Incidental Mutation 'R6234:Il21r'
ID 526452
Institutional Source Beutler Lab
Gene Symbol Il21r
Ensembl Gene ENSMUSG00000030745
Gene Name interleukin 21 receptor
Synonyms NILR
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6234 (G1)
Quality Score 78.0075
Status Validated
Chromosome 7
Chromosomal Location 125202601-125232742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125231757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 395 (D395G)
Ref Sequence ENSEMBL: ENSMUSP00000033000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033000] [ENSMUST00000206103] [ENSMUST00000206234]
AlphaFold Q9JHX3
Predicted Effect probably damaging
Transcript: ENSMUST00000033000
AA Change: D395G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033000
Gene: ENSMUSG00000030745
AA Change: D395G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FN3 120 209 3.4e0 SMART
low complexity region 239 250 N/A INTRINSIC
low complexity region 307 312 N/A INTRINSIC
low complexity region 424 450 N/A INTRINSIC
low complexity region 466 481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206103
Predicted Effect probably benign
Transcript: ENSMUST00000206234
Meta Mutation Damage Score 0.1555 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
Other mutations in Il21r
AlleleSourceChrCoordTypePredicted EffectPPH 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
Predicted Primers PCR Primer
(F):5'- CCAAGGAGAAGAAGTTCCCG -3'
(R):5'- CTTCCTTTGCAAATGACAGCC -3'

Sequencing Primer
(F):5'- CAACTGGAGTGTGATGGAATGTC -3'
(R):5'- CTCAACCTGTCCAGTAGGCTG -3'
Posted On 2018-06-28