Incidental Mutation 'R7236:Ephb3'
| ID |
562848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
045306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R7236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21033231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 106
(R106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
[ENSMUST00000231316]
[ENSMUST00000232407]
|
| AlphaFold |
P54754 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: R106G
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231316
AA Change: R72G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232407
AA Change: R72G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,921,644 (GRCm39) |
V179I |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,151 (GRCm39) |
I362T |
possibly damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,950 (GRCm39) |
K104E |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,474,101 (GRCm39) |
Y15C |
probably benign |
Het |
| C2cd2l |
C |
A |
9: 44,228,960 (GRCm39) |
A124S |
possibly damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,116 (GRCm39) |
F595L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,464 (GRCm39) |
D93E |
probably benign |
Het |
| Cd200l2 |
A |
T |
16: 45,348,030 (GRCm39) |
I169N |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,598,012 (GRCm39) |
|
probably null |
Het |
| Ciapin1 |
T |
C |
8: 95,550,338 (GRCm39) |
T34A |
|
Het |
| Dop1a |
G |
A |
9: 86,397,431 (GRCm39) |
V912I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,790,093 (GRCm39) |
Q2832L |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,151,495 (GRCm39) |
T610A |
possibly damaging |
Het |
| Ephx3 |
T |
A |
17: 32,404,328 (GRCm39) |
|
probably null |
Het |
| Etv2 |
A |
T |
7: 30,334,455 (GRCm39) |
S93T |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,841 (GRCm39) |
D451E |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,504,140 (GRCm39) |
F141L |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,265,821 (GRCm39) |
K500R |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,828,884 (GRCm39) |
D170G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,458,897 (GRCm39) |
N34S |
possibly damaging |
Het |
| Golga5 |
T |
A |
12: 102,441,034 (GRCm39) |
|
probably null |
Het |
| Herc2 |
G |
T |
7: 55,734,828 (GRCm39) |
L139F |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,578,240 (GRCm39) |
N423I |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,660,439 (GRCm39) |
*717R |
probably null |
Het |
| Itga2 |
G |
T |
13: 115,014,227 (GRCm39) |
Q234K |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,799,951 (GRCm39) |
|
probably null |
Het |
| Kif19b |
G |
T |
5: 140,457,400 (GRCm39) |
A390S |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,653 (GRCm39) |
S69G |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,037,944 (GRCm39) |
V294A |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,911,754 (GRCm39) |
I259K |
possibly damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,711 (GRCm39) |
N288K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,400,965 (GRCm39) |
W116R |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,963,932 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,401,512 (GRCm39) |
K879E |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,533 (GRCm39) |
C162* |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,523,909 (GRCm39) |
T355A |
probably benign |
Het |
| Patj |
C |
T |
4: 98,299,294 (GRCm39) |
R139C |
probably damaging |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,505 (GRCm39) |
A157V |
probably damaging |
Het |
| Phkg1 |
C |
A |
5: 129,895,802 (GRCm39) |
D150Y |
probably damaging |
Het |
| Ppp2r5c |
C |
T |
12: 110,432,323 (GRCm39) |
S45L |
probably benign |
Het |
| Prl4a1 |
A |
C |
13: 28,202,556 (GRCm39) |
T44P |
probably benign |
Het |
| Ptpro |
G |
A |
6: 137,345,335 (GRCm39) |
V114M |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,715,147 (GRCm39) |
N211S |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,282,747 (GRCm39) |
D504G |
probably benign |
Het |
| Rock2 |
A |
T |
12: 16,979,003 (GRCm39) |
I98F |
probably damaging |
Het |
| Senp6 |
G |
T |
9: 80,040,247 (GRCm39) |
V785L |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,609 (GRCm39) |
D319G |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,723 (GRCm39) |
I235N |
probably damaging |
Het |
| Tas2r110 |
A |
T |
6: 132,845,667 (GRCm39) |
M233L |
possibly damaging |
Het |
| Tmem260 |
C |
T |
14: 48,746,647 (GRCm39) |
|
probably null |
Het |
| Trank1 |
G |
T |
9: 111,202,142 (GRCm39) |
V1590L |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,842,568 (GRCm39) |
M286K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,697,796 (GRCm39) |
T202A |
|
Het |
| Ttyh1 |
A |
G |
7: 4,136,663 (GRCm39) |
N424D |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,263,502 (GRCm39) |
|
probably null |
Het |
| Utp20 |
G |
T |
10: 88,585,204 (GRCm39) |
P2620Q |
probably benign |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,133 (GRCm39) |
M279T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,576 (GRCm39) |
I683K |
probably benign |
Het |
| Vmn2r34 |
T |
C |
7: 7,684,750 (GRCm39) |
K481E |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,917 (GRCm39) |
H339L |
possibly damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,811 (GRCm39) |
N200I |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,984,074 (GRCm39) |
Y3493H |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,208 (GRCm39) |
D109G |
possibly damaging |
Het |
| Zfp286 |
A |
T |
11: 62,674,496 (GRCm39) |
|
probably null |
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 |
|
|
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'- ACGAGATAAACGGCTCATTCTC -3'
(R):5'- CCAAGTAGAAGCCAGCCTTG -3'
Sequencing Primer
(F):5'- GAGATAAACGGCTCATTCTCTTTTTC -3'
(R):5'- CGCACCTTGGTGTTGACAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation