Incidental Mutation 'R4655:Ephb3'
| ID |
352392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
041915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R4655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21040958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 672
(G672D)
|
| 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: G926D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: G926D
| 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: G672D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1370 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (79/82) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,314,778 (GRCm39) |
V300A |
probably benign |
Het |
| Aadacl4fm2 |
A |
T |
4: 144,281,645 (GRCm39) |
F382L |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,941,147 (GRCm39) |
N405S |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,668,063 (GRCm39) |
T212A |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,986,065 (GRCm39) |
K2450E |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,403 (GRCm39) |
R2426H |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,499,428 (GRCm39) |
V266A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,889,232 (GRCm39) |
V11A |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,122,136 (GRCm39) |
H228L |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,686,559 (GRCm39) |
Q248* |
probably null |
Het |
| Cux2 |
G |
A |
5: 122,023,997 (GRCm39) |
T92M |
possibly damaging |
Het |
| Cyb5r4 |
A |
G |
9: 86,941,482 (GRCm39) |
K68E |
probably benign |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,558 (GRCm39) |
N2918S |
probably benign |
Het |
| Dyrk1b |
T |
C |
7: 27,885,176 (GRCm39) |
V438A |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,500,972 (GRCm39) |
D625N |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,889 (GRCm39) |
|
probably null |
Het |
| Evx1 |
A |
T |
6: 52,291,182 (GRCm39) |
D118V |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,787,037 (GRCm39) |
L300S |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,837 (GRCm39) |
F520L |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,286,403 (GRCm39) |
P728S |
possibly damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,314,001 (GRCm39) |
E437G |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,102 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,232 (GRCm39) |
|
probably benign |
Het |
| Gm7358 |
A |
T |
17: 14,279,410 (GRCm39) |
|
noncoding transcript |
Het |
| Grifin |
A |
G |
5: 140,550,300 (GRCm39) |
V47A |
possibly damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,923 (GRCm39) |
V90A |
probably benign |
Het |
| Hddc2 |
G |
T |
10: 31,204,016 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
A |
10: 62,236,242 (GRCm39) |
R433S |
probably benign |
Het |
| Htt |
A |
G |
5: 35,063,476 (GRCm39) |
D2918G |
probably benign |
Het |
| Itga2 |
A |
C |
13: 115,009,805 (GRCm39) |
D383E |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,458,254 (GRCm39) |
C2007Y |
probably damaging |
Het |
| Krt42 |
C |
A |
11: 100,160,671 (GRCm39) |
Q9H |
probably damaging |
Het |
| Lyrm7 |
T |
C |
11: 54,739,434 (GRCm39) |
Q72R |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,793,122 (GRCm39) |
S424G |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,242,679 (GRCm39) |
V457A |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,781,523 (GRCm39) |
L1359P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,117,311 (GRCm39) |
L4087P |
probably damaging |
Het |
| Npl |
T |
C |
1: 153,391,152 (GRCm39) |
D201G |
probably damaging |
Het |
| Or1af1 |
A |
G |
2: 37,109,885 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b1c |
C |
A |
9: 38,384,120 (GRCm39) |
P26T |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,059,037 (GRCm39) |
S93P |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,397 (GRCm39) |
|
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,168 (GRCm39) |
D339G |
probably benign |
Het |
| Pfdn6 |
A |
T |
17: 34,159,014 (GRCm39) |
Y16* |
probably null |
Het |
| Pilra |
C |
T |
5: 137,833,588 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
T |
17: 35,374,590 (GRCm39) |
N1353K |
probably benign |
Het |
| Prss3l |
T |
A |
6: 41,422,984 (GRCm39) |
I6F |
probably benign |
Het |
| Ptger4 |
C |
A |
15: 5,272,545 (GRCm39) |
A50S |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,622,707 (GRCm39) |
V109A |
probably benign |
Het |
| Pus3 |
A |
C |
9: 35,476,228 (GRCm39) |
D39A |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,168 (GRCm39) |
N119D |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,876 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
T |
A |
14: 70,033,438 (GRCm39) |
I511F |
probably damaging |
Het |
| Sfxn1 |
C |
A |
13: 54,246,457 (GRCm39) |
A167D |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,188,111 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
C |
T |
11: 75,281,558 (GRCm39) |
L344F |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,728,972 (GRCm39) |
V93A |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,063,581 (GRCm39) |
I224T |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,663,868 (GRCm39) |
S479R |
possibly damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,087,702 (GRCm39) |
M296V |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,013,894 (GRCm39) |
N382D |
possibly damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,677,322 (GRCm39) |
S662P |
probably damaging |
Het |
| Tppp |
G |
T |
13: 74,178,983 (GRCm39) |
R141S |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,790,828 (GRCm39) |
D858G |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,258,130 (GRCm39) |
S287P |
possibly damaging |
Het |
| Unc80 |
T |
G |
1: 66,710,821 (GRCm39) |
S2697A |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,026 (GRCm39) |
V235A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,375 (GRCm39) |
I650N |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,932 (GRCm39) |
T629I |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,555 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,229,973 (GRCm39) |
C46* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,770,835 (GRCm39) |
S2093P |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,711,893 (GRCm39) |
R2375G |
probably damaging |
Het |
| Wnk2 |
T |
G |
13: 49,210,359 (GRCm39) |
E1820A |
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 |
|
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'- CTTATCCGCAATGCTGCCAG -3'
(R):5'- CCCAATCCTTAGCAGATCTCTAGAG -3'
Sequencing Primer
(F):5'- AATGCTGCCAGCCTCAAGG -3'
(R):5'- AAAAATGGTACTCAGTCCCTCCCTTC -3'
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| Posted On |
2015-10-08 |
Incidental Mutation