Mutagenetix > Incidental Mutations

Incidental Mutation 'R4893:Ephb2'

377388

Institutional Source

Beutler Lab

Gene Symbol

Ephb2

Ensembl Gene

ENSMUSG00000028664

Gene Name

Eph receptor B2

Synonyms

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

MMRRC Submission

042498-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136647539-136835988 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136659753 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 722 (I722T)

Ref Sequence

ENSEMBL: ENSMUSP00000101472 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059287
AA Change: I722T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: I722T

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: I721T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: I721T

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: I722T

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

SMART Domains

Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: I722T

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

probably benign
Transcript: ENSMUST00000156558

SMART Domains

Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664

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: 98.5%
10x: 96.8%
20x: 93.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 116,971,165	I401T	probably damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Acss1	C	A	2: 150,629,866	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,200,478	D286A	probably benign	Het
Akap5	T	C	12: 76,329,969	V718A	probably damaging	Het
Ankk1	A	G	9: 49,415,683	V732A	probably benign	Het
Antxr2	T	A	5: 98,004,072	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,866,956	F1063V	probably benign	Het
Ascl5	A	T	1: 136,051,179	I126F	probably damaging	Het
Aspm	T	A	1: 139,489,839		probably null	Het
Atf6b	T	C	17: 34,648,612	S100P	probably damaging	Het
Baz2a	C	A	10: 128,123,415	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,847,419		probably benign	Het
Celsr3	C	G	9: 108,849,421	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,925,173	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,365,184	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,585,301		probably benign	Het
Cstf1	C	T	2: 172,380,524	R401C	probably damaging	Het
Cul3	A	G	1: 80,288,850	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,194,983	D124G	probably damaging	Het
Dnah12	A	G	14: 26,710,170	D381G	possibly damaging	Het
Dtna	T	C	18: 23,569,667	L85P	probably damaging	Het
Epn3	A	T	11: 94,491,996	F421I	probably damaging	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fam83f	T	A	15: 80,691,955	L269H	probably damaging	Het
Gata4	G	A	14: 63,201,596	A139V	probably benign	Het
Glce	T	C	9: 62,068,495	D241G	probably benign	Het
Gm17728	A	T	17: 9,422,231	I58F	probably benign	Het
Inhba	A	T	13: 16,026,549	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,427,821	R394L	probably benign	Het
Klhl14	T	C	18: 21,557,935	Y486C	probably damaging	Het
Krt1	A	G	15: 101,850,120	I203T	probably damaging	Het
Lims2	T	C	18: 31,941,811		probably null	Het
Lrrc31	T	G	3: 30,679,297	I423L	probably benign	Het
Map7d1	C	T	4: 126,233,222	D732N	unknown	Het
Mau2	A	T	8: 70,030,640		probably null	Het
Mbtps1	G	A	8: 119,518,193	R840W	probably damaging	Het
Morn3	T	C	5: 123,037,682	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,777,865	K63E	probably damaging	Het
Muc20	T	C	16: 32,794,672	T112A	possibly damaging	Het
Myo6	T	A	9: 80,228,877	L94Q	probably damaging	Het
Nos1	C	A	5: 117,952,877	T1423K	possibly damaging	Het
Olfr166	A	G	16: 19,486,903	T22A	probably benign	Het
Olfr31	T	C	14: 14,328,852	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,343	T1114A	probably benign	Het
Pgm1	T	C	5: 64,105,940	V310A	probably benign	Het
Pi4ka	T	C	16: 17,377,036	E166G	probably benign	Het
Pign	A	T	1: 105,646,711	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,282,000	V149L	probably benign	Het
Pkd1l3	A	T	8: 109,638,394	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,153,771	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,771,421	Q355K	probably benign	Het
Pnpla7	T	A	2: 25,053,676	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,355,344	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,599,425	S544T	probably damaging	Het
Pusl1	G	A	4: 155,889,541	T252I	probably benign	Het
Rnf44	A	G	13: 54,681,932		probably null	Het
Slc24a2	A	T	4: 87,226,908	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,455,216		probably null	Het
Sox8	T	C	17: 25,568,989	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,846		probably null	Het
Taar6	T	C	10: 23,985,400	I83V	probably benign	Het
Tes	T	A	6: 17,104,596	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,406,255	L435H	probably damaging	Het
Zfhx3	G	T	8: 108,957,007	D3693Y	unknown	Het
Zfp931	G	A	2: 178,068,203	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,542	V95G	unknown	Het
Zw10	A	G	9: 49,074,025	E587G	possibly damaging	Het

Other mutations in Ephb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ephb2	APN	4	136657484	missense	probably damaging	0.96
IGL00963:Ephb2	APN	4	136658951	missense	probably benign	0.04
IGL01111:Ephb2	APN	4	136657410	missense	probably benign	0.01
IGL01462:Ephb2	APN	4	136771370	missense	possibly damaging	0.61
IGL01863:Ephb2	APN	4	136659777	missense	probably benign	0.03
IGL02149:Ephb2	APN	4	136693914	missense	probably damaging	1.00
IGL02232:Ephb2	APN	4	136657451	missense	probably damaging	0.97
IGL02269:Ephb2	APN	4	136771049	missense	possibly damaging	0.66
IGL02828:Ephb2	APN	4	136771150	missense	probably benign	0.09
IGL03109:Ephb2	APN	4	136771544	missense	probably damaging	1.00
IGL03284:Ephb2	APN	4	136661516	missense	probably damaging	0.96
PIT4453001:Ephb2	UTSW	4	136660810	missense	probably benign	0.00
R0004:Ephb2	UTSW	4	136657524	missense	probably damaging	1.00
R0121:Ephb2	UTSW	4	136771057	missense	probably damaging	0.99
R0539:Ephb2	UTSW	4	136655976	missense	probably damaging	1.00
R0614:Ephb2	UTSW	4	136673365	missense	probably benign	0.00
R0988:Ephb2	UTSW	4	136659708	missense	possibly damaging	0.59
R1471:Ephb2	UTSW	4	136658951	missense	probably benign	0.04
R1473:Ephb2	UTSW	4	136694058	missense	possibly damaging	0.83
R1546:Ephb2	UTSW	4	136771009	missense	probably damaging	0.99
R1639:Ephb2	UTSW	4	136693905	missense	probably benign	0.10
R1725:Ephb2	UTSW	4	136659778	nonsense	probably null
R1779:Ephb2	UTSW	4	136693825	missense	possibly damaging	0.64
R1818:Ephb2	UTSW	4	136655336	missense	probably benign	0.02
R2099:Ephb2	UTSW	4	136660755	missense	probably damaging	1.00
R2916:Ephb2	UTSW	4	136683945	missense	probably damaging	0.99
R3885:Ephb2	UTSW	4	136771034	missense	probably damaging	1.00
R4572:Ephb2	UTSW	4	136655940	missense	probably damaging	1.00
R4709:Ephb2	UTSW	4	136696052	missense	probably damaging	1.00
R4981:Ephb2	UTSW	4	136696010	missense	probably benign	0.09
R4992:Ephb2	UTSW	4	136660839	missense	probably damaging	1.00
R5004:Ephb2	UTSW	4	136659699	missense	possibly damaging	0.77
R5307:Ephb2	UTSW	4	136693787	missense	possibly damaging	0.89
R5370:Ephb2	UTSW	4	136771570	missense	probably benign	0.00
R5561:Ephb2	UTSW	4	136661406	missense	probably damaging	1.00
R5643:Ephb2	UTSW	4	136771612	missense	probably damaging	0.99
R5826:Ephb2	UTSW	4	136660737	missense	probably damaging	1.00
R5858:Ephb2	UTSW	4	136672445	missense	probably benign
R5867:Ephb2	UTSW	4	136675422	missense	possibly damaging	0.81
R5990:Ephb2	UTSW	4	136696055	missense	probably benign	0.03
R6000:Ephb2	UTSW	4	136684030	missense	possibly damaging	0.76
R6156:Ephb2	UTSW	4	136661505	missense	probably benign	0.44
R6413:Ephb2	UTSW	4	136771122	missense	probably benign	0.08
R6577:Ephb2	UTSW	4	136657550	missense	probably damaging	0.99
R6633:Ephb2	UTSW	4	136683996	missense	probably benign	0.07
R6720:Ephb2	UTSW	4	136657502	missense	probably damaging	0.99
R6795:Ephb2	UTSW	4	136673335	missense	possibly damaging	0.88
R7235:Ephb2	UTSW	4	136693828	missense	probably damaging	1.00
R7260:Ephb2	UTSW	4	136771574	missense	probably damaging	0.96
R7328:Ephb2	UTSW	4	136658934	critical splice donor site	probably null
R7404:Ephb2	UTSW	4	136771213	missense	probably damaging	1.00
R7466:Ephb2	UTSW	4	136659065	missense	probably damaging	1.00
R7524:Ephb2	UTSW	4	136659709	missense	probably damaging	1.00
R7605:Ephb2	UTSW	4	136771108	missense	probably damaging	1.00
R7611:Ephb2	UTSW	4	136660901	critical splice acceptor site	probably null
R7777:Ephb2	UTSW	4	136771636	missense	possibly damaging	0.92
R7889:Ephb2	UTSW	4	136771042	missense	probably damaging	0.99
R7972:Ephb2	UTSW	4	136771042	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGATGATTATGCCCAGGGAC -3'
(R):5'- TCCTCAAGTTGGCTTCTCTGAG -3'

Sequencing Primer
(F):5'- ATGATTATGCCCAGGGACCCTTG -3'
(R):5'- CTTCTCTGAGATTGCCAGGCG -3'

Posted On

2016-03-17