Incidental Mutation 'R5452:Ephb4'
ID |
432569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb4
|
Ensembl Gene |
ENSMUSG00000029710 |
Gene Name |
Eph receptor B4 |
Synonyms |
MDK2, Htk, b2b2412Clo, Myk1, Tyro11 |
MMRRC Submission |
042848-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5452 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137348371-137372784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137359404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061244]
[ENSMUST00000111054]
[ENSMUST00000111055]
[ENSMUST00000144296]
[ENSMUST00000166239]
|
AlphaFold |
P54761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061244
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051622 Gene: ENSMUSG00000029710 AA Change: S325P
Domain | Start | End | E-Value | Type |
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
FN3
|
324 |
413 |
1.75e-6 |
SMART |
FN3
|
434 |
516 |
1.07e-10 |
SMART |
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111054
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106683 Gene: ENSMUSG00000029710 AA Change: S325P
Domain | Start | End | E-Value | Type |
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
Pfam:GCC2_GCC3
|
258 |
301 |
1.4e-11 |
PFAM |
FN3
|
324 |
413 |
1.75e-6 |
SMART |
FN3
|
434 |
516 |
1.07e-10 |
SMART |
Pfam:EphA2_TM
|
540 |
612 |
3.4e-26 |
PFAM |
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
Pfam:SAM_1
|
882 |
917 |
2.6e-7 |
PFAM |
low complexity region
|
919 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111055
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106684 Gene: ENSMUSG00000029710 AA Change: S325P
Domain | Start | End | E-Value | Type |
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
Pfam:GCC2_GCC3
|
258 |
301 |
4.2e-10 |
PFAM |
FN3
|
324 |
413 |
1.75e-6 |
SMART |
FN3
|
443 |
525 |
1.07e-10 |
SMART |
Pfam:EphA2_TM
|
550 |
621 |
5e-24 |
PFAM |
TyrKc
|
624 |
883 |
5.09e-130 |
SMART |
SAM
|
913 |
980 |
2.44e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144296
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115731 Gene: ENSMUSG00000029710 AA Change: S325P
Domain | Start | End | E-Value | Type |
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
FN3
|
324 |
413 |
1.75e-6 |
SMART |
FN3
|
434 |
516 |
1.07e-10 |
SMART |
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166239
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130275 Gene: ENSMUSG00000029710 AA Change: S325P
Domain | Start | End | E-Value | Type |
EPH_lbd
|
17 |
197 |
6.3e-106 |
SMART |
Pfam:GCC2_GCC3
|
258 |
301 |
2.6e-11 |
PFAM |
FN3
|
324 |
413 |
1.75e-6 |
SMART |
FN3
|
434 |
516 |
1.07e-10 |
SMART |
Pfam:EphA2_TM
|
540 |
612 |
8.9e-26 |
PFAM |
TyrKc
|
615 |
874 |
5.09e-130 |
SMART |
SAM
|
904 |
971 |
2.44e-21 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
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 2 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. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
T |
8: 41,248,801 (GRCm39) |
I304F |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
Akr1c6 |
A |
G |
13: 4,504,544 (GRCm39) |
R132G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,183 (GRCm39) |
M1354K |
possibly damaging |
Het |
C6 |
T |
C |
15: 4,844,311 (GRCm39) |
I911T |
possibly damaging |
Het |
Calm2 |
T |
C |
17: 87,743,150 (GRCm39) |
|
probably null |
Het |
Ccdc80 |
G |
A |
16: 44,938,528 (GRCm39) |
R745Q |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,721,233 (GRCm39) |
I2685T |
possibly damaging |
Het |
Chkb |
T |
C |
15: 89,313,788 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
T |
A |
6: 148,943,011 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
C |
11: 69,415,209 (GRCm39) |
Y175C |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,069,313 (GRCm39) |
S1154P |
probably benign |
Het |
Fzd9 |
C |
T |
5: 135,279,714 (GRCm39) |
R57H |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm9949 |
A |
G |
18: 62,313,587 (GRCm39) |
|
probably benign |
Het |
Gnb4 |
A |
T |
3: 32,643,994 (GRCm39) |
M188K |
probably benign |
Het |
Hr |
G |
T |
14: 70,794,067 (GRCm39) |
G109V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,812,328 (GRCm39) |
S2426P |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,610,413 (GRCm39) |
W88R |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Moxd2 |
C |
T |
6: 40,859,048 (GRCm39) |
|
probably null |
Het |
Mrgprx1 |
T |
C |
7: 47,671,556 (GRCm39) |
I64V |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,049,715 (GRCm39) |
S232G |
probably null |
Het |
Or5p68 |
A |
C |
7: 107,945,312 (GRCm39) |
I292S |
probably damaging |
Het |
Padi2 |
T |
C |
4: 140,659,382 (GRCm39) |
F229S |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,666,172 (GRCm39) |
N1136S |
probably benign |
Het |
Pcdhb1 |
A |
T |
18: 37,398,811 (GRCm39) |
N254I |
possibly damaging |
Het |
Plcb2 |
A |
G |
2: 118,548,727 (GRCm39) |
Y400H |
probably damaging |
Het |
Plce1 |
A |
C |
19: 38,608,926 (GRCm39) |
T412P |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,519 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,586,501 (GRCm39) |
N2510S |
possibly damaging |
Het |
Psme4 |
T |
A |
11: 30,741,168 (GRCm39) |
S107T |
probably benign |
Het |
Resf1 |
C |
A |
6: 149,230,611 (GRCm39) |
S1219* |
probably null |
Het |
Rint1 |
G |
T |
5: 23,999,363 (GRCm39) |
A51S |
probably benign |
Het |
Rsad1 |
T |
A |
11: 94,434,515 (GRCm39) |
R306S |
probably damaging |
Het |
Sema3c |
T |
G |
5: 17,922,068 (GRCm39) |
|
probably null |
Het |
Sirt3 |
G |
A |
7: 140,444,928 (GRCm39) |
T290I |
probably damaging |
Het |
Spam1 |
G |
A |
6: 24,800,731 (GRCm39) |
G490D |
probably benign |
Het |
Speer4f2 |
C |
T |
5: 17,581,498 (GRCm39) |
R147W |
possibly damaging |
Het |
Sppl2c |
A |
T |
11: 104,078,126 (GRCm39) |
I309L |
probably benign |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
St3gal4 |
C |
T |
9: 34,964,752 (GRCm39) |
R152H |
probably damaging |
Het |
Sv2c |
A |
T |
13: 96,114,591 (GRCm39) |
F532I |
probably damaging |
Het |
Tacc1 |
C |
A |
8: 25,654,431 (GRCm39) |
K705N |
probably null |
Het |
Tekt3 |
G |
T |
11: 62,985,619 (GRCm39) |
S475I |
probably damaging |
Het |
Tjap1 |
T |
C |
17: 46,571,101 (GRCm39) |
T139A |
probably damaging |
Het |
Tnfrsf8 |
T |
A |
4: 145,019,214 (GRCm39) |
K207M |
possibly damaging |
Het |
Tnn |
T |
C |
1: 159,937,831 (GRCm39) |
T965A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trmt2a |
A |
G |
16: 18,068,814 (GRCm39) |
H270R |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,780,037 (GRCm39) |
L448P |
probably benign |
Het |
Ttll4 |
C |
A |
1: 74,718,480 (GRCm39) |
N110K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,948,471 (GRCm39) |
Y215H |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,698,783 (GRCm39) |
Y1595H |
possibly damaging |
Het |
Unc45a |
G |
A |
7: 79,978,787 (GRCm39) |
P621S |
probably damaging |
Het |
Xrn2 |
A |
T |
2: 146,866,633 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ephb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00542:Ephb4
|
APN |
5 |
137,363,877 (GRCm39) |
splice site |
probably benign |
|
IGL00948:Ephb4
|
APN |
5 |
137,364,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01653:Ephb4
|
APN |
5 |
137,364,003 (GRCm39) |
splice site |
probably benign |
|
IGL01885:Ephb4
|
APN |
5 |
137,356,059 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01906:Ephb4
|
APN |
5 |
137,359,456 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02089:Ephb4
|
APN |
5 |
137,369,024 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02216:Ephb4
|
