Incidental Mutation 'R7466:Ephb2'
ID |
578757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb2
|
Ensembl Gene |
ENSMUSG00000028664 |
Gene Name |
Eph receptor B2 |
Synonyms |
Erk, eteck, Tyro5, Prkm5, Drt, Hek5, Sek3, Qek5, Cek5, Nuk |
MMRRC Submission |
045540-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.701)
|
Stock # |
R7466 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136647539-136835988 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 136659065 bp (GRCm38)
|
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: 35,088,741 (GRCm38) |
K203* |
probably null |
Het |
Akr1c13 |
T |
C |
13: 4,192,437 (GRCm38) |
|
probably benign |
Het |
Amer3 |
A |
G |
1: 34,587,993 (GRCm38) |
S438G |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,163,261 (GRCm38) |
|
probably null |
Het |
Art4 |
G |
T |
6: 136,854,850 (GRCm38) |
H98N |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,447,604 (GRCm38) |
S70P |
probably benign |
Het |
Ccdc61 |
A |
C |
7: 18,891,105 (GRCm38) |
Y503D |
probably damaging |
Het |
Cd163l1 |
T |
C |
7: 140,220,706 (GRCm38) |
|
probably null |
Het |
Cd180 |
A |
T |
13: 102,704,995 (GRCm38) |
N183I |
probably damaging |
Het |
Cd200r2 |
C |
T |
16: 44,909,174 (GRCm38) |
A64V |
probably damaging |
Het |
Ceacam9 |
A |
C |
7: 16,723,855 (GRCm38) |
K98Q |
probably benign |
Het |
Cep44 |
AACGC |
A |
8: 56,540,983 (GRCm38) |
|
probably null |
Het |
Cfap77 |
G |
T |
2: 28,955,613 (GRCm38) |
D247E |
probably benign |
Het |
Cftr |
T |
C |
6: 18,227,973 (GRCm38) |
M388T |
probably benign |
Het |
Chrnb1 |
G |
A |
11: 69,784,650 (GRCm38) |
H493Y |
probably damaging |
Het |
Ckap2 |
A |
C |
8: 22,177,386 (GRCm38) |
M153R |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,131,128 (GRCm38) |
V77A |
probably benign |
Het |
Col12a1 |
C |
T |
9: 79,655,407 (GRCm38) |
E1798K |
possibly damaging |
Het |
Cth |
T |
A |
3: 157,924,885 (GRCm38) |
D49V |
probably benign |
Het |
Ctnnb1 |
T |
C |
9: 120,955,416 (GRCm38) |
S425P |
probably damaging |
Het |
Ctnnd1 |
T |
C |
2: 84,610,785 (GRCm38) |
N690S |
probably benign |
Het |
Cyhr1 |
C |
T |
15: 76,648,186 (GRCm38) |
D241N |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,774,331 (GRCm38) |
D26G |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,245,212 (GRCm38) |
P80L |
probably damaging |
Het |
Eef2k |
A |
G |
7: 120,903,484 (GRCm38) |
|
probably null |
Het |
Erh |
T |
C |
12: 80,640,983 (GRCm38) |
Y22C |
probably benign |
Het |
F5 |
C |
T |
1: 164,193,328 (GRCm38) |
T1124I |
possibly damaging |
Het |
Fam220a |
T |
A |
5: 143,563,471 (GRCm38) |
C213S |
possibly damaging |
Het |
Fat2 |
G |
T |
11: 55,310,432 (GRCm38) |
N605K |
probably damaging |
Het |
Ganab |
C |
A |
19: 8,914,569 (GRCm38) |
S780* |
probably null |
Het |
Gbgt1 |
C |
T |
2: 28,502,207 (GRCm38) |
P67S |
probably damaging |
Het |
Gm17190 |
G |
T |
13: 96,082,779 (GRCm38) |
G208* |
probably null |
Het |
Grhl2 |
A |
G |
15: 37,291,616 (GRCm38) |
Y316C |
probably damaging |
Het |
H2-T10 |
T |
C |
17: 36,120,849 (GRCm38) |
T38A |
probably benign |
Het |
Ins1 |
A |
G |
19: 52,264,420 (GRCm38) |
|
probably benign |
Het |
Ippk |
T |
C |
13: 49,432,467 (GRCm38) |
|
probably null |
Het |
Klc4 |
T |
A |
17: 46,639,910 (GRCm38) |
I258F |
probably benign |
Het |
Manba |
C |
A |
3: 135,542,393 (GRCm38) |
L348I |
probably benign |
Het |
Mgam |
A |
G |
6: 40,744,789 (GRCm38) |
N347S |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,723,892 (GRCm38) |
T2108A |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,221,986 (GRCm38) |
L914* |
probably null |
Het |
Nsa2 |
C |
T |
13: 97,131,220 (GRCm38) |
A242T |
probably benign |
Het |
Nsd2 |
G |
A |
5: 33,882,147 (GRCm38) |
W834* |
probably null |
Het |
Olfr1134 |
T |
C |
2: 87,656,396 (GRCm38) |
N175S |
possibly damaging |
Het |
Olfr1419 |
T |
A |
19: 11,870,316 (GRCm38) |
D300V |
possibly damaging |
Het |
Olfr285 |
T |
C |
15: 98,313,380 (GRCm38) |
M57V |
probably damaging |
Het |
Olfr469 |
A |
T |
7: 107,822,922 (GRCm38) |
C182* |
probably null |
Het |
Pam |
A |
T |
1: 97,842,247 (GRCm38) |
D599E |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,636,884 (GRCm38) |
K864R |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,608,468 (GRCm38) |
D835G |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,196,157 (GRCm38) |
A329S |
probably damaging |
Het |
Prep |
T |
C |
10: 45,150,438 (GRCm38) |
V486A |
probably benign |
Het |
Prkcb |
A |
T |
7: 122,516,844 (GRCm38) |
N182I |
probably damaging |
Het |
Prkcz |
A |
G |
4: 155,271,602 (GRCm38) |
F355S |
probably damaging |
Het |
Psg20 |
C |
T |
7: 18,684,467 (GRCm38) |
S125N |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,492,057 (GRCm38) |
D234G |
probably benign |
Het |
Pvrig |
A |
T |
5: 138,342,008 (GRCm38) |
M14L |
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,226,484 (GRCm38) |
|
probably null |
Het |
Rfc1 |
A |
T |
5: 65,275,426 (GRCm38) |
C764S |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,926,957 (GRCm38) |
D351G |
probably benign |
Het |
Serpinb9g |
T |
C |
13: 33,495,167 (GRCm38) |
F340S |
probably benign |
Het |
Sirpb1c |
C |
A |
3: 15,832,266 (GRCm38) |
L315F |
probably damaging |
Het |
Slc24a1 |
C |
G |
9: 64,928,404 (GRCm38) |
E814Q |
unknown |
Het |
Slc26a11 |
A |
T |
11: 119,374,502 (GRCm38) |
Q355L |
probably damaging |
Het |
Sp100 |
C |
T |
1: 85,707,239 (GRCm38) |
L483F |
possibly damaging |
Het |
St5 |
A |
G |
7: 109,525,346 (GRCm38) |
L1096P |
probably damaging |
Het |
Ston1 |
T |
A |
17: 88,635,901 (GRCm38) |
M245K |
probably benign |
Het |
Swap70 |
T |
A |
7: 110,274,772 (GRCm38) |
D442E |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,046,186 (GRCm38) |
V450D |
possibly damaging |
Het |
Tbck |
T |
A |
3: 132,752,563 (GRCm38) |
N651K |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,817,758 (GRCm38) |
T204S |
probably benign |
Het |
Tmem102 |
A |
G |
11: 69,804,885 (GRCm38) |
L87P |
probably damaging |
Het |
Tmem55a |
T |
A |
4: 14,912,477 (GRCm38) |
Y195* |
probably null |
Het |
Tmprss11e |
T |
A |
5: 86,709,480 (GRCm38) |
T325S |
probably benign |
Het |
Trpm1 |
G |
A |
7: 64,240,582 (GRCm38) |
V978M |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,094,511 (GRCm38) |
D19E |
probably benign |
Het |
Wdr35 |
G |
A |
12: 9,005,773 (GRCm38) |
V482I |
probably benign |
Het |
Wdr63 |
T |
C |
3: 146,055,618 (GRCm38) |
D661G |
probably benign |
Het |
Zer1 |
T |
C |
2: 30,101,484 (GRCm38) |
|
probably null |
Het |
Zfp503 |
T |
C |
14: 21,986,011 (GRCm38) |
D279G |
probably benign |
Het |
Zfp870 |
A |
T |
17: 32,883,762 (GRCm38) |
C198S |
possibly damaging |
Het |
Zfyve26 |
C |
T |
12: 79,287,807 (GRCm38) |
E146K |
probably benign |
Het |
Zkscan6 |
T |
C |
11: 65,828,531 (GRCm38) |
V459A |
probably damaging |
Het |
|
Other mutations in Ephb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ephb2
|
APN |
4 |
136,657,484 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL00963:Ephb2
|
APN |
4 |
136,658,951 (GRCm38) |
missense |
probably benign |
0.04 |
IGL01111:Ephb2
|
APN |
4 |
136,657,410 (GRCm38) |
missense |
probably benign |
0.01 |
IGL01462:Ephb2
|
APN |
4 |
136,771,370 (GRCm38) |
missense |
possibly damaging |
0.61 |
IGL01863:Ephb2
|
APN |
4 |
136,659,777 (GRCm38) |
missense |
probably benign |
0.03 |
IGL02149:Ephb2
|
APN |
4 |
136,693,914 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02232:Ephb2
|
APN |
4 |
136,657,451 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL02269:Ephb2
|
APN |
4 |
136,771,049 (GRCm38) |
missense |
possibly damaging |
0.66 |
IGL02828:Ephb2
|
APN |
4 |
136,771,150 (GRCm38) |
missense |
probably benign |
0.09 |
IGL03109:Ephb2
|
APN |
4 |
136,771,544 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03284:Ephb2
|
APN |
4 |
136,661,516 (GRCm38) |
missense |
probably damaging |
0.96 |
Zimbalist
|
UTSW |
4 |
136,659,709 (GRCm38) |
missense |
probably damaging |
1.00 |
BB006:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
BB016:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4453001:Ephb2
|
UTSW |
4 |
136,660,810 (GRCm38) |
missense |
probably benign |
0.00 |
R0004:Ephb2
|
UTSW |
4 |
136,657,524 (GRCm38) |
missense |
probably damaging |
1.00 |
R0121:Ephb2
|
UTSW |
4 |
136,771,057 (GRCm38) |
missense |
probably damaging |
0.99 |
R0539:Ephb2
|
UTSW |
4 |
136,655,976 (GRCm38) |
missense |
probably damaging |
1.00 |
R0614:Ephb2
|
UTSW |
4 |
136,673,365 (GRCm38) |
missense |
probably benign |
0.00 |
R0988:Ephb2
|
UTSW |
4 |
136,659,708 (GRCm38) |
missense |
possibly damaging |
0.59 |
R1471:Ephb2
|
UTSW |
4 |
136,658,951 (GRCm38) |
missense |
probably benign |
0.04 |
R1473:Ephb2
|
UTSW |
4 |
136,694,058 (GRCm38) |
missense |
possibly damaging |
0.83 |
R1546:Ephb2
|
UTSW |
4 |
136,771,009 (GRCm38) |
missense |
probably damaging |
0.99 |
R1639:Ephb2
|
UTSW |
4 |
136,693,905 (GRCm38) |
missense |
probably benign |
0.10 |
R1725:Ephb2
|
UTSW |
4 |
136,659,778 (GRCm38) |
nonsense |
probably null |
|
R1779:Ephb2
|
UTSW |
4 |
136,693,825 (GRCm38) |
missense |
possibly damaging |
0.64 |
R1818:Ephb2
|
UTSW |
4 |
136,655,336 (GRCm38) |
missense |
probably benign |
0.02 |
R2099:Ephb2
|
UTSW |
4 |
136,660,755 (GRCm38) |
missense |
probably damaging |
1.00 |
R2916:Ephb2
|
UTSW |
4 |
136,683,945 (GRCm38) |
missense |
probably damaging |
0.99 |
R3885:Ephb2
|
UTSW |
4 |
136,771,034 (GRCm38) |
missense |
probably damaging |
1.00 |
R4572:Ephb2
|
UTSW |
4 |
136,655,940 (GRCm38) |
missense |
probably damaging |
1.00 |
R4709:Ephb2
|
UTSW |
4 |
