Incidental Mutation 'R4893:Ephb2'
ID |
377388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb2
|
Ensembl Gene |
ENSMUSG00000028664 |
Gene Name |
Eph receptor B2 |
Synonyms |
eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5 |
MMRRC Submission |
042498-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R4893 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136387064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 722
(I722T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: I722T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: I722T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
261 |
304 |
8.1e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
518 |
1.23e-10 |
SMART |
Pfam:EphA2_TM
|
545 |
619 |
6e-25 |
PFAM |
TyrKc
|
622 |
881 |
1.34e-138 |
SMART |
SAM
|
911 |
978 |
1.18e-23 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105845
AA Change: I721T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: I721T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
259 |
305 |
2.2e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
517 |
1.41e-10 |
SMART |
Pfam:EphA2_TM
|
543 |
618 |
2.1e-30 |
PFAM |
TyrKc
|
621 |
880 |
1.34e-138 |
SMART |
SAM
|
910 |
977 |
1.18e-23 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105846
AA Change: I722T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: I722T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
259 |
305 |
2.2e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
517 |
1.41e-10 |
SMART |
Pfam:EphA2_TM
|
543 |
619 |
1e-30 |
PFAM |
TyrKc
|
622 |
881 |
1.34e-138 |
SMART |
SAM
|
911 |
978 |
1.18e-23 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156558
|
SMART Domains |
Protein: ENSMUSP00000116350 Gene: ENSMUSG00000028664
Domain | Start | End | E-Value | Type |
FN3
|
1 |
85 |
6.48e1 |
SMART |
FN3
|
104 |
186 |
1.23e-10 |
SMART |
Pfam:EphA2_TM
|
213 |
276 |
2.5e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors consist of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The encoded receptor preferentially binds membrane-bound ephrin-B ligands and is involved in nervous system and vascular development. This gene is used as a marker of intestinal stem cells. Homozygous knockout mice for this gene exhibit impaired axon guidance and vestibular function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,697,904 (GRCm39) |
I401T |
probably damaging |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Acss1 |
C |
A |
2: 150,471,786 (GRCm39) |
V323F |
probably damaging |
Het |
Adgrf3 |
T |
G |
5: 30,405,476 (GRCm39) |
D286A |
probably benign |
Het |
Akap5 |
T |
C |
12: 76,376,743 (GRCm39) |
V718A |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,326,983 (GRCm39) |
V732A |
probably benign |
Het |
Antxr2 |
T |
A |
5: 98,151,931 (GRCm39) |
D180V |
probably damaging |
Het |
Arfgef2 |
T |
G |
2: 166,708,876 (GRCm39) |
F1063V |
probably benign |
Het |
Ascl5 |
A |
T |
1: 135,978,917 (GRCm39) |
I126F |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,417,577 (GRCm39) |
|
probably null |
Het |
Atf6b |
T |
C |
17: 34,867,586 (GRCm39) |
S100P |
probably damaging |
Het |
Baz2a |
C |
A |
10: 127,959,284 (GRCm39) |
H1266Q |
possibly damaging |
Het |
Cdh4 |
A |
T |
2: 179,489,212 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
C |
G |
9: 108,726,620 (GRCm39) |
S3283C |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,630,934 (GRCm39) |
V309M |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,207,104 (GRCm39) |
Y436H |
probably damaging |
Het |
Csnk1a1 |
T |
C |
18: 61,718,372 (GRCm39) |
|
probably benign |
Het |
Cstf1 |
C |
T |
2: 172,222,444 (GRCm39) |
R401C |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,266,567 (GRCm39) |
I117T |
probably damaging |
Het |
Dlgap3 |
A |
G |
4: 127,088,776 (GRCm39) |
D124G |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,431,325 (GRCm39) |
D381G |
possibly damaging |
Het |
Dtna |
T |
C |
18: 23,702,724 (GRCm39) |
L85P |
probably damaging |
Het |
Epn3 |
A |
T |
11: 94,382,822 (GRCm39) |
F421I |
probably damaging |
Het |
Fam83f |
T |
A |
15: 80,576,156 (GRCm39) |
L269H |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
Gata4 |
G |
A |
14: 63,439,045 (GRCm39) |
A139V |
probably benign |
Het |
Glce |
T |
C |
9: 61,975,777 (GRCm39) |
D241G |
probably benign |
Het |
Gm17728 |
A |
T |
17: 9,641,063 (GRCm39) |
I58F |
probably benign |
Het |
Inhba |
A |
T |
13: 16,201,134 (GRCm39) |
D232V |
possibly damaging |
Het |
Itgb2l |
C |
A |
16: 96,229,021 (GRCm39) |
R394L |
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,690,992 (GRCm39) |
Y486C |
probably damaging |
Het |
Krt1 |
A |
G |
15: 101,758,555 (GRCm39) |
I203T |
probably damaging |
Het |
Lims2 |
T |
C |
18: 32,074,864 (GRCm39) |
|
probably null |
Het |
Lrrc31 |
T |
G |
3: 30,733,446 (GRCm39) |
I423L |
probably benign |
Het |
Map7d1 |
C |
T |
4: 126,127,015 (GRCm39) |
D732N |
unknown |
Het |
Mau2 |
A |
T |
8: 70,483,290 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
G |
A |
8: 120,244,932 (GRCm39) |
R840W |
probably damaging |
Het |
Morn3 |
T |
C |
5: 123,175,745 (GRCm39) |
I214M |
probably damaging |
Het |
Mrpl44 |
A |
G |
1: 79,755,582 (GRCm39) |
K63E |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,615,042 (GRCm39) |
T112A |
possibly damaging |
Het |
Myo6 |
T |
A |
9: 80,136,159 (GRCm39) |
L94Q |
probably damaging |
Het |
Nos1 |
C |
A |
5: 118,090,942 (GRCm39) |
T1423K |
possibly damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,653 (GRCm39) |
T22A |
probably benign |
Het |
Or2t1 |
T |
C |
14: 14,328,852 (GRCm38) |
V247A |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,385,429 (GRCm39) |
T1114A |
probably benign |
Het |
Pgm2 |
T |
C |
5: 64,263,283 (GRCm39) |
V310A |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,194,900 (GRCm39) |
E166G |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,436 (GRCm39) |
D303E |
probably damaging |
Het |
Pik3c3 |
G |
T |
18: 30,415,053 (GRCm39) |
V149L |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,365,026 (GRCm39) |
Y1126F |
probably benign |
Het |
Pkd2l1 |
T |
A |
19: 44,142,210 (GRCm39) |
Q516L |
probably benign |
Het |
Pnliprp2 |
C |
A |
19: 58,759,853 (GRCm39) |
Q355K |
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,943,688 (GRCm39) |
Y1314* |
probably null |
Het |
Ppp1r1b |
A |
G |
11: 98,246,170 (GRCm39) |
T51A |
possibly damaging |
Het |
Prkcd |
A |
T |
14: 30,321,382 (GRCm39) |
S544T |
probably damaging |
Het |
Pusl1 |
G |
A |
4: 155,973,998 (GRCm39) |
T252I |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,745 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
T |
4: 87,145,145 (GRCm39) |
V303E |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,285,697 (GRCm39) |
|
probably null |
Het |
Sox8 |
T |
C |
17: 25,787,963 (GRCm39) |
D162G |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,197,992 (GRCm39) |
|
probably null |
Het |
Taar6 |
T |
C |
10: 23,861,298 (GRCm39) |
I83V |
probably benign |
Het |
Tes |
T |
A |
6: 17,104,595 (GRCm39) |
C359S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,676 (GRCm39) |
L435H |
probably damaging |
Het |
Zfhx3 |
G |
T |
8: 109,683,639 (GRCm39) |
D3693Y |
unknown |
Het |
Zfp931 |
G |
A |
2: 177,709,996 (GRCm39) |
P130L |
probably damaging |
Het |
Zfr |
T |
G |
15: 12,136,628 (GRCm39) |
V95G |
unknown |
Het |
Zw10 |
A |
G |
9: 48,985,325 (GRCm39) |
E587G |
possibly damaging |
Het |
|
Other mutations in Ephb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ephb2
|
APN |
4 |
136,384,795 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00963:Ephb2
|
APN |
4 |
136,386,262 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01111:Ephb2
|
APN |
4 |
136,384,721 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01462:Ephb2
|
APN |
4 |
136,498,681 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01863:Ephb2
|
APN |
4 |
136,387,088 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02149:Ephb2
|
APN |
4 |
136,421,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Ephb2
|
APN |
4 |
136,384,762 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02269:Ephb2
|
APN |
4 |
136,498,360 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02828:Ephb2
|
APN |
4 |
136,498,461 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03109:Ephb2
|
APN |
4 |
136,498,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03284:Ephb2
|
APN |
4 |
136,388,827 (GRCm39) |
missense |
probably damaging |
0.96 |
Zimbalist
|
UTSW |
4 |
136,387,020 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Ephb2
|
UTSW |
4 |
136,388,121 (GRCm39) |
missense |
probably benign |
0.00 |
R0004:Ephb2
|
UTSW |
4 |
136,384,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Ephb2
|
UTSW |
4 |
136,498,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R0539:Ephb2
|
UTSW |
4 |
