Incidental Mutation 'R7466:Ephb2'
ID |
578757 |
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 |
045540-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.740)
|
Stock # |
R7466 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 136386376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 791
(R791H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: R792H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: R792H
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: R791H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: R791H
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: R792H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: R792H
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (83/84) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
T |
A |
2: 34,978,753 (GRCm39) |
K203* |
probably null |
Het |
Akr1c13 |
T |
C |
13: 4,242,436 (GRCm39) |
|
probably benign |
Het |
Amer3 |
A |
G |
1: 34,627,074 (GRCm39) |
S438G |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,070,543 (GRCm39) |
|
probably null |
Het |
Art4 |
G |
T |
6: 136,831,848 (GRCm39) |
H98N |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,266,422 (GRCm39) |
S70P |
probably benign |
Het |
Ccdc61 |
A |
C |
7: 18,625,030 (GRCm39) |
Y503D |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,841,503 (GRCm39) |
N183I |
probably damaging |
Het |
Cd200r2 |
C |
T |
16: 44,729,537 (GRCm39) |
A64V |
probably damaging |
Het |
Ceacam9 |
A |
C |
7: 16,457,780 (GRCm39) |
K98Q |
probably benign |
Het |
Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
Cfap77 |
G |
T |
2: 28,845,625 (GRCm39) |
D247E |
probably benign |
Het |
Cftr |
T |
C |
6: 18,227,972 (GRCm39) |
M388T |
probably benign |
Het |
Chrnb1 |
G |
A |
11: 69,675,476 (GRCm39) |
H493Y |
probably damaging |
Het |
Ckap2 |
A |
C |
8: 22,667,402 (GRCm39) |
M153R |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,278,987 (GRCm39) |
V77A |
probably benign |
Het |
Col12a1 |
C |
T |
9: 79,562,689 (GRCm39) |
E1798K |
possibly damaging |
Het |
Cth |
T |
A |
3: 157,630,522 (GRCm39) |
D49V |
probably benign |
Het |
Ctnnb1 |
T |
C |
9: 120,784,482 (GRCm39) |
S425P |
probably damaging |
Het |
Ctnnd1 |
T |
C |
2: 84,441,129 (GRCm39) |
N690S |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,124,553 (GRCm39) |
L1096P |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,692,568 (GRCm39) |
D26G |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dnai3 |
T |
C |
3: 145,761,373 (GRCm39) |
D661G |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,502,707 (GRCm39) |
|
probably null |
Het |
Erh |
T |
C |
12: 80,687,757 (GRCm39) |
Y22C |
probably benign |
Het |
F5 |
C |
T |
1: 164,020,897 (GRCm39) |
T1124I |
possibly damaging |
Het |
Fam220a |
T |
A |
5: 143,549,226 (GRCm39) |
C213S |
possibly damaging |
Het |
Fat2 |
G |
T |
11: 55,201,258 (GRCm39) |
N605K |
probably damaging |
Het |
Ganab |
C |
A |
19: 8,891,933 (GRCm39) |
S780* |
probably null |
Het |
Gbgt1 |
C |
T |
2: 28,392,219 (GRCm39) |
P67S |
probably damaging |
Het |
Gm17190 |
G |
T |
13: 96,219,287 (GRCm39) |
G208* |
probably null |
Het |
Grhl2 |
A |
G |
15: 37,291,860 (GRCm39) |
Y316C |
probably damaging |
Het |
H2-T10 |
T |
C |
17: 36,431,741 (GRCm39) |
T38A |
probably benign |
Het |
Ins1 |
A |
G |
19: 52,252,858 (GRCm39) |
|
probably benign |
Het |
Ippk |
T |
C |
13: 49,585,943 (GRCm39) |
|
probably null |
Het |
Klc4 |
T |
A |
17: 46,950,836 (GRCm39) |
I258F |
probably benign |
Het |
Manba |
C |
A |
3: 135,248,154 (GRCm39) |
L348I |
probably benign |
Het |
Mgam |
A |
G |
6: 40,721,723 (GRCm39) |
