Incidental Mutation 'R5307:Ephb2'
ID |
404625 |
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 |
042890-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R5307 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 136421098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 417
(Q417H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059287
AA Change: Q417H
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: Q417H
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 |
possibly damaging
Transcript: ENSMUST00000105845
AA Change: Q417H
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: Q417H
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 |
possibly damaging
Transcript: ENSMUST00000105846
AA Change: Q417H
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: Q417H
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: Q84H
|
SMART Domains |
Protein: ENSMUSP00000116350 Gene: ENSMUSG00000028664 AA Change: Q84H
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,559,383 (GRCm39) |
T264A |
probably benign |
Het |
Arhgef17 |
C |
G |
7: 100,578,635 (GRCm39) |
G771A |
probably benign |
Het |
Atg2b |
T |
A |
12: 105,624,588 (GRCm39) |
D637V |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,103,302 (GRCm39) |
E562G |
probably damaging |
Het |
Atp1a1 |
A |
G |
3: 101,497,280 (GRCm39) |
V342A |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,599,810 (GRCm39) |
I527T |
probably benign |
Het |
Atr |
T |
A |
9: 95,760,597 (GRCm39) |
N1022K |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,562,683 (GRCm39) |
D383E |
probably benign |
Het |
Casq1 |
A |
T |
1: 172,046,983 (GRCm39) |
L92Q |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,952,832 (GRCm39) |
Y371N |
probably damaging |
Het |
Chd9 |
G |
A |
8: 91,723,777 (GRCm39) |
A617T |
probably damaging |
Het |
Cntrob |
T |
A |
11: 69,205,576 (GRCm39) |
R419S |
possibly damaging |
Het |
Corin |
C |
A |
5: 72,514,321 (GRCm39) |
G318C |
probably damaging |
Het |
Cpa3 |
A |
G |
3: 20,281,327 (GRCm39) |
|
probably null |
Het |
Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,879,710 (GRCm39) |
S493G |
probably benign |
Het |
Ddc |
A |
G |
11: 11,826,321 (GRCm39) |
F80S |
probably damaging |
Het |
Dhrs2 |
A |
G |
14: 55,473,601 (GRCm39) |
S87G |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,414,641 (GRCm39) |
E14G |
possibly damaging |
Het |
Dtd1 |
A |
G |
2: 144,588,942 (GRCm39) |
E200G |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,155,099 (GRCm39) |
E895G |
probably damaging |
Het |
Ehhadh |
A |
C |
16: 21,581,442 (GRCm39) |
S517A |
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,361,574 (GRCm39) |
T526A |
probably damaging |
Het |
Fam222b |
G |
A |
11: 78,044,594 (GRCm39) |
V52I |
probably damaging |
Het |
Galm |
G |
A |
17: 80,452,416 (GRCm39) |
W118* |
probably null |
Het |
Galm |
G |
T |
17: 80,452,417 (GRCm39) |
W118C |
probably damaging |
Het |
Gcfc2 |
A |
G |
6: 81,921,367 (GRCm39) |
N458D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gykl1 |
A |
C |
18: 52,827,723 (GRCm39) |
R310S |
possibly damaging |
Het |
Gzmn |
A |
C |
14: 56,405,403 (GRCm39) |
V27G |
probably damaging |
Het |
H2-T23 |
T |
A |
17: 36,343,108 (GRCm39) |
M90L |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,164,877 (GRCm39) |
E87G |
unknown |
Het |
Hps3 |
G |
A |
3: 20,066,865 (GRCm39) |
S567L |
possibly damaging |
Het |
Igfn1 |
A |
T |
1: 135,892,676 (GRCm39) |
V2148E |
probably damaging |
Het |
Ighv1-75 |
T |
C |
12: 115,797,572 (GRCm39) |
R117G |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,036,464 (GRCm39) |
A1134V |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,281,098 (GRCm39) |
A1294T |
possibly damaging |
Het |
Leng8 |
C |
T |
7: 4,148,472 (GRCm39) |
T748I |
probably damaging |
Het |
Lrig3 |
G |
C |
10: 125,842,559 (GRCm39) |
D495H |
probably damaging |
Het |
Mctp1 |
G |
A |
13: 76,860,198 (GRCm39) |
|
probably null |
Het |
Mfsd3 |
T |
A |
15: 76,586,371 (GRCm39) |
L168* |
probably null |
Het |
Nherf1 |
T |
A |
11: 115,054,587 (GRCm39) |
I79N |
probably damaging |
Het |
Nlrp4d |
C |
A |
7: 10,096,709 (GRCm39) |
G921* |
probably null |
Het |
Nsun4 |
G |
A |
4: 115,891,335 (GRCm39) |
T348I |
probably damaging |
Het |
Nucb1 |
T |
C |
7: 45,147,842 (GRCm39) |
T246A |
probably damaging |
Het |
Nynrin |
A |
C |
14: 56,101,263 (GRCm39) |
S311R |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,741 (GRCm39) |
|
probably null |
Het |
Or5ar1 |
T |
G |
2: 85,671,358 (GRCm39) |
Y259S |
probably damaging |
Het |
Ovch2 |
C |
A |
7: 107,391,341 (GRCm39) |
R303L |
probably benign |
Het |
Pcsk9 |
A |
G |
4: 106,304,371 (GRCm39) |
S490P |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,140,894 (GRCm39) |
F859L |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,367,424 (GRCm39) |
D1207G |
probably damaging |
Het |
Pnpla7 |
G |
A |
2: 24,911,964 (GRCm39) |
R710Q |
possibly damaging |
Het |
Prex2 |
T |
G |
1: 11,270,256 (GRCm39) |
S1314A |
probably damaging |
Het |
Rnf216 |
A |
G |
5: 143,078,757 (GRCm39) |
L64P |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc6a20b |
T |
G |
9: 123,432,899 (GRCm39) |
S374R |
possibly damaging |
Het |
Slc8a1 |
G |
T |
17: 81,956,653 (GRCm39) |
N128K |
probably damaging |
Het |
Slfn5 |
A |
T |
11: 82,847,211 (GRCm39) |
D32V |
probably damaging |
Het |
Snrnp35 |
T |
C |
5: 124,628,553 (GRCm39) |
I122T |
possibly damaging |
Het |
Snx24 |
C |
T |
18: 53,473,283 (GRCm39) |
Q76* |
probably null |
Het |
Sspo |
T |
A |
6: 48,431,784 (GRCm39) |
H692Q |
probably damaging |
Het |
Stxbp3 |
T |
C |
3: 108,701,114 (GRCm39) |
D585G |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,072,677 (GRCm39) |
N2211D |
possibly damaging |
Het |
Tnfrsf18 |
G |
A |
4: 156,112,881 (GRCm39) |
|
probably null |
Het |
Tnik |
T |
G |
3: 28,596,121 (GRCm39) |
D171E |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,533,745 (GRCm39) |
H266L |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,725,114 (GRCm39) |
S2037* |
probably null |
Het |
Tuba3a |
G |
A |
6: 125,258,273 (GRCm39) |
T239I |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,890,594 (GRCm39) |
D767E |
probably benign |
Het |
Whrn |
G |
T |
4: 63,350,080 (GRCm39) |
H546N |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,341,506 (GRCm39) |
T1249I |
probably damaging |
Het |
Zbtb1 |
T |
A |
12: 76,433,014 (GRCm39) |
D333E |
probably damaging |
Het |
Zfp689 |
T |
G |
7: 127,047,987 (GRCm39) |
E15A |
possibly damaging |
Het |
Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
probably benign |
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 |
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 |
R9722:Ephb2
|
UTSW |
4 |
136,384,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAAATACTACTACTGAGCCC -3'
(R):5'- TCATCTGCAAGAGCTGTGGC -3'
Sequencing Primer
(F):5'- GGCTGCCCTCAAATTCACG -3'
(R):5'- TACATCAGTGACCTGCTG -3'
|
Posted On |
2016-07-22 |