Incidental Mutation 'IGL02232:Ephb2'
| ID |
285734 |
| 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 # |
IGL02232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 136384762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 884
(M884R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
| AlphaFold |
P54763 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: M884R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: M884R
| 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: M883R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: M883R
| 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 |
possibly damaging
Transcript: ENSMUST00000105846
AA Change: M884R
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: M884R
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
| Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,454,764 (GRCm39) |
M527T |
probably benign |
Het |
| Ahi1 |
C |
T |
10: 20,857,274 (GRCm39) |
T623M |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
| Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
| Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
| Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
| Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
| Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
| Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
| Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
| Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
| Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
| Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
| Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
| Pard3b |
C |
T |
1: 62,205,541 (GRCm39) |
T445I |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,669 (GRCm39) |
N226S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,039,811 (GRCm39) |
T200I |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
| Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
| Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
| Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
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 |
|
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