Incidental Mutation 'IGL01863:Ephb2'
ID |
178413 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ephb2
|
Ensembl Gene |
ENSMUSG00000028664 |
Gene Name |
Eph receptor B2 |
Synonyms |
Erk, eteck, Tyro5, Prkm5, Drt, Hek5, Sek3, Qek5, Cek5, Nuk |
Accession Numbers |
|
Is this an essential gene? |
Probably essential
(E-score: 0.764)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
136647539-136835988 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136659777 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 713
(Q713R)
|
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: Q714R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: Q714R
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: Q713R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: Q713R
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: Q714R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: Q714R
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,339,911 |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,672,092 |
T171A |
probably benign |
Het |
Armc4 |
T |
C |
18: 7,222,617 |
T551A |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,985,506 |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,591,889 |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,394,022 |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 71,989,926 |
V395A |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 140,120,679 |
M824K |
probably benign |
Het |
Fam46c |
C |
T |
3: 100,472,664 |
D259N |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,970,619 |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,022,771 |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,504,210 |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,419,936 |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,550,226 |
I435R |
probably damaging |
Het |
Lrrc6 |
A |
T |
15: 66,396,974 |
|
probably benign |
Het |
Olfr291 |
T |
C |
7: 84,856,411 |
L14P |
probably damaging |
Het |
Omg |
C |
T |
11: 79,502,224 |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,021,487 |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,606,066 |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 69,989,554 |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,213,484 |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,516,492 |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,909,084 |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,981,325 |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 |
I782T |
possibly damaging |
Het |
Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 80,274,311 |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,145,333 |
I54V |
probably benign |
Het |
|
Other mutations in Ephb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ephb2
|
APN |
4 |
136657484 |
missense |
probably damaging |
0.96 |
IGL00963:Ephb2
|
APN |
4 |
136658951 |
missense |
probably benign |
0.04 |
IGL01111:Ephb2
|
APN |
4 |
136657410 |
missense |
probably benign |
0.01 |
IGL01462:Ephb2
|
APN |
4 |
136771370 |
missense |
possibly damaging |
0.61 |
IGL02149:Ephb2
|
APN |
4 |
136693914 |
missense |
probably damaging |
1.00 |
IGL02232:Ephb2
|
APN |
4 |
136657451 |
missense |
probably damaging |
0.97 |
IGL02269:Ephb2
|
APN |
4 |
136771049 |
missense |
possibly damaging |
0.66 |
IGL02828:Ephb2
|
APN |
4 |
136771150 |
missense |
probably benign |
0.09 |
IGL03109:Ephb2
|
APN |
4 |
136771544 |
missense |
probably damaging |
1.00 |
IGL03284:Ephb2
|
APN |
4 |
136661516 |
missense |
probably damaging |
0.96 |
Zimbalist
|
UTSW |
4 |
136659709 |
missense |
probably damaging |
1.00 |
BB006:Ephb2
|
UTSW |
4 |
136660884 |
missense |
probably damaging |
1.00 |
BB016:Ephb2
|
UTSW |
4 |
136660884 |
missense |
probably damaging |
1.00 |
PIT4453001:Ephb2
|
UTSW |
4 |
136660810 |
missense |
probably benign |
0.00 |
R0004:Ephb2
|
UTSW |
4 |
136657524 |
missense |
probably damaging |
