Incidental Mutation 'R5858:Ephb2'
ID |
490511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb2
|
Ensembl Gene |
ENSMUSG00000028664 |
Gene Name |
Eph receptor B2 |
Synonyms |
eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5 |
MMRRC Submission |
044070-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R5858 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136399756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 589
(H589R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059287
AA Change: H589R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: H589R
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: H588R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: H588R
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: H589R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: H589R
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: H257R
|
SMART Domains |
Protein: ENSMUSP00000116350 Gene: ENSMUSG00000028664 AA Change: H257R
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 |
|
Meta Mutation Damage Score |
0.0583 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
100% (60/60) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,781,343 (GRCm39) |
Q102L |
probably benign |
Het |
Ak9 |
G |
A |
10: 41,299,023 (GRCm39) |
V1575I |
unknown |
Het |
Alg14 |
G |
A |
3: 121,113,737 (GRCm39) |
|
probably benign |
Het |
Arl5a |
T |
C |
2: 52,302,118 (GRCm39) |
I99V |
probably benign |
Het |
Cacul1 |
T |
C |
19: 60,517,482 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
C |
T |
5: 43,873,117 (GRCm39) |
R934C |
probably damaging |
Het |
Ccr2 |
A |
G |
9: 123,906,464 (GRCm39) |
E248G |
probably benign |
Het |
Cds2 |
G |
T |
2: 132,144,033 (GRCm39) |
V287L |
probably benign |
Het |
Cflar |
T |
C |
1: 58,793,010 (GRCm39) |
S459P |
probably benign |
Het |
Clcc1 |
A |
G |
3: 108,568,744 (GRCm39) |
D21G |
probably damaging |
Het |
Col8a2 |
C |
T |
4: 126,205,093 (GRCm39) |
|
probably benign |
Het |
Cops7a |
A |
T |
6: 124,937,134 (GRCm39) |
S186T |
possibly damaging |
Het |
Dagla |
C |
T |
19: 10,232,332 (GRCm39) |
|
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,667,292 (GRCm39) |
Y49C |
possibly damaging |
Het |
Dnase1 |
T |
C |
16: 3,857,513 (GRCm39) |
|
probably benign |
Het |
Dock9 |
A |
G |
14: 121,866,204 (GRCm39) |
V633A |
probably benign |
Het |
E4f1 |
A |
G |
17: 24,664,302 (GRCm39) |
F461L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,991,514 (GRCm39) |
C70* |
probably null |
Het |
Fam184b |
A |
T |
5: 45,796,461 (GRCm39) |
C41S |
probably damaging |
Het |
Hace1 |
A |
G |
10: 45,587,621 (GRCm39) |
T907A |
possibly damaging |
Het |
Il31 |
T |
A |
5: 123,618,637 (GRCm39) |
T129S |
probably benign |
Het |
Il6 |
A |
T |
5: 30,218,472 (GRCm39) |
T23S |
possibly damaging |
Het |
Kif12 |
T |
C |
4: 63,084,647 (GRCm39) |
E557G |
probably benign |
Het |
Krt24 |
A |
T |
11: 99,175,591 (GRCm39) |
L148H |
probably damaging |
Het |
Mapk8ip1 |
A |
G |
2: 92,215,317 (GRCm39) |
F635S |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,643,208 (GRCm39) |
V313E |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,860,455 (GRCm39) |
|
probably null |
Het |
Or12e10 |
A |
T |
2: 87,640,985 (GRCm39) |
I274F |
probably benign |
Het |
Or2ag1 |
T |
A |
7: 106,472,975 (GRCm39) |
Y159F |
probably benign |
Het |
Or2m13 |
A |
G |
16: 19,225,975 (GRCm39) |
S265P |
possibly damaging |
Het |
Or5b94 |
A |
G |
19: 12,651,743 (GRCm39) |
Y58C |
probably damaging |
Het |
P4ha1 |
A |
T |
10: 59,175,200 (GRCm39) |
L53F |
probably damaging |
Het |
Pcdha7 |
A |
G |
18: 37,109,279 (GRCm39) |
D768G |
probably damaging |
Het |
Pdzd2 |
T |
A |
15: 12,442,675 (GRCm39) |
D208V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,192,944 (GRCm39) |
I159K |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,964 (GRCm39) |
N761S |
probably benign |
Het |
Rpp25l |
A |
T |
4: 41,712,678 (GRCm39) |
D32E |
probably benign |
Het |
Rxrg |
A |
T |
1: 167,454,925 (GRCm39) |
K169N |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,575,460 (GRCm39) |
D4846G |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,019,821 (GRCm39) |
F553S |
probably damaging |
Het |
Spen |
T |
C |
4: 141,201,182 (GRCm39) |
I2482V |
probably benign |
Het |
Ston1 |
A |
G |
17: 88,943,059 (GRCm39) |
D155G |
possibly damaging |
Het |
Tha1 |
A |
G |
11: 117,764,210 (GRCm39) |
F6L |
unknown |
Het |
Trank1 |
T |
A |
9: 111,221,604 (GRCm39) |
D2780E |
probably benign |
Het |
Ubqln5 |
T |
C |
7: 103,778,018 (GRCm39) |
T269A |
probably benign |
Het |
Vars1 |
C |
T |
17: 35,224,451 (GRCm39) |
R324C |
probably benign |
Het |
Zfp287 |
T |
A |
11: 62,604,833 (GRCm39) |
Q691H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAAAACGTTAGAGGCAGCTGG -3'
(R):5'- ATTCCACCACCTCTAGCAAGGG -3'
Sequencing Primer
(F):5'- ACTCCAGTTCCAAGGGATCTGATG -3'
(R):5'- CACCTCTAGCAAGGGAGTGG -3'
|
Posted On |
2017-10-20 |