136,696,052 (GRCm38) |
missense |
probably damaging |
1.00 |
R4893:Ephb2
|
UTSW |
4 |
136,659,753 (GRCm38) |
missense |
probably damaging |
0.99 |
R4981:Ephb2
|
UTSW |
4 |
136,696,010 (GRCm38) |
missense |
probably benign |
0.09 |
R4992:Ephb2
|
UTSW |
4 |
136,660,839 (GRCm38) |
missense |
probably damaging |
1.00 |
R5004:Ephb2
|
UTSW |
4 |
136,659,699 (GRCm38) |
missense |
possibly damaging |
0.77 |
R5307:Ephb2
|
UTSW |
4 |
136,693,787 (GRCm38) |
missense |
possibly damaging |
0.89 |
R5370:Ephb2
|
UTSW |
4 |
136,771,570 (GRCm38) |
missense |
probably benign |
0.00 |
R5561:Ephb2
|
UTSW |
4 |
136,661,406 (GRCm38) |
missense |
probably damaging |
1.00 |
R5643:Ephb2
|
UTSW |
4 |
136,771,612 (GRCm38) |
missense |
probably damaging |
0.99 |
R5826:Ephb2
|
UTSW |
4 |
136,660,737 (GRCm38) |
missense |
probably damaging |
1.00 |
R5858:Ephb2
|
UTSW |
4 |
136,672,445 (GRCm38) |
missense |
probably benign |
|
R5867:Ephb2
|
UTSW |
4 |
136,675,422 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5990:Ephb2
|
UTSW |
4 |
136,696,055 (GRCm38) |
missense |
probably benign |
0.03 |
R6000:Ephb2
|
UTSW |
4 |
136,684,030 (GRCm38) |
missense |
possibly damaging |
0.76 |
R6156:Ephb2
|
UTSW |
4 |
136,661,505 (GRCm38) |
missense |
probably benign |
0.44 |
R6413:Ephb2
|
UTSW |
4 |
136,771,122 (GRCm38) |
missense |
probably benign |
0.08 |
R6577:Ephb2
|
UTSW |
4 |
136,657,550 (GRCm38) |
missense |
probably damaging |
0.99 |
R6633:Ephb2
|
UTSW |
4 |
136,683,996 (GRCm38) |
missense |
probably benign |
0.07 |
R6720:Ephb2
|
UTSW |
4 |
136,657,502 (GRCm38) |
missense |
probably damaging |
0.99 |
R6795:Ephb2
|
UTSW |
4 |
136,673,335 (GRCm38) |
missense |
possibly damaging |
0.88 |
R7235:Ephb2
|
UTSW |
4 |
136,693,828 (GRCm38) |
missense |
probably damaging |
1.00 |
R7260:Ephb2
|
UTSW |
4 |
136,771,574 (GRCm38) |
missense |
probably damaging |
0.96 |
R7328:Ephb2
|
UTSW |
4 |
136,658,934 (GRCm38) |
critical splice donor site |
probably null |
|
R7404:Ephb2
|
UTSW |
4 |
136,771,213 (GRCm38) |
missense |
probably damaging |
1.00 |
R7524:Ephb2
|
UTSW |
4 |
136,659,709 (GRCm38) |
missense |
probably damaging |
1.00 |
R7605:Ephb2
|
UTSW |
4 |
136,771,108 (GRCm38) |
missense |
probably damaging |
1.00 |
R7611:Ephb2
|
UTSW |
4 |
136,660,901 (GRCm38) |
critical splice acceptor site |
probably null |
|
R7777:Ephb2
|
UTSW |
4 |
136,771,636 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7889:Ephb2
|
UTSW |
4 |
136,771,042 (GRCm38) |
missense |
probably damaging |
0.99 |
R7929:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
R8191:Ephb2
|
UTSW |
4 |
136,658,945 (GRCm38) |
missense |
probably damaging |
0.96 |
R8370:Ephb2
|
UTSW |
4 |
136,655,991 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8444:Ephb2
|
UTSW |
4 |
136,661,400 (GRCm38) |
missense |
probably damaging |
1.00 |
R8724:Ephb2
|
UTSW |
4 |
136,771,057 (GRCm38) |
missense |
probably damaging |
0.99 |
R8988:Ephb2
|
UTSW |
4 |
136,675,458 (GRCm38) |
missense |
probably benign |
0.42 |
R9410:Ephb2
|
UTSW |
4 |
136,659,637 (GRCm38) |
missense |
probably null |
1.00 |
R9722:Ephb2
|
UTSW |
4 |
136,657,457 (GRCm38) |
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 |