Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03284:Ephb2'

415662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ephb2

Ensembl Gene

ENSMUSG00000028664

Gene Name

Eph receptor B2

Synonyms

eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

IGL03284

Quality Score

Status

Chromosome

Chromosomal Location

136374850-136563299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136388827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 590 (M590T)

Ref Sequence

ENSEMBL: ENSMUSP00000101472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059287] [ENSMUST00000105845] [ENSMUST00000105846]

AlphaFold

P54763

Predicted Effect

probably damaging
Transcript: ENSMUST00000059287
AA Change: M590T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: M590T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EPH_lbd	20	197	7.37e-130	SMART
Pfam:GCC2_GCC3	261	304	8.1e-10	PFAM
FN3	325	417	1.75e-6	SMART
FN3	436	518	1.23e-10	SMART
Pfam:EphA2_TM	545	619	6e-25	PFAM
TyrKc	622	881	1.34e-138	SMART
SAM	911	978	1.18e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105845
AA Change: M589T

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

SMART Domains

Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: M589T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EPH_lbd	20	197	7.37e-130	SMART
Pfam:GCC2_GCC3	259	305	2.2e-10	PFAM
FN3	325	417	1.75e-6	SMART
FN3	436	517	1.41e-10	SMART
Pfam:EphA2_TM	543	618	2.1e-30	PFAM
TyrKc	621	880	1.34e-138	SMART
SAM	910	977	1.18e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105846
AA Change: M590T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: M590T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EPH_lbd	20	197	7.37e-130	SMART
Pfam:GCC2_GCC3	259	305	2.2e-10	PFAM
FN3	325	417	1.75e-6	SMART
FN3	436	517	1.41e-10	SMART
Pfam:EphA2_TM	543	619	1e-30	PFAM
TyrKc	622	881	1.34e-138	SMART
SAM	911	978	1.18e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151502

Predicted Effect

unknown
Transcript: ENSMUST00000156558
AA Change: M258T

SMART Domains

Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664
AA Change: M258T

Domain	Start	End	E-Value	Type
FN3	1	85	6.48e1	SMART
FN3	104	186	1.23e-10	SMART
Pfam:EphA2_TM	213	276	2.5e-16	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors consist of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The encoded receptor preferentially binds membrane-bound ephrin-B ligands and is involved in nervous system and vascular development. This gene is used as a marker of intestinal stem cells. Homozygous knockout mice for this gene exhibit impaired axon guidance and vestibular function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,354 (GRCm39)		probably benign	Het
Atxn7l3b	T	C	10: 112,764,431 (GRCm39)	D66G	probably benign	Het
Dmac2	T	C	7: 25,321,851 (GRCm39)		probably null	Het
Fbxo41	C	T	6: 85,456,747 (GRCm39)	R474H	probably damaging	Het
Fcgbp	G	T	7: 27,784,857 (GRCm39)	A306S	possibly damaging	Het
Hapstr1	A	G	16: 8,673,786 (GRCm39)	I238V	possibly damaging	Het
Hmg20a	A	G	9: 56,388,901 (GRCm39)	D156G	probably benign	Het
Mast4	A	G	13: 102,887,905 (GRCm39)	V1168A	probably damaging	Het
Oog2	A	G	4: 143,923,177 (GRCm39)		probably benign	Het
Pate12	T	A	9: 36,344,759 (GRCm39)	C96S	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,914 (GRCm39)		probably benign	Het
Psmd6	A	T	14: 14,112,546 (GRCm38)	N351K	probably benign	Het
Ralgps1	T	C	2: 33,036,577 (GRCm39)		probably benign	Het
Rbl1	C	T	2: 157,035,989 (GRCm39)		probably benign	Het
Smarcc1	G	A	9: 110,004,142 (GRCm39)	V399I	probably benign	Het
Srek1	C	A	13: 103,897,045 (GRCm39)	V99F	probably damaging	Het
Styxl1	A	G	5: 135,785,949 (GRCm39)	V32A	possibly damaging	Het
Tnn	C	T	1: 159,953,022 (GRCm39)	V673I	probably benign	Het
Vmn2r107	T	A	17: 20,577,173 (GRCm39)	D390E	probably benign	Het

