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 for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] PHENOTYPE: Homozygous null mutation of this gene results in decreased immunoglobulin levels, decreased Th17 T cell differentation, and decreased production of IL-17. [provided by MGI curators]
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Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
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Other mutations in Il21r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00552:Il21r
|
APN |
7 |
125,231,697 (GRCm39) |
missense |
probably damaging |
1.00 |
bellflower
|
UTSW |
7 |
125,227,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0409:Il21r
|
UTSW |
7 |
125,229,012 (GRCm39) |
intron |
probably benign |
|
R0573:Il21r
|
UTSW |
7 |
125,224,457 (GRCm39) |
missense |
probably benign |
0.06 |
R0635:Il21r
|
UTSW |
7 |
125,231,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Il21r
|
UTSW |
7 |
125,228,153 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1969:Il21r
|
UTSW |
7 |
125,228,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R3716:Il21r
|
UTSW |
7 |
125,231,441 (GRCm39) |
missense |
probably damaging |
0.96 |
R3968:Il21r
|
UTSW |
7 |
125,227,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4546:Il21r
|
UTSW |
7 |
125,228,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Il21r
|
UTSW |
7 |
125,232,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R5566:Il21r
|
UTSW |
7 |
125,224,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Il21r
|
UTSW |
7 |
125,231,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R6259:Il21r
|
UTSW |
7 |
125,229,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6896:Il21r
|
UTSW |
7 |
125,226,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Il21r
|
UTSW |
7 |
125,231,483 (GRCm39) |
missense |
probably benign |
0.00 |
R7263:Il21r
|
UTSW |
7 |
125,232,077 (GRCm39) |
missense |
probably benign |
0.04 |
R7740:Il21r
|
UTSW |
7 |
125,231,727 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8881:Il21r
|
UTSW |
7 |
125,231,498 (GRCm39) |
missense |
probably benign |
0.11 |
R9019:Il21r
|
UTSW |
7 |
125,231,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R9182:Il21r
|
UTSW |
7 |
125,228,213 (GRCm39) |
missense |
probably benign |
|
R9327:Il21r
|
UTSW |
7 |
125,226,163 (GRCm39) |
missense |
unknown |
|
R9559:Il21r
|
UTSW |
7 |
125,232,027 (GRCm39) |
missense |
probably damaging |
0.99 |
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