136,383,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R0614:Ephb2
|
UTSW |
4 |
136,400,676 (GRCm39) |
missense |
probably benign |
0.00 |
R0988:Ephb2
|
UTSW |
4 |
136,387,019 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1471:Ephb2
|
UTSW |
4 |
136,386,262 (GRCm39) |
missense |
probably benign |
0.04 |
R1473:Ephb2
|
UTSW |
4 |
136,421,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1546:Ephb2
|
UTSW |
4 |
136,498,320 (GRCm39) |
missense |
probably damaging |
0.99 |
R1639:Ephb2
|
UTSW |
4 |
136,421,216 (GRCm39) |
missense |
probably benign |
0.10 |
R1725:Ephb2
|
UTSW |
4 |
136,387,089 (GRCm39) |
nonsense |
probably null |
|
R1779:Ephb2
|
UTSW |
4 |
136,421,136 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1818:Ephb2
|
UTSW |
4 |
136,382,647 (GRCm39) |
missense |
probably benign |
0.02 |
R2099:Ephb2
|
UTSW |
4 |
136,388,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R2916:Ephb2
|
UTSW |
4 |
136,411,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R3885:Ephb2
|
UTSW |
4 |
136,498,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Ephb2
|
UTSW |
4 |
136,383,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Ephb2
|
UTSW |
4 |
136,423,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Ephb2
|
UTSW |
4 |
136,423,321 (GRCm39) |
missense |
probably benign |
0.09 |
R4992:Ephb2
|
UTSW |
4 |
136,388,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Ephb2
|
UTSW |
4 |
136,387,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5307:Ephb2
|
UTSW |
4 |
136,421,098 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5370:Ephb2
|
UTSW |
4 |
136,498,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5561:Ephb2
|
UTSW |
4 |
136,388,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Ephb2
|
UTSW |
4 |
136,498,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R5826:Ephb2
|
UTSW |
4 |
136,388,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Ephb2
|
UTSW |
4 |
136,399,756 (GRCm39) |
missense |
probably benign |
|
R5867:Ephb2
|
UTSW |
4 |
136,402,733 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5990:Ephb2
|
UTSW |
4 |
136,423,366 (GRCm39) |
missense |
probably benign |
0.03 |
R6000:Ephb2
|
UTSW |
4 |
136,411,341 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6156:Ephb2
|
UTSW |
4 |
136,388,816 (GRCm39) |
missense |
probably benign |
0.44 |
R6413:Ephb2
|
UTSW |
4 |
136,498,433 (GRCm39) |
missense |
probably benign |
0.08 |
R6577:Ephb2
|
UTSW |
4 |
136,384,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R6633:Ephb2
|
UTSW |
4 |
136,411,307 (GRCm39) |
missense |
probably benign |
0.07 |
R6720:Ephb2
|
UTSW |
4 |
136,384,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R6795:Ephb2
|
UTSW |
4 |
136,400,646 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7235:Ephb2
|
UTSW |
4 |
136,421,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7260:Ephb2
|
UTSW |
4 |
136,498,885 (GRCm39) |
missense |
probably damaging |
0.96 |
R7328:Ephb2
|
UTSW |
4 |
136,386,245 (GRCm39) |
critical splice donor site |
probably null |
|
R7404:Ephb2
|
UTSW |
4 |
136,498,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Ephb2
|
UTSW |
4 |
136,386,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Ephb2
|
UTSW |
4 |
136,387,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Ephb2
|
UTSW |
4 |
136,498,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R7611:Ephb2
|
UTSW |
4 |
136,388,212 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7777:Ephb2
|
UTSW |
4 |
136,498,947 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7889:Ephb2
|
UTSW |
4 |
136,498,353 (GRCm39) |
missense |
probably damaging |
0.99 |
R7929:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R8191:Ephb2
|
UTSW |
4 |
136,386,256 (GRCm39) |
missense |
probably damaging |
0.96 |
R8370:Ephb2
|
UTSW |
4 |
136,383,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8444:Ephb2
|
UTSW |
4 |
136,388,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Ephb2
|
UTSW |
4 |
136,498,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R8988:Ephb2
|
UTSW |
4 |
136,402,769 (GRCm39) |
missense |
probably benign |
0.42 |
R9410:Ephb2
|
UTSW |
4 |
136,386,948 (GRCm39) |
missense |
probably null |
1.00 |
R9722:Ephb2
|
UTSW |
4 |
136,384,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATGATTATGCCCAGGGAC -3'
(R):5'- TCCTCAAGTTGGCTTCTCTGAG -3'
Sequencing Primer
(F):5'- ATGATTATGCCCAGGGACCCTTG -3'
(R):5'- CTTCTCTGAGATTGCCAGGCG -3'
|
Posted On |
2016-03-17 |