Incidental Mutation 'R6350:Il3ra'
| ID |
514167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il3ra
|
| Ensembl Gene |
ENSMUSG00000068758 |
| Gene Name |
interleukin 3 receptor, alpha chain |
| Synonyms |
CD123, SUT-1, IL-3 receptor alpha chain |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6350 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
8114270-8123851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14348903 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 99
(D99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090591]
[ENSMUST00000223589]
[ENSMUST00000224163]
[ENSMUST00000224877]
[ENSMUST00000225775]
|
| AlphaFold |
P26952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090591
AA Change: D99G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758
AA Change: D99G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:IL6Ra-bind
|
119 |
233 |
6.1e-33 |
PFAM |
|
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223589
AA Change: D99G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224163
AA Change: D99G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225775
AA Change: D99G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]
PHENOTYPE: A number of distantly related inbred mouse strains carrying an identical spontaneous deletion at the branch point in intron 7 exhibit a reduced capacity of bone marrow cells to form colonies in response to interleukin-3 in CFU-GM assays. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
| Other mutations in Il3ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02454:Il3ra
|
APN |
14 |
14,351,113 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02547:Il3ra
|
APN |
14 |
14,351,970 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02550:Il3ra
|
APN |
14 |
14,348,055 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02632:Il3ra
|
APN |
14 |
14,350,807 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02737:Il3ra
|
APN |
14 |
14,350,760 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0165:Il3ra
|
UTSW |
14 |
14,350,967 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0597:Il3ra
|
UTSW |
14 |
14,351,166 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1109:Il3ra
|
UTSW |
14 |
14,349,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2211:Il3ra
|
UTSW |
14 |
14,355,029 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2409:Il3ra
|
UTSW |
14 |
14,349,377 (GRCm38) |
splice site |
probably null |
|
|
R4258:Il3ra
|
UTSW |
14 |
14,347,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4896:Il3ra
|
UTSW |
14 |
14,355,381 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4994:Il3ra
|
UTSW |
14 |
14,351,080 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5004:Il3ra
|
UTSW |
14 |
14,355,381 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5935:Il3ra
|
UTSW |
14 |
14,350,799 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6274:Il3ra
|
UTSW |
14 |
14,350,180 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6403:Il3ra
|
UTSW |
14 |
14,347,137 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6845:Il3ra
|
UTSW |
14 |
14,346,517 (GRCm38) |
splice site |
probably null |
|
|
R7417:Il3ra
|
UTSW |
14 |
14,349,345 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7432:Il3ra
|
UTSW |
14 |
14,350,691 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7450:Il3ra
|
UTSW |
14 |
14,351,090 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7917:Il3ra
|
UTSW |
14 |
14,350,773 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8048:Il3ra
|
UTSW |
14 |
14,348,903 (GRCm38) |
missense |
probably benign |
0.07 |
|
Z1088:Il3ra
|
UTSW |
14 |
14,351,129 (GRCm38) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTAATGCAAATTAGTGCTGGCCC -3'
(R):5'- GGTCACACATGGGATCAGAG -3'
Sequencing Primer
(F):5'- AATTAGTGCTGGCCCTACCAC -3'
(R):5'- GGTCACACCTGGCATCATAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation