Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Ephb3'

23331

Institutional Source

Beutler Lab

Gene Symbol

Ephb3

Ensembl Gene

ENSMUSG00000005958

Gene Name

Eph receptor B3

Synonyms

Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R0194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21023530-21042054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21036859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 107 (D107E)

Ref Sequence

ENSEMBL: ENSMUSP00000124375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006112] [ENSMUST00000161063] [ENSMUST00000231316] [ENSMUST00000232407]

AlphaFold

P54754

Predicted Effect

probably benign
Transcript: ENSMUST00000006112
AA Change: D361E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: D361E

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
EPH_lbd	31	204	6.47e-126	SMART
Pfam:GCC2_GCC3	269	312	5.8e-9	PFAM
FN3	332	430	8.43e-9	SMART
FN3	448	527	2.72e-12	SMART
Pfam:EphA2_TM	555	625	1e-24	PFAM
TyrKc	628	887	1.35e-134	SMART
SAM	917	984	3.88e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160053

Predicted Effect

probably benign
Transcript: ENSMUST00000161063
AA Change: D107E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000231316

Predicted Effect

probably benign
Transcript: ENSMUST00000232407

Meta Mutation Damage Score

0.0978

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		probably benign	Het

Other mutations in Ephb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ephb3	APN	16	21,039,165 (GRCm39)	splice site	probably null
IGL00966:Ephb3	APN	16	21,036,044 (GRCm39)	missense	probably benign	0.00
IGL02166:Ephb3	APN	16	21,039,499 (GRCm39)	missense	probably damaging	1.00
IGL02245:Ephb3	APN	16	21,040,174 (GRCm39)	missense	probably benign	0.04
IGL02321:Ephb3	APN	16	21,033,139 (GRCm39)	missense	probably damaging	1.00
IGL02337:Ephb3	APN	16	21,040,253 (GRCm39)	splice site	probably null
IGL02507:Ephb3	APN	16	21,039,389 (GRCm39)	splice site	probably benign
IGL02755:Ephb3	APN	16	21,040,448 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ephb3	APN	16	21,041,031 (GRCm39)	missense	probably benign	0.02
PIT4362001:Ephb3	UTSW	16	21,039,607 (GRCm39)	missense	probably damaging	1.00
R0026:Ephb3	UTSW	16	21,033,667 (GRCm39)	missense	probably damaging	1.00
R0196:Ephb3	UTSW	16	21,036,804 (GRCm39)	missense	probably damaging	1.00
R0230:Ephb3	UTSW	16	21,039,525 (GRCm39)	missense	probably damaging	1.00
R0828:Ephb3	UTSW	16	21,037,784 (GRCm39)	unclassified	probably benign
R1126:Ephb3	UTSW	16	21,041,226 (GRCm39)	missense	possibly damaging	0.87
R1460:Ephb3	UTSW	16	21,037,672 (GRCm39)	missense	probably benign
R1592:Ephb3	UTSW	16	21,040,450 (GRCm39)	missense	probably damaging	1.00
R1632:Ephb3	UTSW	16	21,031,687 (GRCm39)	missense	probably benign	0.00
R1694:Ephb3	UTSW	16	21,040,495 (GRCm39)	missense	probably damaging	1.00
R1719:Ephb3	UTSW	16	21,039,400 (GRCm39)	missense	probably damaging	1.00
