Incidental Mutation 'R7328:Ephb2'
| ID |
569042 |
| 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 |
045421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
R7328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 136386245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
| AlphaFold |
P54763 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059287
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
| 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 null
Transcript: ENSMUST00000105845
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
| 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 null
Transcript: ENSMUST00000105845
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
| 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 null
Transcript: ENSMUST00000105846
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
| 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
G |
11: 72,060,606 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,241,545 (GRCm39) |
V1136E |
probably benign |
Het |
| Arl4c |
C |
A |
1: 88,629,239 (GRCm39) |
E50* |
probably null |
Het |
| Atxn7l1 |
T |
C |
12: 33,198,502 (GRCm39) |
|
probably null |
Het |
| Ctdsp1 |
A |
T |
1: 74,433,199 (GRCm39) |
I115F |
probably damaging |
Het |
| Cyp2j5 |
A |
G |
4: 96,551,450 (GRCm39) |
V91A |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,446,235 (GRCm39) |
K1469* |
probably null |
Het |
| Elf2 |
A |
G |
3: 51,174,198 (GRCm39) |
C110R |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 102,072,438 (GRCm39) |
Y114H |
probably damaging |
Het |
| Fbxw20 |
C |
A |
9: 109,061,383 (GRCm39) |
C122F |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,883,788 (GRCm38) |
I338T |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,894,660 (GRCm38) |
Y819* |
probably null |
Het |
| Foxo3 |
A |
T |
10: 42,073,258 (GRCm39) |
S420T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,113,248 (GRCm39) |
V10A |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,514,617 (GRCm39) |
V3585E |
possibly damaging |
Het |
| Hsdl1 |
T |
C |
8: 120,292,830 (GRCm39) |
T202A |
probably benign |
Het |
| Htr1d |
G |
A |
4: 136,170,614 (GRCm39) |
S281N |
probably benign |
Het |
| Igkv14-111 |
T |
A |
6: 68,233,709 (GRCm39) |
I70N |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,328 (GRCm39) |
S45P |
probably damaging |
Het |
| Inha |
T |
C |
1: 75,486,760 (GRCm39) |
Y352H |
probably damaging |
Het |
| Lats1 |
A |
T |
10: 7,581,311 (GRCm39) |
M699L |
possibly damaging |
Het |
| Marchf9 |
T |
C |
10: 126,894,165 (GRCm39) |
E146G |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,674,777 (GRCm39) |
V443A |
probably benign |
Het |
| Melk |
A |
T |
4: 44,332,931 (GRCm39) |
S296C |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,698,737 (GRCm39) |
S4P |
|
Het |
| Myof |
T |
C |
19: 37,904,847 (GRCm39) |
Y1646C |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,796,789 (GRCm39) |
A498S |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 88,762,345 (GRCm39) |
S131P |
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,506,507 (GRCm39) |
I312T |
probably benign |
Het |
| Or5ak23 |
A |
G |
2: 85,244,668 (GRCm39) |
I185T |
probably benign |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,857 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Phldb2 |
T |
A |
16: 45,578,572 (GRCm39) |
|
probably null |
Het |
| Polr2b |
C |
T |
5: 77,463,846 (GRCm39) |
P81L |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,236,454 (GRCm39) |
G215C |
probably benign |
Het |
| Rdh19 |
T |
C |
10: 127,692,896 (GRCm39) |
S188P |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,931 (GRCm39) |
M1596V |
probably benign |
Het |
| Sele |
A |
T |
1: 163,876,844 (GRCm39) |
Y40F |
probably benign |
Het |
| Setd1b |
T |
A |
5: 123,290,442 (GRCm39) |
V803D |
unknown |
Het |
| Siglecf |
C |
T |
7: 43,001,691 (GRCm39) |
T167I |
possibly damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,733,987 (GRCm39) |
E234G |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,882,134 (GRCm39) |
D145V |
possibly damaging |
Het |
| Son |
G |
A |
16: 91,455,278 (GRCm39) |
V1342I |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,651,190 (GRCm39) |
P38L |
not run |
Het |
| Taf15 |
C |
T |
11: 83,375,658 (GRCm39) |
T41M |
possibly damaging |
Het |
| Tm4sf4 |
A |
T |
3: 57,333,925 (GRCm39) |
N71Y |
probably benign |
Het |
| Tm7sf2 |
C |
T |
19: 6,114,156 (GRCm39) |
V226I |
possibly damaging |
Het |
| Trim66 |
C |
A |
7: 109,056,958 (GRCm39) |
Q1066H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,291,685 (GRCm39) |
V51A |
probably benign |
Het |
| Vav3 |
A |
T |
3: 109,410,744 (GRCm39) |
I192L |
probably benign |
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 |
|
R4893:Ephb2
|
UTSW |
4 |
136,387,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CCGATGCACAACTGGTTCTG -3'
(R):5'- CGCGGTATAGAGAGTATCAGTC -3'
Sequencing Primer
(F):5'- CACAACTGGTTCTGTGAAGAGGTC -3'
(R):5'- TAGAGAGTATCAGTCAGGTCACTAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation