Incidental Mutation 'R5086:Il21r'
ID 387442
Institutional Source Beutler Lab
Gene Symbol Il21r
Ensembl Gene ENSMUSG00000030745
Gene Name interleukin 21 receptor
Synonyms NILR
MMRRC Submission 042675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5086 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125202601-125232742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125232027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 485 (D485G)
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: D485G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033000
Gene: ENSMUSG00000030745
AA Change: D485G

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 0.1580 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
Asb1 A G 1: 91,482,533 (GRCm39) Y214C probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Inpp5d A G 1: 87,633,686 (GRCm39) H441R probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Mrps18a T A 17: 46,436,621 (GRCm39) D143E probably benign Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sec22a G T 16: 35,168,112 (GRCm39) S133* probably null Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) probably benign 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
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
R6234:Il21r UTSW 7 125,231,757 (GRCm39) missense probably damaging 1.00
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'- GTCTGGCCCTAATTCAGAGGATC -3'
(R):5'- GGCCTCTTCTCACTATAGCTGG -3'

Sequencing Primer
(F):5'- AGGATCTGCTCTTGGTCACAGAC -3'
(R):5'- AGCTGGTTATTATATGCTAGCTGCTC -3'
Posted On 2016-06-06