1.00 |
R0121:Ephb2
|
UTSW |
4 |
136771057 |
missense |
probably damaging |
0.99 |
R0539:Ephb2
|
UTSW |
4 |
136655976 |
missense |
probably damaging |
1.00 |
R0614:Ephb2
|
UTSW |
4 |
136673365 |
missense |
probably benign |
0.00 |
R0988:Ephb2
|
UTSW |
4 |
136659708 |
missense |
possibly damaging |
0.59 |
R1471:Ephb2
|
UTSW |
4 |
136658951 |
missense |
probably benign |
0.04 |
R1473:Ephb2
|
UTSW |
4 |
136694058 |
missense |
possibly damaging |
0.83 |
R1546:Ephb2
|
UTSW |
4 |
136771009 |
missense |
probably damaging |
0.99 |
R1639:Ephb2
|
UTSW |
4 |
136693905 |
missense |
probably benign |
0.10 |
R1725:Ephb2
|
UTSW |
4 |
136659778 |
nonsense |
probably null |
|
R1779:Ephb2
|
UTSW |
4 |
136693825 |
missense |
possibly damaging |
0.64 |
R1818:Ephb2
|
UTSW |
4 |
136655336 |
missense |
probably benign |
0.02 |
R2099:Ephb2
|
UTSW |
4 |
136660755 |
missense |
probably damaging |
1.00 |
R2916:Ephb2
|
UTSW |
4 |
136683945 |
missense |
probably damaging |
0.99 |
R3885:Ephb2
|
UTSW |
4 |
136771034 |
missense |
probably damaging |
1.00 |
R4572:Ephb2
|
UTSW |
4 |
136655940 |
missense |
probably damaging |
1.00 |
R4709:Ephb2
|
UTSW |
4 |
136696052 |
missense |
probably damaging |
1.00 |
R4893:Ephb2
|
UTSW |
4 |
136659753 |
missense |
probably damaging |
0.99 |
R4981:Ephb2
|
UTSW |
4 |
136696010 |
missense |
probably benign |
0.09 |
R4992:Ephb2
|
UTSW |
4 |
136660839 |
missense |
probably damaging |
1.00 |
R5004:Ephb2
|
UTSW |
4 |
136659699 |
missense |
possibly damaging |
0.77 |
R5307:Ephb2
|
UTSW |
4 |
136693787 |
missense |
possibly damaging |
0.89 |
R5370:Ephb2
|
UTSW |
4 |
136771570 |
missense |
probably benign |
0.00 |
R5561:Ephb2
|
UTSW |
4 |
136661406 |
missense |
probably damaging |
1.00 |
R5643:Ephb2
|
UTSW |
4 |
136771612 |
missense |
probably damaging |
0.99 |
R5826:Ephb2
|
UTSW |
4 |
136660737 |
missense |
probably damaging |
1.00 |
R5858:Ephb2
|
UTSW |
4 |
136672445 |
missense |
probably benign |
|
R5867:Ephb2
|
UTSW |
4 |
136675422 |
missense |
possibly damaging |
0.81 |
R5990:Ephb2
|
UTSW |
4 |
136696055 |
missense |
probably benign |
0.03 |
R6000:Ephb2
|
UTSW |
4 |
136684030 |
missense |
possibly damaging |
0.76 |
R6156:Ephb2
|
UTSW |
4 |
136661505 |
missense |
probably benign |
0.44 |
R6413:Ephb2
|
UTSW |
4 |
136771122 |
missense |
probably benign |
0.08 |
R6577:Ephb2
|
UTSW |
4 |
136657550 |
missense |
probably damaging |
0.99 |
R6633:Ephb2
|
UTSW |
4 |
136683996 |
missense |
probably benign |
0.07 |
R6720:Ephb2
|
UTSW |
4 |
136657502 |
missense |
probably damaging |
0.99 |
R6795:Ephb2
|
UTSW |
4 |
136673335 |
missense |
possibly damaging |
0.88 |
R7235:Ephb2
|
UTSW |
4 |
136693828 |
missense |
probably damaging |
1.00 |
R7260:Ephb2
|
UTSW |
4 |
136771574 |
missense |
probably damaging |
0.96 |
R7328:Ephb2
|
UTSW |
4 |
136658934 |
critical splice donor site |
probably null |
|
R7404:Ephb2
|
UTSW |
4 |
136771213 |
missense |
probably damaging |
1.00 |
R7466:Ephb2
|
UTSW |
4 |
136659065 |
missense |
probably damaging |
1.00 |
R7524:Ephb2
|
UTSW |
4 |
136659709 |
missense |
probably damaging |
1.00 |
R7605:Ephb2
|
UTSW |
4 |
136771108 |
missense |
probably damaging |
1.00 |
R7611:Ephb2
|
UTSW |
4 |
136660901 |
critical splice acceptor site |
probably null |
|
R7777:Ephb2
|
UTSW |
4 |
136771636 |
missense |
possibly damaging |
0.92 |
R7889:Ephb2
|
UTSW |
4 |
136771042 |
missense |
probably damaging |
0.99 |
R7929:Ephb2
|
UTSW |
4 |
136660884 |
missense |
probably damaging |
1.00 |
R8191:Ephb2
|
UTSW |
4 |
136658945 |
missense |
probably damaging |
0.96 |
R8370:Ephb2
|
UTSW |
4 |
136655991 |
missense |
possibly damaging |
0.95 |
R8444:Ephb2
|
UTSW |
4 |
136661400 |
missense |
probably damaging |
1.00 |
R8724:Ephb2
|
UTSW |
4 |
136771057 |
missense |
probably damaging |
0.99 |
R8988:Ephb2
|
UTSW |
4 |
136675458 |
missense |
probably benign |
0.42 |
R9410:Ephb2
|
UTSW |
4 |
136659637 |
missense |
probably null |
1.00 |
|
Posted On |
2014-05-07 |