R1777:Ephb3	UTSW	16	21,035,985 (GRCm39)	missense	probably damaging	0.99
R1928:Ephb3	UTSW	16	21,041,045 (GRCm39)	missense	possibly damaging	0.86
R1956:Ephb3	UTSW	16	21,040,132 (GRCm39)	missense	probably damaging	1.00
R2378:Ephb3	UTSW	16	21,036,993 (GRCm39)	missense	probably benign
R3408:Ephb3	UTSW	16	21,038,254 (GRCm39)	missense	probably damaging	0.99
R4027:Ephb3	UTSW	16	21,040,447 (GRCm39)	missense	probably damaging	1.00
R4429:Ephb3	UTSW	16	21,033,213 (GRCm39)	missense	probably damaging	1.00
R4655:Ephb3	UTSW	16	21,040,958 (GRCm39)	missense	probably damaging	0.98
R4826:Ephb3	UTSW	16	21,033,745 (GRCm39)	missense	possibly damaging	0.90
R4828:Ephb3	UTSW	16	21,033,745 (GRCm39)	missense	possibly damaging	0.90
R4960:Ephb3	UTSW	16	21,039,245 (GRCm39)	missense	probably benign	0.09
R5057:Ephb3	UTSW	16	21,039,197 (GRCm39)	missense	probably damaging	1.00
R5090:Ephb3	UTSW	16	21,033,237 (GRCm39)	missense	probably damaging	1.00
R5396:Ephb3	UTSW	16	21,037,855 (GRCm39)	missense	possibly damaging	0.91
R5540:Ephb3	UTSW	16	21,039,610 (GRCm39)	missense	probably damaging	1.00
R5628:Ephb3	UTSW	16	21,036,869 (GRCm39)	missense	probably damaging	1.00
R5666:Ephb3	UTSW	16	21,041,241 (GRCm39)	missense	probably benign	0.08
R5838:Ephb3	UTSW	16	21,040,437 (GRCm39)	missense	probably damaging	1.00
R5866:Ephb3	UTSW	16	21,030,129 (GRCm39)	intron	probably benign
R6017:Ephb3	UTSW	16	21,040,781 (GRCm39)	missense	probably damaging	1.00
R6020:Ephb3	UTSW	16	21,040,763 (GRCm39)	missense	probably damaging	0.99
R6510:Ephb3	UTSW	16	21,036,861 (GRCm39)	missense	probably damaging	0.98
R6539:Ephb3	UTSW	16	21,040,218 (GRCm39)	missense	probably benign
R6591:Ephb3	UTSW	16	21,033,223 (GRCm39)	missense	probably damaging	1.00
R6691:Ephb3	UTSW	16	21,033,223 (GRCm39)	missense	probably damaging	1.00
R7101:Ephb3	UTSW	16	21,037,268 (GRCm39)	missense	possibly damaging	0.86
R7111:Ephb3	UTSW	16	21,037,577 (GRCm39)	nonsense	probably null
R7236:Ephb3	UTSW	16	21,033,231 (GRCm39)	missense	probably damaging	1.00
R7307:Ephb3	UTSW	16	21,040,976 (GRCm39)	missense	probably benign	0.04
R7410:Ephb3	UTSW	16	21,040,158 (GRCm39)	missense	possibly damaging	0.75
R7413:Ephb3	UTSW	16	21,033,457 (GRCm39)	missense	probably damaging	1.00
R7452:Ephb3	UTSW	16	21,036,107 (GRCm39)	splice site	probably null
R7944:Ephb3	UTSW	16	21,040,434 (GRCm39)	missense	probably damaging	1.00
R7945:Ephb3	UTSW	16	21,040,434 (GRCm39)	missense	probably damaging	1.00
R9092:Ephb3	UTSW	16	21,041,214 (GRCm39)	missense	probably benign	0.01
R9504:Ephb3	UTSW	16	21,036,830 (GRCm39)	missense	possibly damaging	0.48
R9706:Ephb3	UTSW	16	21,039,193 (GRCm39)	missense	probably damaging	1.00
Z1176:Ephb3	UTSW	16	21,036,786 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CAACGCTGGGATAAGTGTCCAAGG -3'
(R):5'- TCAAGTTCAGTACCCACAGGAGCC -3'

Sequencing Primer
(F):5'- TAAGTGTCCAAGGCAGAGC -3'
(R):5'- CTCTGTATCCAGGGCAAGATGAC -3'

Posted On

2013-04-16