Incidental Mutation 'R8467:Il7r'
| ID |
656890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il7r
|
| Ensembl Gene |
ENSMUSG00000003882 |
| Gene Name |
interleukin 7 receptor |
| Synonyms |
IL-7 receptor alpha chain, CD127, IL-7Ralpha |
| MMRRC Submission |
067911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9505874-9530262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9512973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 179
(T179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003981]
[ENSMUST00000228782]
|
| AlphaFold |
P16872 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003981
AA Change: T179A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: T179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
FN3
|
129 |
216 |
1.09e1 |
SMART |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228782
AA Change: T179A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.1289 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apon |
G |
A |
10: 128,091,002 (GRCm39) |
V227I |
probably benign |
Het |
| Arl9 |
T |
C |
5: 77,154,446 (GRCm39) |
I58T |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,951,787 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Cd55b |
A |
C |
1: 130,347,501 (GRCm39) |
S103R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,791,321 (GRCm39) |
F1268L |
probably benign |
Het |
| D17H6S53E |
T |
A |
17: 35,346,246 (GRCm39) |
D52E |
probably damaging |
Het |
| Dhx57 |
G |
C |
17: 80,561,853 (GRCm39) |
P887R |
probably damaging |
Het |
| Ehd1 |
T |
G |
19: 6,331,318 (GRCm39) |
S159A |
probably benign |
Het |
| Fam98a |
C |
A |
17: 75,851,830 (GRCm39) |
G84W |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
A |
5: 105,475,457 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,627,269 (GRCm39) |
H81R |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,596 (GRCm39) |
E680G |
possibly damaging |
Het |
| Grid2 |
A |
G |
6: 64,510,635 (GRCm39) |
D755G |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,238 (GRCm39) |
Y185H |
probably damaging |
Het |
| Hunk |
A |
G |
16: 90,293,508 (GRCm39) |
R597G |
probably damaging |
Het |
| Igfbp3 |
A |
G |
11: 7,163,523 (GRCm39) |
C90R |
probably damaging |
Het |
| Iqsec3 |
G |
A |
6: 121,358,676 (GRCm39) |
T1003I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 64,996,154 (GRCm39) |
D980V |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,100,021 (GRCm39) |
D1525G |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,731 (GRCm39) |
E271G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Marchf10 |
A |
T |
11: 105,280,979 (GRCm39) |
Y435* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,105 (GRCm39) |
I108V |
possibly damaging |
Het |
| Mup9 |
C |
T |
4: 60,376,481 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,136,168 (GRCm39) |
V97E |
probably damaging |
Het |
| Nobox |
G |
T |
6: 43,282,479 (GRCm39) |
D309E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,151,015 (GRCm39) |
D355G |
probably benign |
Het |
| Or6n1 |
A |
T |
1: 173,917,007 (GRCm39) |
T134S |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,993 (GRCm39) |
D744G |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,228,627 (GRCm39) |
V182A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,375,731 (GRCm39) |
I231N |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,015 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,121 (GRCm39) |
M1K |
probably null |
Het |
| Sp3 |
G |
A |
2: 72,801,482 (GRCm39) |
T177I |
possibly damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,441 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,644,790 (GRCm39) |
H1137Q |
probably damaging |
Het |
|
| Other mutations in Il7r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Il7r
|
APN |
15 |
9,525,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Il7r
|
APN |
15 |
9,510,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01094:Il7r
|
APN |
15 |
9,508,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01406:Il7r
|
APN |
15 |
9,508,300 (GRCm39) |
nonsense |
probably null |
|
|
IGL02135:Il7r
|
APN |
15 |
9,508,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02642:Il7r
|
APN |
15 |
9,513,133 (GRCm39) |
splice site |
probably benign |
|
|
happy
|
UTSW |
15 |
9,508,273 (GRCm39) |
missense |
probably benign |
|
|
R0278:Il7r
|
UTSW |
15 |
9,516,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0322:Il7r
|
UTSW |
15 |
9,510,301 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1075:Il7r
|
UTSW |
15 |
9,516,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4364:Il7r
|
UTSW |
15 |
9,513,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4451:Il7r
|
UTSW |
15 |
9,513,034 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5527:Il7r
|
UTSW |
15 |
9,513,010 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5575:Il7r
|
UTSW |
15 |
9,508,273 (GRCm39) |
missense |
probably benign |
|
|
R6949:Il7r
|
UTSW |
15 |
9,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Il7r
|
UTSW |
15 |
9,513,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Il7r
|
UTSW |
15 |
9,508,047 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7682:Il7r
|
UTSW |
15 |
9,513,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Il7r
|
UTSW |
15 |
9,516,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Il7r
|
UTSW |
15 |
9,510,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Il7r
|
UTSW |
15 |
9,510,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Il7r
|
UTSW |
15 |
9,508,143 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGATCAGGTTTATCTGAGC -3'
(R):5'- CAGCTCCGAAGATAGAAAGCTC -3'
Sequencing Primer
(F):5'- GATCAGGTTTATCTGAGCATACATTC -3'
(R):5'- GGACTTTAAAACGTGTAGTTATCAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation