Mutagenetix > Incidental Mutations

Incidental Mutation 'R7404:Ephb2'

574405

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136647539-136835988 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136771213 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 185 (M185K)

Ref Sequence

ENSEMBL: ENSMUSP00000101471 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059287
AA Change: M185K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: M185K

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: M185K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: M185K

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: M185K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: M185K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
Ablim3	C	T	18: 61,822,028	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,225,118	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,703,312	R43G	unknown	Het
Asah2	T	C	19: 32,057,854	T24A	probably benign	Het
Asb17	G	A	3: 153,844,810		probably null	Het
Atp8b5	C	T	4: 43,342,640	T437I	probably benign	Het
Bbs2	T	C	8: 94,082,364	D311G	probably damaging	Het
Birc6	C	T	17: 74,639,794	T2851I	possibly damaging	Het
Cchcr1	T	C	17: 35,524,796	W266R	probably benign	Het
Col14a1	C	A	15: 55,388,628	S560*	probably null	Het
Crocc	G	A	4: 141,026,186	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,219,207	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,986,825	D336V	probably damaging	Het
D430042O09Rik	A	T	7: 125,865,262	N1267I	probably damaging	Het
Dapk1	A	G	13: 60,719,641	T221A	probably benign	Het
Dnah11	G	T	12: 118,104,808	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,666,063	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,159,781	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,720,844	E223G	possibly damaging	Het
Fcer1a	T	C	1: 173,221,516	K243E	probably damaging	Het
Fcgbp	T	A	7: 28,101,507	I1326N	probably damaging	Het
Fgfr1	T	C	8: 25,555,550	V45A	probably benign	Het
Filip1	T	A	9: 79,820,098	E413V	possibly damaging	Het
Frs3	T	C	17: 47,702,726		probably null	Het
Fstl4	A	G	11: 53,134,071	T257A	probably benign	Het
Gm15922	T	C	7: 3,739,345	Y61C	probably damaging	Het
Golga5	A	T	12: 102,484,519	K477M	probably damaging	Het
Gpr171	A	T	3: 59,098,201	I51K	probably damaging	Het
H1f0	T	A	15: 79,028,880	Y53*	probably null	Het
Hephl1	A	G	9: 15,069,751	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,720,759	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,500,945	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,806,218	Y255F	probably benign	Het
Hspa9	T	C	18: 34,943,276	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,237,685	I100N	probably damaging	Het
Ifi207	C	T	1: 173,728,928	S748N	possibly damaging	Het
Kcnma1	G	T	14: 24,002,834	T180K	unknown	Het
Kctd16	A	G	18: 40,258,773	D138G	probably damaging	Het
Kifc3	A	G	8: 95,103,464	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,845,495	Q3928L	unknown	Het
Lamb2	C	T	9: 108,487,583	R1179C	probably damaging	Het
Layn	T	A	9: 51,057,370	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,626,471	T232M	probably damaging	Het
Lrp1	T	C	10: 127,582,708	T38A		Het
Map3k14	A	G	11: 103,239,092	V333A	probably benign	Het
Med13	T	C	11: 86,286,446	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,421,413	S224A	probably benign	Het
Msh6	G	T	17: 87,975,120			Het
Ncapd3	A	G	9: 27,067,019	D838G	probably benign	Het
Nlrp1a	C	A	11: 71,097,093	E1184*	probably null	Het
Npat	T	A	9: 53,554,933		probably null	Het
Nup210	A	T	6: 91,073,245	I414N	probably benign	Het
Olfr1097	A	C	2: 86,890,873	L101V	probably benign	Het
Olfr1346	T	C	7: 6,474,164	L18P	probably damaging	Het
Olfr1484	T	A	19: 13,585,388	I28N	possibly damaging	Het
Olfr187	T	C	16: 59,036,240	T166A	possibly damaging	Het
Olfr378	A	T	11: 73,425,593	L130H	probably damaging	Het
Olfr666	A	T	7: 104,892,974	V218E	possibly damaging	Het
Olfr876	A	T	9: 37,803,961	T17S	possibly damaging	Het
Otud7b	G	C	3: 96,136,625		probably null	Het
Phf11d	A	C	14: 59,359,493	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,090,706	S964T	probably damaging	Het
Plod3	G	A	5: 136,995,047	V687I	probably benign	Het
Poglut1	T	G	16: 38,537,922	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,533,863	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,911,386	A166T	unknown	Het
Rhbdl3	C	T	11: 80,346,833	S297L	probably damaging	Het
Rxra	A	T	2: 27,741,854	N179I	probably damaging	Het
Ryr2	C	T	13: 11,735,620	E1922K	probably damaging	Het
Scube1	T	C	15: 83,615,010	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,531,357	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047	K92N	probably damaging	Het
Slc13a3	T	C	2: 165,434,064	N254S	possibly damaging	Het
Slc17a7	T	A	7: 45,172,930	Y397N	probably benign	Het
Slc25a3	A	G	10: 91,117,040	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,726,826	V390E	probably damaging	Het
Sorbs2	G	A	8: 45,759,196		probably null	Het
Srgap1	T	C	10: 121,785,745	N948D	probably benign	Het
Tacc2	A	T	7: 130,623,336	T584S	probably benign	Het
Tec	A	T	5: 72,763,618	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,931,604	A430V	probably benign	Het
Tmcc2	A	T	1: 132,361,021	D309E	probably damaging	Het
Tmem82	G	A	4: 141,617,431	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,577	Q21R	probably damaging	Het
Ttc37	T	A	13: 76,148,747	Y1074*	probably null	Het
Ubl3	A	G	5: 148,511,954	F26L	probably damaging	Het
Upf2	A	G	2: 6,040,203	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780	I1362F	probably benign	Het
Wnk4	T	A	11: 101,268,492		probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,415,248	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,240,344	V56D	probably 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
R4893:Ephb2	UTSW	4	136659753	missense	probably damaging	0.99
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
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'- CGTCCCCGTTACAGTAGAGTTTG -3'
(R):5'- TCAACCTCTACTACTATGAGGCTG -3'

Sequencing Primer
(F):5'- GATGGGCACATCCACTTCTTCAG -3'
(R):5'- GAGGCTGATTTTGACTTAGCCACC -3'

Posted On

2019-09-13