Incidental Mutation 'R7307:Ephb3'
ID |
567348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb3
|
Ensembl Gene |
ENSMUSG00000005958 |
Gene Name |
Eph receptor B3 |
Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
MMRRC Submission |
045366-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.927)
|
Stock # |
R7307 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 21040976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 932
(I932S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
|
AlphaFold |
P54754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006112
AA Change: I932S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000006112 Gene: ENSMUSG00000005958 AA Change: I932S
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 benign
Transcript: ENSMUST00000161063
AA Change: I678S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
2610318N02Rik |
G |
A |
16: 16,936,259 (GRCm39) |
P155L |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,217,899 (GRCm39) |
L285F |
probably damaging |
Het |
Ankrd6 |
A |
T |
4: 32,816,949 (GRCm39) |
Y393N |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,865,016 (GRCm39) |
Q993R |
probably benign |
Het |
Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
B4galnt3 |
T |
C |
6: 120,192,392 (GRCm39) |
D448G |
probably benign |
Het |
Capn1 |
C |
G |
19: 6,043,938 (GRCm39) |
E564D |
possibly damaging |
Het |
Ccdc85a |
A |
G |
11: 28,349,384 (GRCm39) |
S474P |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,140,626 (GRCm39) |
L1289* |
probably null |
Het |
Cramp1 |
A |
T |
17: 25,193,719 (GRCm39) |
N920K |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,345,143 (GRCm39) |
S2091N |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,273,960 (GRCm39) |
I581N |
probably damaging |
Het |
Dnm2 |
A |
T |
9: 21,396,983 (GRCm39) |
N487Y |
probably damaging |
Het |
Enc1 |
A |
C |
13: 97,381,601 (GRCm39) |
N37T |
probably damaging |
Het |
Frk |
T |
A |
10: 34,467,934 (GRCm39) |
M316K |
probably damaging |
Het |
Gdap2 |
C |
T |
3: 100,109,349 (GRCm39) |
R25C |
unknown |
Het |
Gpat2 |
T |
A |
2: 127,276,810 (GRCm39) |
D671E |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,229,672 (GRCm39) |
E828K |
probably benign |
Het |
Greb1l |
T |
C |
18: 10,538,142 (GRCm39) |
Y1052H |
probably damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,314,833 (GRCm39) |
S69N |
probably damaging |
Het |
Hid1 |
A |
C |
11: 115,239,308 (GRCm39) |
I785S |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,233,093 (GRCm39) |
I214T |
probably damaging |
Het |
Hsd3b5 |
G |
T |
3: 98,527,085 (GRCm39) |
F120L |
probably damaging |
Het |
Kif16b |
C |
T |
2: 142,554,851 (GRCm39) |
R649Q |
probably benign |
Het |
Kif17 |
A |
T |
4: 137,989,954 (GRCm39) |
E47D |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,279,896 (GRCm39) |
H1368R |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,747,299 (GRCm39) |
S3342T |
unknown |
Het |
Krt82 |
A |
G |
15: 101,451,342 (GRCm39) |
C356R |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,794,156 (GRCm39) |
K407E |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,584,640 (GRCm39) |
H325Q |
possibly damaging |
Het |
Mccc2 |
T |
G |
13: 100,125,108 (GRCm39) |
D187A |
possibly damaging |
Het |
Mgll |
T |
A |
6: 88,791,103 (GRCm39) |
|
