Incidental Mutation 'R9722:Ephb2'
ID |
730838 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R9722 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136384768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 881
(D881G)
|
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: D882G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: D882G
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: D881G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: D881G
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: D882G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: D882G
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,094,269 (GRCm39) |
I52F |
probably benign |
Het |
Abcc3 |
A |
T |
11: 94,250,072 (GRCm39) |
L1017Q |
probably damaging |
Het |
Antxr2 |
T |
C |
5: 98,096,186 (GRCm39) |
D366G |
possibly damaging |
Het |
Astn2 |
C |
T |
4: 65,831,978 (GRCm39) |
V563I |
probably benign |
Het |
Atrn |
C |
A |
2: 130,803,536 (GRCm39) |
D575E |
probably damaging |
Het |
Baz1a |
C |
T |
12: 54,946,882 (GRCm39) |
D1228N |
probably benign |
Het |
Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
Ccnt2 |
T |
A |
1: 127,729,925 (GRCm39) |
D267E |
probably damaging |
Het |
Cd209c |
G |
T |
8: 3,995,905 (GRCm39) |
R2S |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,261,301 (GRCm39) |
Y2523C |
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,323,892 (GRCm39) |
P990L |
probably benign |
Het |
Dnajc9 |
T |
C |
14: 20,438,279 (GRCm39) |
I108V |
probably benign |
Het |
Eif2d |
T |
C |
1: 131,092,948 (GRCm39) |
|
probably null |
Het |
Esr1 |
A |
G |
10: 4,951,215 (GRCm39) |
N531S |
probably benign |
Het |
Fbxo2 |
G |
A |
4: 148,248,883 (GRCm39) |
R125H |
probably damaging |
Het |
Foxred1 |
C |
T |
9: 35,117,300 (GRCm39) |
S277N |
possibly damaging |
Het |
Gemin5 |
T |
C |
11: 58,041,418 (GRCm39) |
E518G |
probably damaging |
Het |
Gm17655 |
A |
G |
5: 110,194,226 (GRCm39) |
Y519H |
probably benign |
Het |
Igkv4-57-1 |
A |
T |
6: 69,521,493 (GRCm39) |
W70R |
probably damaging |
Het |
Krtap4-13 |
A |
G |
11: 99,700,180 (GRCm39) |
S160P |
unknown |
Het |
Map3k3 |
A |
G |
11: 106,033,361 (GRCm39) |
I205V |
possibly damaging |
Het |
Map3k4 |
A |
C |
17: 12,490,523 (GRCm39) |
F303V |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,304,504 (GRCm39) |
Q132R |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,801,227 (GRCm39) |
V1472E |
probably damaging |
Het |
Nckap1 |
G |
A |
2: 80,401,568 (GRCm39) |
Q39* |
probably null |
Het |
Nog |
A |
G |
11: 89,192,396 (GRCm39) |
S151P |
probably damaging |
Het |
Obox6 |
G |
A |
7: 15,568,831 (GRCm39) |
S15F |
probably benign |
Het |
Odf2 |
A |
G |
2: 29,813,594 (GRCm39) |
H647R |
possibly damaging |
Het |
Or6c74 |
A |
G |
10: 129,869,500 (GRCm39) |
R2G |
probably benign |
Het |
Pcdhga11 |
T |
C |
18: 37,890,398 (GRCm39) |
S469P |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pglyrp3 |
A |
G |
3: 91,938,695 (GRCm39) |
K290R |
possibly damaging |
Het |
Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,225,497 (GRCm39) |
L530R |
|
Het |
Pigg |
A |
T |
5: 108,495,767 (GRCm39) |
I935F |
possibly damaging |
Het |
Pofut2 |
T |
C |
10: 77,102,759 (GRCm39) |
S282P |
possibly damaging |
Het |
Ppfia1 |
A |
G |
7: 144,071,402 (GRCm39) |
S337P |
probably benign |
Het |
Sdr16c5 |
A |
T |
4: 4,005,595 (GRCm39) |
D246E |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,428,207 (GRCm39) |
H327L |
possibly damaging |
Het |
Slc39a4 |
A |
G |
15: 76,500,211 (GRCm39) |
I113T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,603,985 (GRCm39) |
|
probably null |
Het |
Snx11 |
A |
G |
11: 96,661,925 (GRCm39) |
S86P |
probably benign |
Het |
Srm |
T |
A |
4: 148,676,245 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
C |
6: 42,412,082 (GRCm39) |
I205T |
possibly damaging |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,753,849 (GRCm39) |
S851R |
probably benign |
Het |
Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,733,476 (GRCm39) |
|
probably null |
Het |
Trim33 |
C |
A |
3: 103,261,146 (GRCm39) |
T1115K |
possibly damaging |
Het |
Tspan13 |
T |
A |
12: 36,074,017 (GRCm39) |
I40F |
probably damaging |
Het |
Ube2v2 |
T |
C |
16: 15,394,899 (GRCm39) |
I91V |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,631 (GRCm39) |
F115L |
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,598,407 (GRCm39) |
P717S |
probably damaging |
Het |
Zan |
T |
C |
5: 137,387,324 (GRCm39) |
T4910A |
unknown |
Het |
Zfp599 |
T |
A |
9: 22,160,741 (GRCm39) |
T475S |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,923,301 (GRCm39) |
F700I |
probably damaging |
Het |
Zfp985 |
A |
C |
4: 147,667,618 (GRCm39) |
K162T |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATCCCAGACTGCCATTG -3'
(R):5'- GTGCTCCAGAGATGAATATGCTC -3'
Sequencing Primer
(F):5'- ATTGGGCGGGTCCAGGATG -3'
(R):5'- CTCCAGAGATGAATATGCTCAGCAG -3'
|
Posted On |
2022-10-06 |