Other mutations in Ephb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ephb2	APN	4	136,384,795 (GRCm39)	missense	probably damaging	0.96
IGL00963:Ephb2	APN	4	136,386,262 (GRCm39)	missense	probably benign	0.04
IGL01111:Ephb2	APN	4	136,384,721 (GRCm39)	missense	probably benign	0.01
IGL01462:Ephb2	APN	4	136,498,681 (GRCm39)	missense	possibly damaging	0.61
IGL01863:Ephb2	APN	4	136,387,088 (GRCm39)	missense	probably benign	0.03
IGL02149:Ephb2	APN	4	136,421,225 (GRCm39)	missense	probably damaging	1.00
IGL02232:Ephb2	APN	4	136,384,762 (GRCm39)	missense	probably damaging	0.97
IGL02269:Ephb2	APN	4	136,498,360 (GRCm39)	missense	possibly damaging	0.66
IGL02828:Ephb2	APN	4	136,498,461 (GRCm39)	missense	probably benign	0.09
IGL03109:Ephb2	APN	4	136,498,855 (GRCm39)	missense	probably damaging	1.00
Zimbalist	UTSW	4	136,387,020 (GRCm39)	missense	probably damaging	1.00
BB006:Ephb2	UTSW	4	136,388,195 (GRCm39)	missense	probably damaging	1.00
BB016:Ephb2	UTSW	4	136,388,195 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Ephb2	UTSW	4	136,388,121 (GRCm39)	missense	probably benign	0.00
R0004:Ephb2	UTSW	4	136,384,835 (GRCm39)	missense	probably damaging	1.00
R0121:Ephb2	UTSW	4	136,498,368 (GRCm39)	missense	probably damaging	0.99
R0539:Ephb2	UTSW	4	136,383,287 (GRCm39)	missense	probably damaging	1.00
R0614:Ephb2	UTSW	4	136,400,676 (GRCm39)	missense	probably benign	0.00
R0988:Ephb2	UTSW	4	136,387,019 (GRCm39)	missense	possibly damaging	0.59
R1471:Ephb2	UTSW	4	136,386,262 (GRCm39)	missense	probably benign	0.04
R1473:Ephb2	UTSW	4	136,421,369 (GRCm39)	missense	possibly damaging	0.83
R1546:Ephb2	UTSW	4	136,498,320 (GRCm39)	missense	probably damaging	0.99
R1639:Ephb2	UTSW	4	136,421,216 (GRCm39)	missense	probably benign	0.10
R1725:Ephb2	UTSW	4	136,387,089 (GRCm39)	nonsense	probably null
R1779:Ephb2	UTSW	4	136,421,136 (GRCm39)	missense	possibly damaging	0.64
R1818:Ephb2	UTSW	4	136,382,647 (GRCm39)	missense	probably benign	0.02
R2099:Ephb2	UTSW	4	136,388,066 (GRCm39)	missense	probably damaging	1.00
R2916:Ephb2	UTSW	4	136,411,256 (GRCm39)	missense	probably damaging	0.99
R3885:Ephb2	UTSW	4	136,498,345 (GRCm39)	missense	probably damaging	1.00
R4572:Ephb2	UTSW	4	136,383,251 (GRCm39)	missense	probably damaging	1.00
R4709:Ephb2	UTSW	4	136,423,363 (GRCm39)	missense	probably damaging	1.00
R4893:Ephb2	UTSW	4	136,387,064 (GRCm39)	missense	probably damaging	0.99
R4981:Ephb2	UTSW	4	136,423,321 (GRCm39)	missense	probably benign	0.09
R4992:Ephb2	UTSW	4	136,388,150 (GRCm39)	missense	probably damaging	1.00
R5004:Ephb2	UTSW	4	136,387,010 (GRCm39)	missense	possibly damaging	0.77
R5307:Ephb2	UTSW	4	136,421,098 (GRCm39)	missense	possibly damaging	0.89
R5370:Ephb2	UTSW	4	136,498,881 (GRCm39)	missense	probably benign	0.00
R5561:Ephb2	UTSW	4	136,388,717 (GRCm39)	missense	probably damaging	1.00
R5643:Ephb2	UTSW	4	136,498,923 (GRCm39)	missense	probably damaging	0.99
R5826:Ephb2	UTSW	4	136,388,048 (GRCm39)	missense	probably damaging	1.00
R5858:Ephb2	UTSW	4	136,399,756 (GRCm39)	missense	probably benign
R5867:Ephb2	UTSW	4	136,402,733 (GRCm39)	missense	possibly damaging	0.81
R5990:Ephb2	UTSW	4	136,423,366 (GRCm39)	missense	probably benign	0.03
R6000:Ephb2	UTSW	4	136,411,341 (GRCm39)	missense	possibly damaging	0.76
R6156:Ephb2	UTSW	4	136,388,816 (GRCm39)	missense	probably benign	0.44
R6413:Ephb2	UTSW	4	136,498,433 (GRCm39)	missense	probably benign	0.08
R6577:Ephb2	UTSW	4	136,384,861 (GRCm39)	missense	probably damaging	0.99
R6633:Ephb2	UTSW	4	136,411,307 (GRCm39)	missense	probably benign	0.07
R6720:Ephb2	UTSW	4	136,384,813 (GRCm39)	missense	probably damaging	0.99
R6795:Ephb2	UTSW	4	136,400,646 (GRCm39)	missense	possibly damaging	0.88
R7235:Ephb2	UTSW	4	136,421,139 (GRCm39)	missense	probably damaging	1.00
R7260:Ephb2	UTSW	4	136,498,885 (GRCm39)	missense	probably damaging	0.96
R7328:Ephb2	UTSW	4	136,386,245 (GRCm39)	critical splice donor site	probably null
R7404:Ephb2	UTSW	4	136,498,524 (GRCm39)	missense	probably damaging	1.00
R7466:Ephb2	UTSW	4	136,386,376 (GRCm39)	missense	probably damaging	1.00
R7524:Ephb2	UTSW	4	136,387,020 (GRCm39)	missense	probably damaging	1.00
R7605:Ephb2	UTSW	4	136,498,419 (GRCm39)	missense	probably damaging	1.00
R7611:Ephb2	UTSW	4	136,388,212 (GRCm39)	critical splice acceptor site	probably null
R7777:Ephb2	UTSW	4	136,498,947 (GRCm39)	missense	possibly damaging	0.92
R7889:Ephb2	UTSW	4	136,498,353 (GRCm39)	missense	probably damaging	0.99
R7929:Ephb2	UTSW	4	136,388,195 (GRCm39)	missense	probably damaging	1.00
R8191:Ephb2	UTSW	4	136,386,256 (GRCm39)	missense	probably damaging	0.96
R8370:Ephb2	UTSW	4	136,383,302 (GRCm39)	missense	possibly damaging	0.95
R8444:Ephb2	UTSW	4	136,388,711 (GRCm39)	missense	probably damaging	1.00
R8724:Ephb2	UTSW	4	136,498,368 (GRCm39)	missense	probably damaging	0.99
R8988:Ephb2	UTSW	4	136,402,769 (GRCm39)	missense	probably benign	0.42
R9410:Ephb2	UTSW	4	136,386,948 (GRCm39)	missense	probably null	1.00
R9722:Ephb2	UTSW	4	136,384,768 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02