probably null |
Het |
Mindy2 |
T |
G |
9: 70,518,241 (GRCm39) |
E449A |
possibly damaging |
Het |
Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
Nlrp4e |
A |
G |
7: 23,020,953 (GRCm39) |
E480G |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
Or13a26 |
G |
A |
7: 140,285,060 (GRCm39) |
V299I |
probably benign |
Het |
Or1j4 |
G |
A |
2: 36,740,137 (GRCm39) |
M26I |
probably benign |
Het |
Or4g7 |
A |
T |
2: 111,309,105 (GRCm39) |
|
probably benign |
Het |
Or52a20 |
G |
T |
7: 103,366,173 (GRCm39) |
R124L |
probably damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,531 (GRCm39) |
H484L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,605,344 (GRCm39) |
T604A |
possibly damaging |
Het |
Pitpnm3 |
G |
T |
11: 71,961,790 (GRCm39) |
A275D |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,638,118 (GRCm39) |
|
probably null |
Het |
Polr3a |
A |
G |
14: 24,510,055 (GRCm39) |
C960R |
probably benign |
Het |
Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
Pramel11 |
A |
C |
4: 143,623,345 (GRCm39) |
Y276* |
probably null |
Het |
Pramel51 |
A |
C |
12: 88,148,519 (GRCm39) |
C32W |
probably damaging |
Het |
Psmc4 |
A |
G |
7: 27,742,085 (GRCm39) |
V303A |
probably benign |
Het |
Ptdss2 |
A |
G |
7: 140,731,645 (GRCm39) |
N151S |
possibly damaging |
Het |
Ptprk |
T |
A |
10: 28,465,004 (GRCm39) |
Y1295* |
probably null |
Het |
Rbm19 |
A |
G |
5: 120,324,283 (GRCm39) |
K881E |
possibly damaging |
Het |
Rcan2 |
T |
A |
17: 44,331,993 (GRCm39) |
Y183* |
probably null |
Het |
Rnd1 |
T |
C |
15: 98,568,680 (GRCm39) |
E166G |
probably damaging |
Het |
Rnf113a2 |
T |
A |
12: 84,464,953 (GRCm39) |
C282S |
probably damaging |
Het |
S100b |
G |
A |
10: 76,092,926 (GRCm39) |
G20R |
probably benign |
Het |
Sae1 |
G |
T |
7: 16,102,469 (GRCm39) |
Y168* |
probably null |
Het |
Samd9l |
C |
A |
6: 3,372,600 (GRCm39) |
G1554* |
probably null |
Het |
Samhd1 |
T |
C |
2: 156,976,940 (GRCm39) |
S55G |
probably benign |
Het |
Sgsm1 |
T |
C |
5: 113,421,512 (GRCm39) |
D525G |
probably benign |
Het |
Slc28a3 |
A |
T |
13: 58,710,986 (GRCm39) |
M512K |
probably damaging |
Het |
Slc9b2 |
T |
A |
3: 135,024,151 (GRCm39) |
N67K |
probably benign |
Het |
Smarca4 |
T |
A |
9: 21,550,096 (GRCm39) |
I402N |
probably damaging |
Het |
St7l |
T |
C |
3: 104,796,669 (GRCm39) |
F261L |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,721,553 (GRCm39) |
V1140D |
probably damaging |
Het |
Syt6 |
T |
A |
3: 103,494,788 (GRCm39) |
I251N |
probably damaging |
Het |
Taok2 |
T |
C |
7: 126,465,990 (GRCm39) |
E916G |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,289,288 (GRCm39) |
S426P |
probably damaging |
Het |
Thra |
T |
C |
11: 98,655,134 (GRCm39) |
I338T |
probably damaging |
Het |
Trub1 |
A |
T |
19: 57,461,135 (GRCm39) |
Y137F |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,841,691 (GRCm39) |
F2574L |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,981 (GRCm39) |
D1091E |
probably damaging |
Het |
Zdhhc6 |
A |
G |
19: 55,301,682 (GRCm39) |
Y100H |
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 |
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'- GTTAGTATCCTGGCTCCCAC -3'
(R):5'- GAGGATCTTCTTCTGGTGCC -3'
Sequencing Primer
(F):5'- TCCCACAGGCTGGCAAC -3'
(R):5'- TCCTTAGCAGATCTCTAGAGACAG -3'
|
Posted On |
2019-06-26 |