Incidental Mutation 'IGL03334:Il27ra'
ID 416974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il27ra
Ensembl Gene ENSMUSG00000005465
Gene Name interleukin 27 receptor, alpha
Synonyms IL-27R, WSX-1, Tccr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03334
Quality Score
Status
Chromosome 8
Chromosomal Location 84030294-84042589 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84031122 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 594 (V594A)
Ref Sequence ENSEMBL: ENSMUSP00000005601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000055077]
AlphaFold O70394
Predicted Effect probably benign
Transcript: ENSMUST00000005601
AA Change: V594A

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: V594A

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Il27ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02873:Il27ra APN 8 84031535 missense probably benign 0.01
IGL03096:Il27ra APN 8 84031532 missense probably damaging 1.00
angel UTSW 8 84032144 critical splice acceptor site probably null
Gabriel UTSW 8 84033985 missense probably damaging 0.97
Hanger UTSW 8 84041091 critical splice acceptor site probably null
herald UTSW 8 84033949 critical splice donor site probably null
R0133:Il27ra UTSW 8 84033942 unclassified probably benign
R0526:Il27ra UTSW 8 84039499 missense probably benign 0.37
R2914:Il27ra UTSW 8 84031613 unclassified probably benign
R3001:Il27ra UTSW 8 84032031 nonsense probably null
R3002:Il27ra UTSW 8 84032031 nonsense probably null
R3003:Il27ra UTSW 8 84032031 nonsense probably null
R3851:Il27ra UTSW 8 84040688 missense probably benign 0.00
R3978:Il27ra UTSW 8 84040684 missense probably benign 0.11
R4589:Il27ra UTSW 8 84036409 missense probably damaging 1.00
R4997:Il27ra UTSW 8 84039527 nonsense probably null
R5133:Il27ra UTSW 8 84034059 missense possibly damaging 0.71
R5955:Il27ra UTSW 8 84040822 missense probably benign 0.05
R6153:Il27ra UTSW 8 84032144 critical splice acceptor site probably null
R6489:Il27ra UTSW 8 84031550 missense probably benign 0.02
R7465:Il27ra UTSW 8 84039612 missense probably benign 0.00
R7828:Il27ra UTSW 8 84031558 missense probably damaging 1.00
R7890:Il27ra UTSW 8 84033985 missense probably damaging 0.97
R8051:Il27ra UTSW 8 84033949 critical splice donor site probably null
R8137:Il27ra UTSW 8 84041091 critical splice acceptor site probably null
R8335:Il27ra UTSW 8 84039501 missense probably damaging 0.96
R8473:Il27ra UTSW 8 84042106 missense probably benign 0.00
R8755:Il27ra UTSW 8 84039359 missense probably damaging 1.00
R8963:Il27ra UTSW 8 84041082 missense probably damaging 1.00
X0013:Il27ra UTSW 8 84042159 missense probably benign 0.21
Z1176:Il27ra UTSW 8 84040990 missense probably damaging 1.00
Z1177:Il27ra UTSW 8 84040975 frame shift probably null
Posted On 2016-08-02