Mutagenetix > Incidental Mutation

Incidental Mutation 'R4668:Ephb6'

352139

Institutional Source

Beutler Lab

Gene Symbol

Ephb6

Ensembl Gene

ENSMUSG00000029869

Gene Name

Eph receptor B6

Synonyms

Cekl, Mep

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

R4668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41582416-41597443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41591536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 231 (L231P)

Ref Sequence

ENSEMBL: ENSMUSP00000110380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114732]

AlphaFold

O08644

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114732
AA Change: L231P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869
AA Change: L231P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
EPH_lbd	34	227	2.18e-100	SMART
low complexity region	242	255	N/A	INTRINSIC
Pfam:GCC2_GCC3	299	341	1.9e-9	PFAM
FN3	365	462	3.59e-3	SMART
FN3	481	562	3.73e-10	SMART
Pfam:EphA2_TM	589	660	3.4e-16	PFAM
Pfam:Pkinase	663	908	1.4e-29	PFAM
Pfam:Pkinase_Tyr	663	908	1.1e-67	PFAM
SAM	938	1005	1e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170624

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: T cell responses such as lymphokine secretion, proliferation, and the development of delayed-type skin hypersensitivity and experimental autoimmune encephalitis were compromised in homozygous null mutants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	T	9: 114,133,779 (GRCm39)		noncoding transcript	Het
6430548M08Rik	T	C	8: 120,887,153 (GRCm39)		probably null	Het
Abca4	G	A	3: 121,948,948 (GRCm39)	G531E	possibly damaging	Het
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acot10	T	C	15: 20,666,028 (GRCm39)	S238G	probably benign	Het
Adamtsl2	A	T	2: 26,985,487 (GRCm39)	H457L	probably benign	Het
Ankrd35	A	T	3: 96,586,524 (GRCm39)	T67S	probably damaging	Het
Aox1	T	G	1: 58,373,853 (GRCm39)	I838S	possibly damaging	Het
Arnt2	T	C	7: 83,924,594 (GRCm39)	N411S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Carns1	A	T	19: 4,215,475 (GRCm39)	Y902*	probably null	Het
Cavin1	T	C	11: 100,849,622 (GRCm39)	E336G	probably damaging	Het
Cbl	A	T	9: 44,065,145 (GRCm39)	C728S	probably benign	Het
Ccdc136	C	A	6: 29,411,280 (GRCm39)	Q218K	probably damaging	Het
Cdk19	C	A	10: 40,342,706 (GRCm39)	T196K	probably damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Ces3a	A	C	8: 105,780,055 (GRCm39)	K299T	probably damaging	Het
Cfap61	A	T	2: 145,985,056 (GRCm39)	I967F	probably damaging	Het
Cnksr1	C	T	4: 133,960,282 (GRCm39)		probably benign	Het
Cped1	T	C	6: 22,237,652 (GRCm39)	Y923H	probably benign	Het
Crip3	T	C	17: 46,740,290 (GRCm39)	L30P	probably damaging	Het
Csmd1	A	G	8: 16,073,905 (GRCm39)	I2030T	possibly damaging	Het
Ctse	C	A	1: 131,590,487 (GRCm39)	P70T	probably damaging	Het
Cyp2b23	A	G	7: 26,372,159 (GRCm39)	F429L	probably damaging	Het
Cyp2c66	T	A	19: 39,165,100 (GRCm39)	D360E	probably damaging	Het
D8Ertd738e	A	T	8: 84,976,110 (GRCm39)	L46*	probably null	Het
Dcp2	T	A	18: 44,548,429 (GRCm39)		probably null	Het
Ddx10	C	A	9: 53,010,513 (GRCm39)	D834Y	possibly damaging	Het
Ddx19a	A	T	8: 111,705,716 (GRCm39)	V245E	probably damaging	Het
Dpf2	A	C	19: 5,954,515 (GRCm39)	D130E	probably benign	Het
Emc8	A	T	8: 121,394,518 (GRCm39)	M67K	probably damaging	Het
Erp27	T	C	6: 136,885,150 (GRCm39)	E216G	possibly damaging	Het
Esco1	A	T	18: 10,594,734 (GRCm39)	I184N	possibly damaging	Het
Fdxacb1	T	A	9: 50,681,560 (GRCm39)	D11E	possibly damaging	Het
Fhod3	C	T	18: 25,199,395 (GRCm39)	P689S	probably benign	Het
Fnip1	T	A	11: 54,394,385 (GRCm39)	S940R	probably damaging	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Gldn	T	A	9: 54,239,302 (GRCm39)	L228*	probably null	Het
Gm1123	C	T	9: 98,891,426 (GRCm39)	R341H	probably damaging	Het
Gtf2f2	T	C	14: 76,155,078 (GRCm39)	Y161C	probably benign	Het
Gtf3c1	T	C	7: 125,266,510 (GRCm39)	T979A	probably damaging	Het
H4c1	A	G	13: 23,944,959 (GRCm39)	V61A	probably benign	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Hsd17b6	T	A	10: 127,830,295 (GRCm39)		probably null	Het
Igkv12-46	T	C	6: 69,741,781 (GRCm39)	T25A	probably damaging	Het
Inpp5e	G	A	2: 26,291,006 (GRCm39)	R354C	probably damaging	Het
Jcad	T	A	18: 4,680,221 (GRCm39)		probably null	Het
Kcna10	G	T	3: 107,102,010 (GRCm39)	A214S	possibly damaging	Het
Kit	T	C	5: 75,801,880 (GRCm39)		probably null	Het
Kmt2a	G	A	9: 44,735,869 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,059,429 (GRCm39)	V604A	probably benign	Het
Mesd	T	C	7: 83,544,964 (GRCm39)	V138A	probably damaging	Het
Mmp13	T	C	9: 7,272,580 (GRCm39)	F9S	possibly damaging	Het
Mocos	T	C	18: 24,799,491 (GRCm39)	Y242H	probably benign	Het
Mrc1	A	C	2: 14,298,297 (GRCm39)	T718P	probably damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Myh10	A	G	11: 68,695,468 (GRCm39)	K1532E	probably damaging	Het
Nat9	T	C	11: 115,075,368 (GRCm39)	N91S	probably damaging	Het
Neto2	A	T	8: 86,367,691 (GRCm39)	I351N	probably damaging	Het
Nfx1	A	G	4: 40,976,367 (GRCm39)	N14D	possibly damaging	Het
Nlrp4b	A	G	7: 10,448,660 (GRCm39)	T288A	possibly damaging	Het
Nutm2	C	A	13: 50,627,033 (GRCm39)	T396K	probably benign	Het
Ogdhl	A	G	14: 32,054,493 (GRCm39)	T196A	probably benign	Het
Omg	T	A	11: 79,393,249 (GRCm39)	N203I	probably damaging	Het
Or52b4i	A	G	7: 102,191,811 (GRCm39)	I223V	possibly damaging	Het
Or52r1b	A	T	7: 102,691,058 (GRCm39)	D119V	probably benign	Het
Or5b101	A	T	19: 13,005,445 (GRCm39)	F83I	probably benign	Het
Pdgfrb	A	G	18: 61,197,185 (GRCm39)	Y207C	probably damaging	Het
Pdzd7	T	A	19: 45,034,126 (GRCm39)		probably benign	Het
Pgs1	C	A	11: 117,894,333 (GRCm39)	H157N	probably damaging	Het
Pik3c2a	A	G	7: 115,957,923 (GRCm39)	V1121A	probably benign	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Pms1	G	A	1: 53,228,633 (GRCm39)	Q872*	probably null	Het
Ptgs2	A	G	1: 149,976,835 (GRCm39)	T23A	probably benign	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rif1	A	G	2: 52,001,964 (GRCm39)	E1806G	probably benign	Het
Ripor1	T	C	8: 106,341,284 (GRCm39)	V39A	probably benign	Het
Ryr2	G	T	13: 11,608,003 (GRCm39)	T868N	probably benign	Het
Sec22b	A	T	3: 97,828,438 (GRCm39)	D167V	probably damaging	Het
Sec24d	T	C	3: 123,149,423 (GRCm39)	V810A	probably damaging	Het
Shh	T	C	5: 28,662,853 (GRCm39)	*438W	probably null	Het
Slc25a12	G	A	2: 71,145,406 (GRCm39)	S178L	probably benign	Het
Sorl1	A	T	9: 41,895,804 (GRCm39)	W1784R	probably damaging	Het
Sp3	A	T	2: 72,801,325 (GRCm39)	S229R	probably damaging	Het
Spata31f3	A	G	4: 42,871,608 (GRCm39)	F256L	probably benign	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spint2	A	T	7: 28,959,804 (GRCm39)	V53D	probably damaging	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Stk25	A	G	1: 93,553,205 (GRCm39)	S299P	probably damaging	Het
Sult2a3	A	G	7: 13,856,786 (GRCm39)	S45P	probably damaging	Het
Thsd7a	A	T	6: 12,408,967 (GRCm39)	V685E	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Topors	G	A	4: 40,262,669 (GRCm39)	T205I	probably damaging	Het
Tpo	T	A	12: 30,153,289 (GRCm39)	Y355F	probably benign	Het
Uba1y	T	A	Y: 826,032 (GRCm39)	M396K	possibly damaging	Het
Vmn1r50	A	T	6: 90,084,513 (GRCm39)	Q86L	probably benign	Het
Vmn1r77	A	G	7: 11,775,358 (GRCm39)	K45E	probably damaging	Het
Vmn2r114	A	C	17: 23,529,447 (GRCm39)	N218K	possibly damaging	Het
Vmn2r66	T	A	7: 84,643,905 (GRCm39)	N835I	probably damaging	Het
Vps54	T	G	11: 21,249,989 (GRCm39)	N458K	probably benign	Het
Zcchc7	G	T	4: 44,895,964 (GRCm39)	C304F	probably damaging	Het
Zfp335	A	T	2: 164,742,206 (GRCm39)	C593S	probably damaging	Het
Zmynd15	C	G	11: 70,353,414 (GRCm39)	P214R	probably damaging	Het

Other mutations in Ephb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Ephb6	APN	6	41,592,845 (GRCm39)	unclassified	probably benign
IGL01691:Ephb6	APN	6	41,591,449 (GRCm39)	missense	probably benign	0.26
IGL02052:Ephb6	APN	6	41,590,256 (GRCm39)	missense	probably benign
IGL02079:Ephb6	APN	6	41,592,948 (GRCm39)	missense	possibly damaging	0.57
IGL03089:Ephb6	APN	6	41,591,108 (GRCm39)	missense	probably damaging	1.00
P4748:Ephb6	UTSW	6	41,594,219 (GRCm39)	missense	probably damaging	0.96
R0022:Ephb6	UTSW	6	41,591,503 (GRCm39)	missense	probably damaging	0.98
R0022:Ephb6	UTSW	6	41,591,503 (GRCm39)	missense	probably damaging	0.98
R0106:Ephb6	UTSW	6	41,596,528 (GRCm39)	unclassified	probably benign
R0106:Ephb6	UTSW	6	41,596,528 (GRCm39)	unclassified	probably benign
R0973:Ephb6	UTSW	6	41,591,038 (GRCm39)	missense	probably damaging	0.98
R0973:Ephb6	UTSW	6	41,591,038 (GRCm39)	missense	probably damaging	0.98
R0974:Ephb6	UTSW	6	41,591,038 (GRCm39)	missense	probably damaging	0.98
R1465:Ephb6	UTSW	6	41,593,040 (GRCm39)	missense	probably damaging	1.00
R1465:Ephb6	UTSW	6	41,593,040 (GRCm39)	missense	probably damaging	1.00
R1610:Ephb6	UTSW	6	41,591,307 (GRCm39)	nonsense	probably null
R1658:Ephb6	UTSW	6	41,591,179 (GRCm39)	missense	probably damaging	1.00
R1687:Ephb6	UTSW	6	41,594,300 (GRCm39)	missense	probably benign	0.08
R1733:Ephb6	UTSW	6	41,596,654 (GRCm39)	missense	probably benign	0.10
R2191:Ephb6	UTSW	6	41,593,019 (GRCm39)	missense	possibly damaging	0.82
R2439:Ephb6	UTSW	6	41,595,669 (GRCm39)	missense	probably benign	0.31
R2915:Ephb6	UTSW	6	41,591,172 (GRCm39)	missense	probably damaging	1.00
R3020:Ephb6	UTSW	6	41,591,455 (GRCm39)	missense	probably damaging	1.00
R3499:Ephb6	UTSW	6	41,593,093 (GRCm39)	nonsense	probably null
R4606:Ephb6	UTSW	6	41,593,508 (GRCm39)	missense	probably benign	0.15
R4663:Ephb6	UTSW	6	41,594,799 (GRCm39)	missense	probably damaging	1.00
R4762:Ephb6	UTSW	6	41,595,094 (GRCm39)	missense	probably damaging	0.99
R4767:Ephb6	UTSW	6	41,591,119 (GRCm39)	missense	possibly damaging	0.81
R4780:Ephb6	UTSW	6	41,593,073 (GRCm39)	missense	probably damaging	1.00
R4846:Ephb6	UTSW	6	41,593,743 (GRCm39)	missense	probably benign
R4851:Ephb6	UTSW	6	41,595,079 (GRCm39)	missense	probably benign	0.00
