Incidental Mutation 'R7452:Ephb3'
| ID |
605535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
045526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R7452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21036107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
[ENSMUST00000231316]
[ENSMUST00000232407]
|
| AlphaFold |
P54754 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006112
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
31 |
204 |
6.47e-126 |
SMART |
|
Pfam:GCC2_GCC3
|
269 |
312 |
5.8e-9 |
PFAM |
|
FN3
|
332 |
430 |
8.43e-9 |
SMART |
|
FN3
|
448 |
527 |
2.72e-12 |
SMART |
|
Pfam:EphA2_TM
|
555 |
625 |
1e-24 |
PFAM |
|
TyrKc
|
628 |
887 |
1.35e-134 |
SMART |
|
SAM
|
917 |
984 |
3.88e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232407
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,618,291 (GRCm39) |
Q195K |
probably damaging |
Het |
| Abcg4 |
C |
T |
9: 44,190,897 (GRCm39) |
G249R |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,230,376 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,674,869 (GRCm39) |
T432S |
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,506 (GRCm39) |
T347A |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,050,735 (GRCm39) |
D432G |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,734,881 (GRCm39) |
T797A |
possibly damaging |
Het |
| Aoc1 |
T |
G |
6: 48,885,724 (GRCm39) |
V743G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,833,892 (GRCm39) |
S858R |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,480,438 (GRCm39) |
V162G |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,140,814 (GRCm39) |
D588G |
possibly damaging |
Het |
| Art3 |
A |
G |
5: 92,540,539 (GRCm39) |
Y94C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,946,527 (GRCm39) |
D444E |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,282,075 (GRCm39) |
H111R |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,717,596 (GRCm39) |
L469P |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,406 (GRCm39) |
E802V |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,452,981 (GRCm39) |
D574G |
probably damaging |
Het |
| Chd7 |
A |
C |
4: 8,854,731 (GRCm39) |
D2024A |
probably benign |
Het |
| Corin |
T |
A |
5: 72,592,590 (GRCm39) |
D269V |
possibly damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,795 (GRCm39) |
I359F |
probably damaging |
Het |
| Defb6 |
T |
C |
8: 19,275,540 (GRCm39) |
L7P |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,196 (GRCm39) |
M1817L |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,866,664 (GRCm39) |
F682S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,065,052 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Enpp2 |
T |
C |
15: 54,730,132 (GRCm39) |
N462S |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,085,215 (GRCm39) |
H414Y |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,347,375 (GRCm39) |
H50R |
possibly damaging |
Het |
| Fig4 |
T |
C |
10: 41,116,633 (GRCm39) |
D586G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,181,331 (GRCm39) |
L2825P |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,800,240 (GRCm39) |
H30Q |
possibly damaging |
Het |
| Garre1 |
A |
G |
7: 33,945,096 (GRCm39) |
S595P |
probably benign |
Het |
| Gm12886 |
G |
A |
4: 121,274,671 (GRCm39) |
Q70* |
probably null |
Het |
| Gm8104 |
A |
C |
14: 42,967,501 (GRCm39) |
T190P |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,592 (GRCm39) |
N749K |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,808,926 (GRCm39) |
T1101A |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,423,074 (GRCm39) |
S210T |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,901,615 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
A |
G |
7: 80,410,577 (GRCm39) |
V212A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,243,607 (GRCm39) |
E448G |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,686 (GRCm39) |
C1221R |
probably damaging |
Het |
| Lrrc72 |
T |
C |
12: 36,262,692 (GRCm39) |
Y52C |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,030 (GRCm39) |
I3617T |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,379,705 (GRCm39) |
H98Q |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,384,733 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,517,056 (GRCm39) |
I458L |
probably benign |
Het |
| Nfam1 |
T |
A |
15: 82,899,163 (GRCm39) |
M128L |
probably benign |
Het |
| Or2y13 |
C |
A |
11: 49,415,208 (GRCm39) |
H219Q |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,266 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5p75-ps1 |
C |
T |
7: 108,107,800 (GRCm39) |
T179I |
unknown |
Het |
| Or8b50 |
A |
T |
9: 38,518,384 (GRCm39) |
I208F |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,023,466 (GRCm39) |
G7D |
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,966,758 (GRCm39) |
Y564H |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,058,467 (GRCm39) |
V262I |
probably benign |
Het |
| Poli |
A |
G |
18: 70,642,049 (GRCm39) |
V717A |
possibly damaging |
Het |
| Prdm14 |
A |
T |
1: 13,195,783 (GRCm39) |
W93R |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,428 (GRCm39) |
M396V |
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,248,587 (GRCm39) |
V212A |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skp2 |
T |
A |
15: 9,113,920 (GRCm39) |
Q366L |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,269,034 (GRCm39) |
S312T |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,142 (GRCm39) |
L255P |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,155,585 (GRCm39) |
E458G |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,797,461 (GRCm39) |
D311V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,630,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,731,792 (GRCm39) |
I47F |
|
Het |
| Trp53bp2 |
C |
T |
1: 182,274,133 (GRCm39) |
Q95* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,707,487 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,040,397 (GRCm39) |
S1626P |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,474,180 (GRCm39) |
R33G |
probably benign |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
|
| Other mutations in Ephb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ephb3
|
APN |
16 |
21,039,165 (GRCm39) |
splice site |
probably null |
|
|
IGL00966:Ephb3
|
APN |
16 |
21,036,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02166:Ephb3
|
APN |
16 |
21,039,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02245:Ephb3
|
APN |
16 |
21,040,174 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02321:Ephb3
|
APN |
16 |
21,033,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Ephb3
|
APN |
16 |
21,040,253 (GRCm39) |
splice site |
probably null |
|
|
IGL02507:Ephb3
|
APN |
16 |
21,039,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL02755:Ephb3
|
APN |
16 |
21,040,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02806:Ephb3
|
APN |
16 |
21,041,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4362001:Ephb3
|
UTSW |
16 |
21,039,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Ephb3
|
UTSW |
16 |
21,033,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Ephb3
|
UTSW |
16 |
21,036,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0196:Ephb3
|
UTSW |
16 |
21,036,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Ephb3
|
UTSW |
16 |
21,039,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Ephb3
|
UTSW |
16 |
21,037,784 (GRCm39) |
unclassified |
probably benign |
|
|
R1126:Ephb3
|
UTSW |
16 |
21,041,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1460:Ephb3
|
UTSW |
16 |
21,037,672 (GRCm39) |
missense |
probably benign |
|
|
R1592:Ephb3
|
UTSW |
16 |
21,040,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Ephb3
|
UTSW |
16 |
21,031,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Ephb3
|
UTSW |
16 |
21,040,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Ephb3
|
UTSW |
16 |
21,039,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Ephb3
|
UTSW |
16 |
21,035,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1928:Ephb3
|
UTSW |
16 |
21,041,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1956:Ephb3
|
UTSW |
16 |
21,040,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Ephb3
|
UTSW |
16 |
21,036,993 (GRCm39) |
missense |
probably benign |
|
|
R3408:Ephb3
|
UTSW |
16 |
21,038,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4027:Ephb3
|
UTSW |
16 |
21,040,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Ephb3
|
UTSW |
16 |
21,033,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Ephb3
|
UTSW |
16 |
21,040,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4828:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4960:Ephb3
|
UTSW |
16 |
21,039,245 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5057:Ephb3
|
UTSW |
16 |
21,039,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Ephb3
|
UTSW |
16 |
21,033,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Ephb3
|
UTSW |
16 |
21,037,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5540:Ephb3
|
UTSW |
16 |
21,039,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Ephb3
|
UTSW |
16 |
21,036,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Ephb3
|
UTSW |
16 |
21,041,241 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5838:Ephb3
|
UTSW |
16 |
21,040,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Ephb3
|
UTSW |
16 |
21,030,129 (GRCm39) |
intron |
probably benign |
|
|
R6017:Ephb3
|
UTSW |
16 |
21,040,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Ephb3
|
UTSW |
16 |
21,040,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6510:Ephb3
|
UTSW |
16 |
21,036,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6539:Ephb3
|
UTSW |
16 |
21,040,218 (GRCm39) |
missense |
probably benign |
|
|
R6591:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Ephb3
|
UTSW |
16 |
21,037,268 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7111:Ephb3
|
UTSW |
16 |
21,037,577 (GRCm39) |
nonsense |
probably null |
|
|
R7236:Ephb3
|
UTSW |
16 |
21,033,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Ephb3
|
UTSW |
16 |
21,040,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7410:Ephb3
|
UTSW |
16 |
21,040,158 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7413:Ephb3
|
UTSW |
16 |
21,033,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Ephb3
|
UTSW |
16 |
21,041,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9504:Ephb3
|
UTSW |
16 |
21,036,830 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9706:Ephb3
|
UTSW |
16 |
21,039,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ephb3
|
UTSW |
16 |
21,036,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGCCAGGTTCTCTCAG -3'
(R):5'- CTAGCAGCTAGAGAGAACTTGG -3'
Sequencing Primer
(F):5'- AGGGAGATAAATATGTGACATCCTC -3'
(R):5'- CTTGGTAGAATGCAGGCAGATG -3'
|
| Posted On |
2019-12-11 |
Incidental Mutation