N347S |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,871,758 (GRCm39) |
T2108A |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,358,494 (GRCm39) |
L914* |
probably null |
Het |
Nsa2 |
C |
T |
13: 97,267,728 (GRCm39) |
A242T |
probably benign |
Het |
Nsd2 |
G |
A |
5: 34,039,491 (GRCm39) |
W834* |
probably null |
Het |
Or10q3 |
T |
A |
19: 11,847,680 (GRCm39) |
D300V |
possibly damaging |
Het |
Or5p50 |
A |
T |
7: 107,422,129 (GRCm39) |
C182* |
probably null |
Het |
Or5w1 |
T |
C |
2: 87,486,740 (GRCm39) |
N175S |
possibly damaging |
Het |
Or8s16 |
T |
C |
15: 98,211,261 (GRCm39) |
M57V |
probably damaging |
Het |
Pam |
A |
T |
1: 97,769,972 (GRCm39) |
D599E |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,508,733 (GRCm39) |
K864R |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,912,477 (GRCm39) |
Y195* |
probably null |
Het |
Plcl2 |
A |
G |
17: 50,915,496 (GRCm39) |
D835G |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,073,356 (GRCm39) |
A329S |
probably damaging |
Het |
Prep |
T |
C |
10: 45,026,534 (GRCm39) |
V486A |
probably benign |
Het |
Prkcb |
A |
T |
7: 122,116,067 (GRCm39) |
N182I |
probably damaging |
Het |
Prkcz |
A |
G |
4: 155,356,059 (GRCm39) |
F355S |
probably damaging |
Het |
Psg20 |
C |
T |
7: 18,418,392 (GRCm39) |
S125N |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,382,883 (GRCm39) |
D234G |
probably benign |
Het |
Pvrig-ps |
A |
T |
5: 138,340,270 (GRCm39) |
M14L |
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,054,054 (GRCm39) |
|
probably null |
Het |
Rfc1 |
A |
T |
5: 65,432,769 (GRCm39) |
C764S |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,757,302 (GRCm39) |
D351G |
probably benign |
Het |
Scart1 |
T |
C |
7: 139,800,619 (GRCm39) |
|
probably null |
Het |
Serpinb9g |
T |
C |
13: 33,679,150 (GRCm39) |
F340S |
probably benign |
Het |
Sirpb1c |
C |
A |
3: 15,886,430 (GRCm39) |
L315F |
probably damaging |
Het |
Slc24a1 |
C |
G |
9: 64,835,686 (GRCm39) |
E814Q |
unknown |
Het |
Slc26a11 |
A |
T |
11: 119,265,328 (GRCm39) |
Q355L |
probably damaging |
Het |
Sp100 |
C |
T |
1: 85,634,960 (GRCm39) |
L483F |
possibly damaging |
Het |
Ston1 |
T |
A |
17: 88,943,329 (GRCm39) |
M245K |
probably benign |
Het |
Swap70 |
T |
A |
7: 109,873,979 (GRCm39) |
D442E |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,092,960 (GRCm39) |
V450D |
possibly damaging |
Het |
Tbck |
T |
A |
3: 132,458,324 (GRCm39) |
N651K |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,708,585 (GRCm39) |
T204S |
probably benign |
Het |
Tmem102 |
A |
G |
11: 69,695,711 (GRCm39) |
L87P |
probably damaging |
Het |
Tmprss11e |
T |
A |
5: 86,857,339 (GRCm39) |
T325S |
probably benign |
Het |
Trpm1 |
G |
A |
7: 63,890,330 (GRCm39) |
V978M |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
Wdr35 |
G |
A |
12: 9,055,773 (GRCm39) |
V482I |
probably benign |
Het |
Zer1 |
T |
C |
2: 29,991,496 (GRCm39) |
|
probably null |
Het |
Zfp503 |
T |
C |
14: 22,036,079 (GRCm39) |
D279G |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,102,736 (GRCm39) |
C198S |
possibly damaging |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Zfyve26 |
C |
T |
12: 79,334,581 (GRCm39) |
E146K |
probably benign |
Het |
Zkscan6 |
T |
C |
11: 65,719,357 (GRCm39) |
V459A |
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 |
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 |
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'- TCAACACAAGGCCAAGGGTC -3'
(R):5'- TGGAATCCAGATGGCAGTGC -3'
Sequencing Primer
(F):5'- AAGGGTCCCTGATCTTGCC -3'
(R):5'- CAGATGGCAGTGCTGGGG -3'
|
Posted On |
2019-10-07 |