Incidental Mutation 'R6445:Il9r'
| ID |
519168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il9r
|
| Ensembl Gene |
ENSMUSG00000020279 |
| Gene Name |
interleukin 9 receptor |
| Synonyms |
|
| MMRRC Submission |
044388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6445 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32137541-32150279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32141000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 346
(G346D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020518]
[ENSMUST00000128311]
[ENSMUST00000142396]
[ENSMUST00000145401]
|
| AlphaFold |
Q01114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020518
|
| SMART Domains |
Protein: ENSMUSP00000020518
Gene: ENSMUSG00000020279
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gh7a2
|
47 |
98 |
1e-3 |
SMART |
|
Blast:FN3
|
49 |
95 |
4e-22 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128311
AA Change: G341D
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: G341D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GS7|B
|
48 |
254 |
5e-6 |
PDB |
|
SCOP:d1gh7a2
|
143 |
257 |
4e-11 |
SMART |
|
Blast:FN3
|
146 |
229 |
5e-43 |
BLAST |
|
transmembrane domain
|
270 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131979
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142396
AA Change: G346D
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: G346D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GS7|B
|
53 |
259 |
5e-6 |
PDB |
|
SCOP:d1gh7a2
|
148 |
262 |
3e-11 |
SMART |
|
Blast:FN3
|
151 |
234 |
5e-43 |
BLAST |
|
transmembrane domain
|
275 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145401
AA Change: G340D
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: G340D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
146 |
228 |
3e-42 |
BLAST |
|
SCOP:d1egja_
|
147 |
256 |
1e-10 |
SMART |
|
transmembrane domain
|
269 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| 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 a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are more susceptible to experimental autoimmune encephalomyelitis, a defect partially attributable to defective regulatory T cell function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
| Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,613,668 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
| Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
| Gna11 |
A |
T |
10: 81,369,167 (GRCm39) |
I132N |
probably damaging |
Het |
| Ikzf4 |
C |
A |
10: 128,472,424 (GRCm39) |
|
probably null |
Het |
| Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
| Mfsd8 |
T |
C |
3: 40,791,553 (GRCm39) |
I54V |
probably damaging |
Het |
| Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
| Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
| Syt10 |
G |
A |
15: 89,698,471 (GRCm39) |
T291I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
probably damaging |
Het |
|
| Other mutations in Il9r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03267:Il9r
|
APN |
11 |
32,141,778 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
PIT4305001:Il9r
|
UTSW |
11 |
32,144,734 (GRCm39) |
missense |
probably benign |
|
|
PIT4651001:Il9r
|
UTSW |
11 |
32,141,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1691:Il9r
|
UTSW |
11 |
32,141,829 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1695:Il9r
|
UTSW |
11 |
32,143,227 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4816:Il9r
|
UTSW |
11 |
32,142,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5381:Il9r
|
UTSW |
11 |
32,140,715 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5701:Il9r
|
UTSW |
11 |
32,143,263 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6015:Il9r
|
UTSW |
11 |
32,142,674 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6584:Il9r
|
UTSW |
11 |
32,141,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6976:Il9r
|
UTSW |
11 |
32,143,177 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Il9r
|
UTSW |
11 |
32,142,671 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7326:Il9r
|
UTSW |
11 |
32,144,389 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7948:Il9r
|
UTSW |
11 |
32,144,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Il9r
|
UTSW |
11 |
32,140,853 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0028:Il9r
|
UTSW |
11 |
32,140,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGCTGTCCTTCCAACTC -3'
(R):5'- AGCCAGAGGTTTCACACACG -3'
Sequencing Primer
(F):5'- GGCTGTCCTTCCAACTCCAGAC -3'
(R):5'- TTTCACACACGGGGGTAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation