Incidental Mutation 'IGL01111:Ephb2'
| ID |
50916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephb2
|
| Ensembl Gene |
ENSMUSG00000028664 |
| Gene Name |
Eph receptor B2 |
| Synonyms |
eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
IGL01111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136384721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 897
(S897T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
| AlphaFold |
P54763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059287
AA Change: S898T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: S898T
| 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 benign
Transcript: ENSMUST00000105845
AA Change: S897T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: S897T
| 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: S898T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: S898T
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
T |
A |
18: 31,905,123 (GRCm39) |
Y121* |
probably null |
Het |
| Apc |
C |
T |
18: 34,448,189 (GRCm39) |
T1661I |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,639,150 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpt1c |
T |
C |
7: 44,614,978 (GRCm39) |
H325R |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,883 (GRCm39) |
K227E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,071,248 (GRCm39) |
K682E |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,098,971 (GRCm39) |
Y123H |
possibly damaging |
Het |
| Dnaaf9 |
G |
T |
2: 130,578,518 (GRCm39) |
D655E |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,106,669 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,071,681 (GRCm39) |
E153G |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,260,282 (GRCm39) |
Y64* |
probably null |
Het |
| Flt1 |
A |
G |
5: 147,515,146 (GRCm39) |
I1092T |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,790,972 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,520 (GRCm39) |
H67L |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,377,834 (GRCm39) |
L11P |
probably damaging |
Het |
| Jmy |
T |
C |
13: 93,577,529 (GRCm39) |
R880G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,202,081 (GRCm39) |
C532R |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,833,259 (GRCm39) |
|
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,569,099 (GRCm39) |
V591A |
possibly damaging |
Het |
| Ldc1 |
T |
A |
4: 130,115,518 (GRCm39) |
D10V |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,852 (GRCm39) |
N959Y |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,853,109 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,721 (GRCm39) |
S431T |
possibly damaging |
Het |
| Mx2 |
A |
T |
16: 97,359,919 (GRCm39) |
Q563L |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,333,990 (GRCm39) |
Y874N |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,563,553 (GRCm39) |
I1373T |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,643 (GRCm39) |
D1409V |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,473,789 (GRCm39) |
V744E |
possibly damaging |
Het |
| Or51l4 |
T |
A |
7: 103,404,580 (GRCm39) |
T71S |
probably benign |
Het |
| Pgap1 |
T |
C |
1: 54,570,102 (GRCm39) |
K315R |
probably benign |
Het |
| Rab8a |
T |
C |
8: 72,929,700 (GRCm39) |
V114A |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,496,812 (GRCm39) |
T73A |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,875 (GRCm39) |
E265G |
probably damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,671,000 (GRCm39) |
V529M |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,405,961 (GRCm39) |
A613E |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,182,120 (GRCm39) |
|
probably null |
Het |
| Tbck |
A |
G |
3: 132,400,168 (GRCm39) |
H73R |
probably damaging |
Het |
| Thg1l |
A |
T |
11: 45,839,051 (GRCm39) |
D220E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,667 (GRCm39) |
G16037D |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,096,927 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,083,831 (GRCm39) |
D68E |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,728,740 (GRCm39) |
T505A |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,711 (GRCm39) |
K25E |
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 |
|
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 |
|
R5004:Ephb2
|
UTSW |
4 |
136,387,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation