Mutagenetix > Incidental Mutation

Incidental Mutation 'R5004:Ephb2'

390041

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

MMRRC Submission

042597-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136374850-136563299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136387010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 739 (D739V)

Ref Sequence

ENSEMBL: ENSMUSP00000101471 (fasta)

Gene Model

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

AlphaFold

P54763

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059287
AA Change: D740V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: D740V

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

possibly damaging
Transcript: ENSMUST00000105845
AA Change: D739V

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: D739V

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 benign
Transcript: ENSMUST00000105846
AA Change: D740V

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: D740V

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: 98.4%
10x: 96.8%
20x: 94.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,605,927 (GRCm39)	D189E	possibly damaging	Het
Abca5	C	T	11: 110,170,202 (GRCm39)	E1298K	probably damaging	Het
Actg1	C	A	11: 120,238,986 (GRCm39)		probably benign	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alox12e	A	G	11: 70,212,330 (GRCm39)	V116A	probably benign	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,194,497 (GRCm39)	S391C	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,568,956 (GRCm39)		probably null	Het
Cav3	A	G	6: 112,436,885 (GRCm39)	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,844,241 (GRCm39)	R101H	probably damaging	Het
Cops7b	A	G	1: 86,515,132 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,295,310 (GRCm39)	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,458,238 (GRCm39)	S23P	probably damaging	Het
Cyp4f13	T	G	17: 33,144,760 (GRCm39)	I275L	probably benign	Het
Dlgap1	T	A	17: 71,025,222 (GRCm39)		probably null	Het
Dnajc12	A	T	10: 63,222,486 (GRCm39)	I4L	probably benign	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,727,080 (GRCm39)	N303I	probably damaging	Het
Fdxr	T	C	11: 115,160,399 (GRCm39)	E352G	probably benign	Het
Fhad1	T	G	4: 141,729,910 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,063,577 (GRCm39)		probably benign	Het
Fndc7	G	A	3: 108,790,789 (GRCm39)	T79M	probably damaging	Het
Fry	A	G	5: 150,357,069 (GRCm39)	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr15lg	A	T	14: 36,824,622 (GRCm39)	C60S	probably damaging	Het
Hacl1	C	A	14: 31,340,996 (GRCm39)	C346F	probably benign	Het
Hectd4	C	A	5: 121,466,262 (GRCm39)		probably null	Het
Hectd4	C	T	5: 121,467,628 (GRCm39)	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Itih4	T	G	14: 30,614,629 (GRCm39)	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,124,383 (GRCm39)	K91*	probably null	Het
Kiz	C	G	2: 146,811,899 (GRCm39)	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Kndc1	C	A	7: 139,512,792 (GRCm39)	C1514*	probably null	Het
Lipo2	A	G	19: 33,699,076 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,279,268 (GRCm39)	D5921G	probably damaging	Het
Mau2	A	G	8: 70,478,537 (GRCm39)	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,789,923 (GRCm39)	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,175,079 (GRCm39)	Y3H	probably damaging	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,631,535 (GRCm39)	L22R	probably benign	Het
Msln	T	G	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Myh15	T	A	16: 48,952,411 (GRCm39)	I827N	probably damaging	Het
Myh7	T	C	14: 55,209,140 (GRCm39)	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,877,844 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nup210l	A	T	3: 90,087,472 (GRCm39)	R1082*	probably null	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Or5p63	T	A	7: 107,811,323 (GRCm39)	K138*	probably null	Het
Or7e169	T	C	9: 19,757,398 (GRCm39)	I172M	probably benign	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,138,016 (GRCm39)	A690E	probably benign	Het
Pramel22	T	C	4: 143,380,706 (GRCm39)	Q439R	probably benign	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prrc2a	T	A	17: 35,368,974 (GRCm39)	N2021Y	probably benign	Het
Prss3	T	C	6: 41,350,836 (GRCm39)	Y218C	probably damaging	Het
Psg20	T	C	7: 18,414,837 (GRCm39)	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667 (GRCm38)	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,462,059 (GRCm39)	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,444,977 (GRCm39)	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 106,345,452 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,639 (GRCm39)	L68P	probably damaging	Het
Rsph6a	A	T	7: 18,791,665 (GRCm39)	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,269,617 (GRCm39)	Q92*	probably null	Het
Scfd1	A	G	12: 51,491,777 (GRCm39)	R580G	probably benign	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sema4b	C	A	7: 79,866,093 (GRCm39)	T154N	probably benign	Het
Septin14	T	A	5: 129,770,040 (GRCm39)	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,334,338 (GRCm39)	S235T	probably benign	Het
Setd4	G	T	16: 93,388,133 (GRCm39)	H118N	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,069,546 (GRCm39)	H402Q	probably damaging	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spef2	T	G	15: 9,578,413 (GRCm39)	S1704R	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Steap1	G	T	5: 5,792,829 (GRCm39)	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,578,440 (GRCm39)	T115S	probably benign	Het
Tet2	A	T	3: 133,193,140 (GRCm39)	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,611,872 (GRCm39)	V170G	probably benign	Het
Tom1	T	C	8: 75,778,630 (GRCm39)	L99P	probably damaging	Het
Trim11	C	A	11: 58,872,164 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,755,264 (GRCm39)	K955R	probably damaging	Het
Tubd1	C	T	11: 86,452,146 (GRCm39)	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,490,884 (GRCm39)	M13I	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Usp34	A	G	11: 23,414,586 (GRCm39)	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,584,135 (GRCm39)	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r51	T	A	7: 9,821,932 (GRCm39)	E584D	probably benign	Het
Zbtb22	G	T	17: 34,136,217 (GRCm39)	A121S	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,089,267 (GRCm39)	V335M	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
R2916:Ephb2	UTSW	4	136,411,256 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAGATGATTATGCCCAGGGAC -3'
(R):5'- CCTCAAGTTGGCTTCTCTGAG -3'

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

Posted On

2016-06-06