Mutagenetix > Incidental Mutation

Incidental Mutation 'R4272:Efnb2'

322224

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

041644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4272 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8667434-8711242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8670698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 301 (S301C)

Ref Sequence

ENSEMBL: ENSMUSP00000001319 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000001319
AA Change: S301C

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

SMART Domains

Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: S301C

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

unknown
Transcript: ENSMUST00000152698
AA Change: S184C

SMART Domains

Protein: ENSMUSP00000116027
Gene: ENSMUSG00000001300
AA Change: S184C

Domain	Start	End	E-Value	Type
Pfam:Ephrin	1	68	1.3e-19	PFAM
transmembrane domain	115	137	N/A	INTRINSIC
low complexity region	151	161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208426

Meta Mutation Damage Score

0.1179

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Ago3	T	A	4: 126,248,884 (GRCm39)	T556S	possibly damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arl5b	A	G	2: 15,077,990 (GRCm39)	E105G	probably damaging	Het
Capza3	A	G	6: 139,988,264 (GRCm39)	I288V	probably benign	Het
Chka	G	A	19: 3,925,737 (GRCm39)		probably benign	Het
Cnpy4	G	T	5: 138,190,853 (GRCm39)	V159F	probably damaging	Het
Crb1	T	C	1: 139,251,049 (GRCm39)	I301V	probably benign	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlec1	C	T	9: 118,972,231 (GRCm39)	A1417V	probably damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dync1li2	A	G	8: 105,149,775 (GRCm39)	S411P	probably damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3	A	G	13: 74,340,763 (GRCm39)	V347A	probably damaging	Het
Ezh1	A	G	11: 101,085,734 (GRCm39)	F641S	probably damaging	Het
Gcgr	T	A	11: 120,429,250 (GRCm39)		probably benign	Het
Gm4887	G	T	7: 104,470,535 (GRCm39)		noncoding transcript	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Htt	G	A	5: 35,006,413 (GRCm39)	V1441I	possibly damaging	Het
Ift70a1	A	G	2: 75,810,818 (GRCm39)	Y422H	probably damaging	Het
Lmtk2	A	G	5: 144,120,044 (GRCm39)	M1398V	probably benign	Het
Lrrc15	T	C	16: 30,092,673 (GRCm39)	N222S	probably benign	Het
Mctp2	A	T	7: 71,909,079 (GRCm39)	V78E	possibly damaging	Het
Medag	A	G	5: 149,345,628 (GRCm39)	Y103C	probably damaging	Het
Mphosph9	G	A	5: 124,442,266 (GRCm39)	P361S	probably damaging	Het
Npffr2	G	A	5: 89,715,882 (GRCm39)	V70M	probably damaging	Het
Obox3-ps8	A	C	17: 36,763,909 (GRCm39)		noncoding transcript	Het
Or4c117	A	G	2: 88,955,706 (GRCm39)	V123A	probably damaging	Het
Pdgfra	G	A	5: 75,343,731 (GRCm39)	V751I	probably benign	Het
Phykpl	T	C	11: 51,476,355 (GRCm39)	L25P	probably damaging	Het
Rgl1	A	T	1: 152,412,040 (GRCm39)	I443N	probably benign	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rragd	T	C	4: 32,996,099 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,793,483 (GRCm39)	M30K	probably damaging	Het
Rusc2	T	A	4: 43,415,533 (GRCm39)	C280S	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp2	C	A	15: 9,116,947 (GRCm39)		probably null	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Trhr	G	A	15: 44,060,620 (GRCm39)	V47I	probably damaging	Het
Trpm2	A	T	10: 77,769,476 (GRCm39)	N749K	probably damaging	Het
Ttc27	T	A	17: 75,147,355 (GRCm39)	W636R	probably damaging	Het
Ttn	C	A	2: 76,608,691 (GRCm39)	R17775L	probably damaging	Het
Vmn2r55	A	G	7: 12,402,106 (GRCm39)	F394S	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zyx	A	G	6: 42,327,880 (GRCm39)	D70G	probably damaging	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
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
R6266:Efnb2	UTSW	8	8,710,524 (GRCm39)	missense	probably benign
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'- AACTGTCCAGATCCAGGCTCTTC -3'
(R):5'- TGGCCTTATTCGCAGGGATC -3'

Sequencing Primer
(F):5'- TCCAGGCTCTTCCAGGAG -3'
(R):5'- CTTATTCGCAGGGATCGCATCAG -3'

Posted On

2015-06-20