R5016:Ephb6	UTSW	6	41,595,041 (GRCm39)	missense	probably benign	0.01
R5122:Ephb6	UTSW	6	41,590,338 (GRCm39)	missense	probably benign	0.00
R5313:Ephb6	UTSW	6	41,593,727 (GRCm39)	missense	possibly damaging	0.68
R5615:Ephb6	UTSW	6	41,596,225 (GRCm39)	missense	probably benign
R5623:Ephb6	UTSW	6	41,593,415 (GRCm39)	missense	probably benign	0.20
R5686:Ephb6	UTSW	6	41,596,638 (GRCm39)	missense	possibly damaging	0.57
R5840:Ephb6	UTSW	6	41,592,507 (GRCm39)	missense	possibly damaging	0.94
R6147:Ephb6	UTSW	6	41,593,715 (GRCm39)	missense	probably damaging	1.00
R6645:Ephb6	UTSW	6	41,594,206 (GRCm39)	missense	probably benign	0.01
R6730:Ephb6	UTSW	6	41,594,308 (GRCm39)	nonsense	probably null
R7412:Ephb6	UTSW	6	41,597,173 (GRCm39)	missense	probably damaging	1.00
R7442:Ephb6	UTSW	6	41,594,981 (GRCm39)	splice site	probably null
R7759:Ephb6	UTSW	6	41,591,539 (GRCm39)	missense	probably benign	0.00
R7857:Ephb6	UTSW	6	41,590,331 (GRCm39)	missense	probably benign
R8425:Ephb6	UTSW	6	41,595,580 (GRCm39)	missense	probably damaging	0.98
R8697:Ephb6	UTSW	6	41,591,157 (GRCm39)	missense	probably damaging	0.99
R8898:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R8959:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R8961:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R8980:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R8989:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R8992:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R9065:Ephb6	UTSW	6	41,590,293 (GRCm39)	missense	probably benign
R9413:Ephb6	UTSW	6	41,591,509 (GRCm39)	missense
R9512:Ephb6	UTSW	6	41,593,030 (GRCm39)	missense	possibly damaging	0.70
R9617:Ephb6	UTSW	6	41,596,258 (GRCm39)	missense	probably damaging	1.00
R9619:Ephb6	UTSW	6	41,594,249 (GRCm39)	missense	possibly damaging	0.72
R9705:Ephb6	UTSW	6	41,596,715 (GRCm39)	missense	probably benign	0.05
R9764:Ephb6	UTSW	6	41,592,911 (GRCm39)	missense	probably benign	0.01
X0027:Ephb6	UTSW	6	41,597,014 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAACGCTGGACCAAAGTG -3'
(R):5'- ACCTGCCTTCGCCATTACAG -3'

Sequencing Primer
(F):5'- CAATTGCCGCAGATGAGAGCTTC -3'
(R):5'- CGCCATTACAGTGTAACCTTGGG -3'

Posted On

2015-10-08