Mutagenetix > Incidental Mutation

Incidental Mutation 'R2916:Ephb2'

254875

Institutional Source

Beutler Lab

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 #

R2916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136374850-136563299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136411256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 468 (D468G)

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: D468G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: D468G

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 damaging
Transcript: ENSMUST00000105845
AA Change: D468G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: D468G

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: D468G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: D468G

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

unknown
Transcript: ENSMUST00000156558
AA Change: D135G

SMART Domains

Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664
AA Change: D135G

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

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa13	T	C	15: 58,208,476 (GRCm39)		noncoding transcript	Het
Brd7	A	G	8: 89,069,408 (GRCm39)	I429T	probably damaging	Het
Btbd10	T	C	7: 112,932,031 (GRCm39)	M124V	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fig4	A	G	10: 41,134,071 (GRCm39)	F404S	probably damaging	Het
Hcn3	A	G	3: 89,054,920 (GRCm39)	S776P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Il17re	G	A	6: 113,442,989 (GRCm39)		probably null	Het
Mug2	A	G	6: 122,051,683 (GRCm39)		probably null	Het
Nudt9	C	A	5: 104,203,424 (GRCm39)	A121E	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,101,876 (GRCm39)		probably benign	Het
Pkdcc	G	C	17: 83,523,378 (GRCm39)	A162P	probably benign	Het
Rassf4	A	G	6: 116,618,701 (GRCm39)	V194A	probably damaging	Het
Rps24	T	C	14: 24,542,009 (GRCm39)	V23A	probably benign	Het
Six3	A	T	17: 85,929,061 (GRCm39)	I132F	probably benign	Het
Srsf12	C	T	4: 33,231,042 (GRCm39)	R179*	probably null	Het
Zbtb14	C	T	17: 69,695,214 (GRCm39)	P304L	probably damaging	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
IGL03284:Ephb2	APN	4	136,388,827 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGGCATATCGTTCAGACAG -3'
(R):5'- GGCTCTCGTGCTTCTAAAATAAG -3'

Sequencing Primer
(F):5'- TGGCATATCGTTCAGACAGACAGC -3'
(R):5'- AATAAGTTGTACTTCCTCATGCCTG -3'

Posted On

2014-12-29