Incidental Mutation 'IGL02149:Ephb2'
| ID |
281891 |
| 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 # |
IGL02149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136421225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 375
(C375Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
| AlphaFold |
P54763 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: C375Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: C375Y
| 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 damaging
Transcript: ENSMUST00000105845
AA Change: C375Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: C375Y
| 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 damaging
Transcript: ENSMUST00000105846
AA Change: C375Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: C375Y
| 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 |
unknown
Transcript: ENSMUST00000156558
AA Change: C42Y
|
| SMART Domains |
Protein: ENSMUSP00000116350
Gene: ENSMUSG00000028664
AA Change: C42Y
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
| AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
| B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
| Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
| Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
| Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
| Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
| Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
| Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
| Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
| Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
| Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
| Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation