Incidental Mutation 'R3003:Il27ra'
ID 257364
Institutional Source Beutler Lab
Gene Symbol Il27ra
Ensembl Gene ENSMUSG00000005465
Gene Name interleukin 27 receptor, alpha
Synonyms WSX-1, IL-27R, Tccr
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84756923-84769218 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 84758660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 499 (S499*)
Ref Sequence ENSEMBL: ENSMUSP00000005601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000055077]
AlphaFold O70394
Predicted Effect probably null
Transcript: ENSMUST00000005601
AA Change: S499*
SMART Domains Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: S499*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:FN3 31 101 2e-6 BLAST
FN3 123 210 3.85e-3 SMART
FN3 314 396 3.78e0 SMART
Blast:FN3 411 492 4e-36 BLAST
low complexity region 516 532 N/A INTRINSIC
low complexity region 584 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055077
SMART Domains Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986

DomainStartEndE-ValueType
coiled coil region 19 64 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
coiled coil region 90 116 N/A INTRINSIC
low complexity region 167 178 N/A INTRINSIC
low complexity region 248 261 N/A INTRINSIC
low complexity region 277 293 N/A INTRINSIC
low complexity region 337 349 N/A INTRINSIC
low complexity region 399 416 N/A INTRINSIC
low complexity region 635 647 N/A INTRINSIC
low complexity region 707 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210245
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adh6b G T 3: 138,063,532 (GRCm39) L248F possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Clptm1l C T 13: 73,765,875 (GRCm39) T471I possibly damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Other mutations in Il27ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02873:Il27ra APN 8 84,758,164 (GRCm39) missense probably benign 0.01
IGL03096:Il27ra APN 8 84,758,161 (GRCm39) missense probably damaging 1.00
IGL03334:Il27ra APN 8 84,757,751 (GRCm39) missense probably benign 0.08
angel UTSW 8 84,758,773 (GRCm39) critical splice acceptor site probably null
Gabriel UTSW 8 84,760,614 (GRCm39) missense probably damaging 0.97
Hanger UTSW 8 84,767,720 (GRCm39) critical splice acceptor site probably null
herald UTSW 8 84,760,578 (GRCm39) critical splice donor site probably null
R0133:Il27ra UTSW 8 84,760,571 (GRCm39) unclassified probably benign
R0526:Il27ra UTSW 8 84,766,128 (GRCm39) missense probably benign 0.37
R2914:Il27ra UTSW 8 84,758,242 (GRCm39) unclassified probably benign
R3001:Il27ra UTSW 8 84,758,660 (GRCm39) nonsense probably null
R3002:Il27ra UTSW 8 84,758,660 (GRCm39) nonsense probably null
R3851:Il27ra UTSW 8 84,767,317 (GRCm39) missense probably benign 0.00
R3978:Il27ra UTSW 8 84,767,313 (GRCm39) missense probably benign 0.11
R4589:Il27ra UTSW 8 84,763,038 (GRCm39) missense probably damaging 1.00
R4997:Il27ra UTSW 8 84,766,156 (GRCm39) nonsense probably null
R5133:Il27ra UTSW 8 84,760,688 (GRCm39) missense possibly damaging 0.71
R5955:Il27ra UTSW 8 84,767,451 (GRCm39) missense probably benign 0.05
R6153:Il27ra UTSW 8 84,758,773 (GRCm39) critical splice acceptor site probably null
R6489:Il27ra UTSW 8 84,758,179 (GRCm39) missense probably benign 0.02
R7465:Il27ra UTSW 8 84,766,241 (GRCm39) missense probably benign 0.00
R7828:Il27ra UTSW 8 84,758,187 (GRCm39) missense probably damaging 1.00
R7890:Il27ra UTSW 8 84,760,614 (GRCm39) missense probably damaging 0.97
R8051:Il27ra UTSW 8 84,760,578 (GRCm39) critical splice donor site probably null
R8137:Il27ra UTSW 8 84,767,720 (GRCm39) critical splice acceptor site probably null
R8335:Il27ra UTSW 8 84,766,130 (GRCm39) missense probably damaging 0.96
R8473:Il27ra UTSW 8 84,768,735 (GRCm39) missense probably benign 0.00
R8755:Il27ra UTSW 8 84,765,988 (GRCm39) missense probably damaging 1.00
R8963:Il27ra UTSW 8 84,767,711 (GRCm39) missense probably damaging 1.00
X0013:Il27ra UTSW 8 84,768,788 (GRCm39) missense probably benign 0.21
Z1176:Il27ra UTSW 8 84,767,619 (GRCm39) missense probably damaging 1.00
Z1177:Il27ra UTSW 8 84,767,604 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGTGTTGGATACTGCAATGGC -3'
(R):5'- TGTCATGGCATGCCTATGAGG -3'

Sequencing Primer
(F):5'- GCATTTAGCAGAAGCAGACCTG -3'
(R):5'- TGACCAGGACAGAACTGTGTG -3'
Posted On 2015-01-11