Incidental Mutation 'R8023:Il6ra'
ID 617508
Institutional Source Beutler Lab
Gene Symbol Il6ra
Ensembl Gene ENSMUSG00000027947
Gene Name interleukin 6 receptor, alpha
Synonyms CD126, IL-6 receptor alpha chain, IL-6R, Il6r
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89776631-89820503 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 89820260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029559] [ENSMUST00000029559] [ENSMUST00000197679]
AlphaFold P22272
Predicted Effect probably null
Transcript: ENSMUST00000029559
SMART Domains Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
IGc2 38 99 1.35e-9 SMART
Pfam:IL6Ra-bind 109 210 2.9e-21 PFAM
FN3 213 298 2.18e-2 SMART
transmembrane domain 363 385 N/A INTRINSIC
low complexity region 396 417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000029559
SMART Domains Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
IGc2 38 99 1.35e-9 SMART
Pfam:IL6Ra-bind 109 210 2.9e-21 PFAM
FN3 213 298 2.18e-2 SMART
transmembrane domain 363 385 N/A INTRINSIC
low complexity region 396 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197679
SMART Domains Protein: ENSMUSP00000143541
Gene: ENSMUSG00000027947

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 38 99 5.7e-12 SMART
Pfam:IL6Ra-bind 109 210 6.8e-19 PFAM
FN3 213 298 1.1e-4 SMART
transmembrane domain 362 384 N/A INTRINSIC
low complexity region 395 416 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
H2ac20 A G 3: 96,128,106 (GRCm39) S19P unknown Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Med24 A G 11: 98,609,321 (GRCm39) probably null Het
Mpz A G 1: 170,987,602 (GRCm39) D246G probably damaging Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Ndufs2 A T 1: 171,064,263 (GRCm39) M375K probably damaging Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Pds5a A T 5: 65,795,241 (GRCm39) L665Q probably damaging Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null Het
Other mutations in Il6ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Il6ra APN 3 89,793,350 (GRCm39) missense probably damaging 0.97
IGL02198:Il6ra APN 3 89,797,655 (GRCm39) missense probably benign 0.07
IGL02363:Il6ra APN 3 89,778,560 (GRCm39) missense probably benign 0.00
IGL03109:Il6ra APN 3 89,784,165 (GRCm39) nonsense probably null
R0105:Il6ra UTSW 3 89,784,125 (GRCm39) missense probably damaging 1.00
R0569:Il6ra UTSW 3 89,785,149 (GRCm39) critical splice donor site probably null
R0926:Il6ra UTSW 3 89,794,376 (GRCm39) missense probably damaging 0.99
R1837:Il6ra UTSW 3 89,797,579 (GRCm39) missense probably benign 0.00
R1838:Il6ra UTSW 3 89,797,579 (GRCm39) missense probably benign 0.00
R3147:Il6ra UTSW 3 89,793,235 (GRCm39) missense probably benign 0.29
R4478:Il6ra UTSW 3 89,797,597 (GRCm39) missense probably damaging 1.00
R5470:Il6ra UTSW 3 89,793,302 (GRCm39) missense probably benign 0.05
R5572:Il6ra UTSW 3 89,778,589 (GRCm39) missense probably damaging 1.00
R6169:Il6ra UTSW 3 89,778,598 (GRCm39) missense probably benign 0.15
R6300:Il6ra UTSW 3 89,794,436 (GRCm39) missense probably damaging 0.97
R6543:Il6ra UTSW 3 89,784,170 (GRCm39) missense probably damaging 1.00
R7129:Il6ra UTSW 3 89,778,554 (GRCm39) missense probably damaging 0.99
R8682:Il6ra UTSW 3 89,793,976 (GRCm39) missense possibly damaging 0.88
R8997:Il6ra UTSW 3 89,794,418 (GRCm39) missense probably damaging 1.00
R9697:Il6ra UTSW 3 89,785,219 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTAACTGGCCAGACACAGACAG -3'
(R):5'- TCACGTGCATGTGGGAAGTC -3'

Sequencing Primer
(F):5'- CAGGAGCACGCAGTTATAGGC -3'
(R):5'- ATGTGGGAAGTCGCGCC -3'
Posted On 2020-01-23