APN |
5 |
137,370,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02233:Ephb4
|
APN |
5 |
137,352,763 (GRCm39) |
nonsense |
probably null |
|
IGL03080:Ephb4
|
APN |
5 |
137,352,345 (GRCm39) |
splice site |
probably benign |
|
IGL03111:Ephb4
|
APN |
5 |
137,370,767 (GRCm39) |
missense |
probably benign |
0.07 |
R0599:Ephb4
|
UTSW |
5 |
137,368,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Ephb4
|
UTSW |
5 |
137,363,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1331:Ephb4
|
UTSW |
5 |
137,364,796 (GRCm39) |
splice site |
probably benign |
|
R1441:Ephb4
|
UTSW |
5 |
137,359,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R1732:Ephb4
|
UTSW |
5 |
137,370,440 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1745:Ephb4
|
UTSW |
5 |
137,358,696 (GRCm39) |
missense |
probably benign |
|
R1831:Ephb4
|
UTSW |
5 |
137,352,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Ephb4
|
UTSW |
5 |
137,361,572 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2165:Ephb4
|
UTSW |
5 |
137,352,688 (GRCm39) |
missense |
probably benign |
0.08 |
R2206:Ephb4
|
UTSW |
5 |
137,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R2473:Ephb4
|
UTSW |
5 |
137,363,962 (GRCm39) |
missense |
probably benign |
0.15 |
R4779:Ephb4
|
UTSW |
5 |
137,363,964 (GRCm39) |
missense |
probably benign |
0.04 |
R4801:Ephb4
|
UTSW |
5 |
137,363,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ephb4
|
UTSW |
5 |
137,363,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:Ephb4
|
UTSW |
5 |
137,361,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Ephb4
|
UTSW |
5 |
137,368,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Ephb4
|
UTSW |
5 |
137,352,701 (GRCm39) |
missense |
probably benign |
0.00 |
R5662:Ephb4
|
UTSW |
5 |
137,370,457 (GRCm39) |
missense |
probably damaging |
0.98 |
R5879:Ephb4
|
UTSW |
5 |
137,358,678 (GRCm39) |
missense |
probably benign |
0.00 |
R6336:Ephb4
|
UTSW |
5 |
137,370,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R6443:Ephb4
|
UTSW |
5 |
137,358,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6632:Ephb4
|
UTSW |
5 |
137,364,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R6973:Ephb4
|
UTSW |
5 |
137,368,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7008:Ephb4
|
UTSW |
5 |
137,359,536 (GRCm39) |
missense |
probably benign |
0.00 |
R7145:Ephb4
|
UTSW |
5 |
137,370,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R7421:Ephb4
|
UTSW |
5 |
137,352,687 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7593:Ephb4
|
UTSW |
5 |
137,359,560 (GRCm39) |
missense |
probably benign |
|
R7635:Ephb4
|
UTSW |
5 |
137,370,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7751:Ephb4
|
UTSW |
5 |
137,363,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R7825:Ephb4
|
UTSW |
5 |
137,370,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8539:Ephb4
|
UTSW |
5 |
137,356,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8904:Ephb4
|
UTSW |
5 |
137,369,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Ephb4
|
UTSW |
5 |
137,352,824 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9327:Ephb4
|
UTSW |
5 |
137,361,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R9513:Ephb4
|
UTSW |
5 |
137,361,564 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9659:Ephb4
|
UTSW |
5 |
137,363,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Ephb4
|
UTSW |
5 |
137,363,743 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Ephb4
|
UTSW |
5 |
137,371,820 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ephb4
|
UTSW |
5 |
137,359,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCCATATGGTTCCTGATACAG -3'
(R):5'- TATAGGTGACATCAGGACGCAG -3'
Sequencing Primer
(F):5'- AACTCCAGGTTGTAGTCCATTGGC -3'
(R):5'- TCAACCAGGTCTCGAGGAC -3'
|
Posted On |
2016-10-06 |