272:Efnb2	UTSW	8	8,670,698 (GRCm39)	missense	probably damaging	0.99
R4398:Efnb2	UTSW	8	8,670,832 (GRCm39)	missense	possibly damaging	0.80
R4782:Efnb2	UTSW	8	8,673,104 (GRCm39)	splice site	probably null
R4799:Efnb2	UTSW	8	8,673,104 (GRCm39)	splice site	probably null
R5193:Efnb2	UTSW	8	8,673,162 (GRCm39)	missense	probably damaging	1.00
R5443:Efnb2	UTSW	8	8,670,862 (GRCm39)	missense	probably damaging	1.00
R5749:Efnb2	UTSW	8	8,689,347 (GRCm39)	missense	probably damaging	1.00
R6083:Efnb2	UTSW	8	8,672,328 (GRCm39)	splice site	probably null
R6482:Efnb2	UTSW	8	8,670,637 (GRCm39)	missense	probably damaging	1.00
R7371:Efnb2	UTSW	8	8,710,524 (GRCm39)	missense	probably benign
R8813:Efnb2	UTSW	8	8,670,731 (GRCm39)	missense	probably damaging	1.00
R9630:Efnb2	UTSW	8	8,670,617 (GRCm39)	missense	probably damaging	1.00
Z1177:Efnb2	UTSW	8	8,673,147 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCCACCTAGAGAAATGTGG -3'
(R):5'- TGGATCTATAGTCAGGCGGC -3'

Sequencing Primer
(F):5'- CCCACCTAGAGAAATGTGGAAGGG -3'
(R):5'- TCTATAGTCAGGCGGCCCCTC -3'

Posted On

2018-03-15