Incidental Mutation 'R8394:Il7r'
ID |
647540 |
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 |
067758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R8394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9505874-9530262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9516504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 99
(F99S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003981]
[ENSMUST00000228782]
|
AlphaFold |
P16872 |
PDB Structure |
Cytokine receptor complex - Crystal form 1A [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 1B [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 2 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003981
AA Change: F99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003981 Gene: ENSMUSG00000003882 AA Change: F99S
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 damaging
Transcript: ENSMUST00000228782
AA Change: F99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
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 |
1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
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 |
R8467:Il7r
|
UTSW |
15 |
9,512,973 (GRCm39) |
missense |
probably benign |
0.32 |
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'- AGGAACTCATGATTCCAACATCAG -3'
(R):5'- TGCTGACTTATGTACCTGTAGAC -3'
Sequencing Primer
(F):5'- ACTCATGATTCCAACATCAGATTTTC -3'
(R):5'- CAGAAAATCCTACCTAAATGAAG -3'
|
Posted On |
2020-09-02 |