Incidental Mutation 'R5572:Il6ra'
ID 435712
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 043266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5572 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89776631-89820503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89778589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 420 (V420D)
Ref Sequence ENSEMBL: ENSMUSP00000143541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029559] [ENSMUST00000197679]
AlphaFold P22272
Predicted Effect probably damaging
Transcript: ENSMUST00000029559
AA Change: V421D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029559
Gene: ENSMUSG00000027947
AA Change: V421D

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 damaging
Transcript: ENSMUST00000197679
AA Change: V420D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143541
Gene: ENSMUSG00000027947
AA Change: V420D

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
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,765,108 (GRCm39) probably null Het
Abcd4 T C 12: 84,653,050 (GRCm39) D380G probably benign Het
Actr3b T A 5: 26,014,886 (GRCm39) D68E probably benign Het
Apol10a T C 15: 77,372,834 (GRCm39) S157P probably damaging Het
Arap3 A T 18: 38,124,119 (GRCm39) I327N probably damaging Het
Arnt G T 3: 95,382,015 (GRCm39) V198L possibly damaging Het
Baiap3 T A 17: 25,470,449 (GRCm39) D86V possibly damaging Het
Bcl9l G T 9: 44,412,095 (GRCm39) R27L possibly damaging Het
Bltp2 A T 11: 78,155,393 (GRCm39) D167V probably damaging Het
C1qc T C 4: 136,619,773 (GRCm39) Y34C probably benign Het
C1rb T C 6: 124,557,758 (GRCm39) S632P probably benign Het
C3 A G 17: 57,531,673 (GRCm39) S284P probably damaging Het
Cfap44 T G 16: 44,301,668 (GRCm39) V1802G possibly damaging Het
Cfhr1 A G 1: 139,484,165 (GRCm39) V117A possibly damaging Het
Clca3b T C 3: 144,533,070 (GRCm39) D654G probably damaging Het
Col17a1 A T 19: 47,639,168 (GRCm39) S1126T probably benign Het
Cts3 T A 13: 61,712,782 (GRCm39) I313F probably damaging Het
Egfl7 T C 2: 26,481,703 (GRCm39) V6A possibly damaging Het
Eif2s3y G A Y: 1,016,631 (GRCm39) D272N probably damaging Het
Foxp4 A G 17: 48,191,804 (GRCm39) V111A unknown Het
Hmcn2 A T 2: 31,304,537 (GRCm39) probably null Het
Hmcn2 G A 2: 31,304,538 (GRCm39) probably null Het
Igsf11 C T 16: 38,845,294 (GRCm39) R283C probably damaging Het
Il1a A G 2: 129,149,838 (GRCm39) Y21H possibly damaging Het
Kdm5a T C 6: 120,389,336 (GRCm39) V921A possibly damaging Het
Kirrel3 G A 9: 34,912,244 (GRCm39) A196T probably damaging Het
Klra1 T A 6: 130,349,802 (GRCm39) D212V possibly damaging Het
N4bp2l2 G A 5: 150,585,755 (GRCm39) T75I probably benign Het
Niban1 T C 1: 151,584,941 (GRCm39) S513P probably benign Het
Nnmt A G 9: 48,503,447 (GRCm39) L193P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Ntm A G 9: 28,925,512 (GRCm39) I191T probably damaging Het
Or2ak5 A G 11: 58,611,055 (GRCm39) V273A probably benign Het
Or52d13 A C 7: 103,109,905 (GRCm39) L170R probably benign Het
Or52h7 A T 7: 104,214,201 (GRCm39) T258S probably benign Het
Pam A C 1: 97,782,469 (GRCm39) probably benign Het
Pomk T A 8: 26,473,218 (GRCm39) H245L possibly damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rasip1 G T 7: 45,286,153 (GRCm39) R792L probably benign Het
Ret T C 6: 118,132,392 (GRCm39) Y1016C probably damaging Het
Rhbdd1 A T 1: 82,318,531 (GRCm39) N138I possibly damaging Het
Snx13 T G 12: 35,153,119 (GRCm39) V383G probably damaging Het
Syt3 A G 7: 44,040,142 (GRCm39) H125R probably benign Het
Tlr6 A T 5: 65,112,361 (GRCm39) L182Q probably damaging Het
Tlr9 T C 9: 106,102,836 (GRCm39) V709A possibly damaging Het
Tmprss6 T C 15: 78,326,622 (GRCm39) Y655C probably damaging Het
Ttn A T 2: 76,683,972 (GRCm39) probably benign Het
Ube3a T C 7: 58,938,525 (GRCm39) I761T probably damaging Het
Ube3b G A 5: 114,544,240 (GRCm39) D546N probably damaging Het
Ugt2b36 A G 5: 87,237,341 (GRCm39) V188A possibly damaging Het
Usp29 A G 7: 6,965,191 (GRCm39) I345V probably benign Het
Vmn2r78 A G 7: 86,564,720 (GRCm39) K55R probably benign Het
Wdsub1 A G 2: 59,693,051 (GRCm39) F288L possibly damaging Het
Zan C T 5: 137,392,693 (GRCm39) V4601M unknown Het
Zbtb8b T C 4: 129,322,334 (GRCm39) K376E probably damaging Het
Zfp619 A T 7: 39,184,663 (GRCm39) Y231F probably benign 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
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
R8023:Il6ra UTSW 3 89,820,260 (GRCm39) critical splice donor site probably null
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'- CCCGCATGAGAAACTTGTGTG -3'
(R):5'- GGCATTTCTGTAAGCCAAACC -3'

Sequencing Primer
(F):5'- CATGAGAAACTTGTGTGCTGATCTC -3'
(R):5'- GCTGCAGATAGGGTTTCTCACC -3'
Posted On 2016-10-24