Incidental Mutation 'R2414:Epor'
| ID |
250107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epor
|
| Ensembl Gene |
ENSMUSG00000006235 |
| Gene Name |
erythropoietin receptor |
| Synonyms |
|
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21870193-21874802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21870785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 365
(D365V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006397]
[ENSMUST00000053583]
[ENSMUST00000213181]
|
| AlphaFold |
P14753 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006397
AA Change: D365V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: D365V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
37 |
139 |
9.1e-30 |
PFAM |
|
FN3
|
144 |
227 |
2.48e-6 |
SMART |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
451 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053583
|
| SMART Domains |
Protein: ENSMUSP00000060331
Gene: ENSMUSG00000051238
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
52 |
N/A |
INTRINSIC |
|
Blast:AAA
|
53 |
189 |
3e-34 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213181
|
| Meta Mutation Damage Score |
0.6647 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
Het |
|
| Other mutations in Epor |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Epor
|
APN |
9 |
21,871,887 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01377:Epor
|
APN |
9 |
21,870,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Epor
|
APN |
9 |
21,870,735 (GRCm39) |
splice site |
probably null |
|
|
IGL01462:Epor
|
APN |
9 |
21,870,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Epor
|
UTSW |
9 |
21,871,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Epor
|
UTSW |
9 |
21,870,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2655:Epor
|
UTSW |
9 |
21,872,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Epor
|
UTSW |
9 |
21,870,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Epor
|
UTSW |
9 |
21,873,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4599:Epor
|
UTSW |
9 |
21,873,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Epor
|
UTSW |
9 |
21,873,572 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6462:Epor
|
UTSW |
9 |
21,870,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7182:Epor
|
UTSW |
9 |
21,874,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7413:Epor
|
UTSW |
9 |
21,874,776 (GRCm39) |
unclassified |
probably benign |
|
|
R8717:Epor
|
UTSW |
9 |
21,870,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9053:Epor
|
UTSW |
9 |
21,870,655 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9108:Epor
|
UTSW |
9 |
21,870,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Epor
|
UTSW |
9 |
21,870,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTACTCAAAGCTGGAAGG -3'
(R):5'- GGGTAACTTCCAGGTAGGTGAC -3'
Sequencing Primer
(F):5'- TGGAAGGTGAGGTGCCC -3'
(R):5'- ACTGAAGGTGCCTCTGAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation