Incidental Mutation 'R4027:Ephb3'
ID |
313063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
040850-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R4027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21040447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 561
(D561G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
|
AlphaFold |
P54754 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: D815G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: D815G
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 |
noncoding transcript
Transcript: ENSMUST00000159575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160053
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161063
AA Change: D561G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9626 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (60/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
G |
2: 35,270,408 (GRCm39) |
F98L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,973,409 (GRCm39) |
N531S |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,791,476 (GRCm39) |
S906P |
possibly damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Ano10 |
A |
G |
9: 122,081,994 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,424,377 (GRCm39) |
|
probably null |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Carmil1 |
T |
A |
13: 24,251,206 (GRCm39) |
|
probably benign |
Het |
Ccl2 |
A |
G |
11: 81,927,885 (GRCm39) |
R110G |
probably benign |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cog6 |
A |
C |
3: 52,909,950 (GRCm39) |
D267E |
possibly damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,850,646 (GRCm39) |
E366D |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,920,892 (GRCm39) |
V24A |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,353,232 (GRCm39) |
I48V |
probably benign |
Het |
Elmo2 |
G |
A |
2: 165,136,169 (GRCm39) |
Q195* |
probably null |
Het |
Erich2 |
C |
A |
2: 70,343,134 (GRCm39) |
|
probably benign |
Het |
Gatm |
A |
G |
2: 122,427,927 (GRCm39) |
V362A |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,572 (GRCm39) |
M360V |
probably damaging |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,849,219 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
G |
3: 87,716,906 (GRCm39) |
E682G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,740,438 (GRCm39) |
I742V |
possibly damaging |
Het |
Kcnh1 |
T |
C |
1: 191,959,007 (GRCm39) |
V187A |
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,297,094 (GRCm39) |
S419R |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,747,990 (GRCm39) |
|
probably benign |
Het |
Krt10 |
A |
G |
11: 99,277,019 (GRCm39) |
|
probably benign |
Het |
Lct |
G |
A |
1: 128,212,918 (GRCm39) |
R1912C |
probably benign |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,240,552 (GRCm39) |
L279P |
probably damaging |
Het |
Mfsd4b3-ps |
T |
C |
10: 39,823,343 (GRCm39) |
T306A |
probably benign |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,758 (GRCm39) |
F101I |
probably damaging |
Het |
Mlc1 |
T |
C |
15: 88,850,697 (GRCm39) |
I154V |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,892,311 (GRCm39) |
I1685T |
possibly damaging |
Het |
Nacc2 |
T |
A |
2: 25,950,348 (GRCm39) |
M463L |
probably benign |
Het |
Nek11 |
A |
C |
9: 105,121,589 (GRCm39) |
Y443* |
probably null |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nova1 |
A |
G |
12: 46,863,801 (GRCm39) |
|
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,125,354 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,512,709 (GRCm39) |
S3P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,666 (GRCm39) |
D400G |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Prmt6 |
A |
G |
3: 110,157,257 (GRCm39) |
I344T |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Ranbp17 |
C |
T |
11: 33,450,718 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,143,077 (GRCm39) |
A735S |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,713 (GRCm39) |
T237A |
probably benign |
Het |
Vmn1r74 |
C |
A |
7: 11,580,898 (GRCm39) |
T66K |
probably damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,943,672 (GRCm39) |
V239I |
probably benign |
Het |
Zmym5 |
T |
A |
14: 57,035,268 (GRCm39) |
T267S |
probably benign |
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 |
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 |
R7452:Ephb3
|
UTSW |
16 |
21,036,107 (GRCm39) |
splice site |
probably null |
|
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'- TGGTACAGGAAGCCTCTGAG -3'
(R):5'- GGTAACCGATAGTCTTGCTCTACAG -3'
Sequencing Primer
(F):5'- TACAGGAAGCCTCTGAGGGATTTG -3'
(R):5'- GCTCTACAGCATTAATGACCTGG -3'
|
Posted On |
2015-04-30 |