Incidental Mutation 'IGL01480:Il22ra1'
ID88568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il22ra1
Ensembl Gene ENSMUSG00000037157
Gene Nameinterleukin 22 receptor, alpha 1
SynonymsIl22r
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01480
Quality Score
Status
Chromosome4
Chromosomal Location135728172-135752140 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135744801 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 216 (V216A)
Ref Sequence ENSEMBL: ENSMUSP00000099605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102546]
Predicted Effect probably benign
Transcript: ENSMUST00000102546
AA Change: V216A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099605
Gene: ENSMUSG00000037157
AA Change: V216A

DomainStartEndE-ValueType
Pfam:Tissue_fac 4 106 1.1e-29 PFAM
Pfam:Interfer-bind 119 214 7.5e-7 PFAM
transmembrane domain 227 249 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Bbs1 T C 19: 4,894,393 K403E probably damaging Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Cyba T C 8: 122,424,945 E171G probably benign Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Olfr975 G A 9: 39,949,988 A261V probably benign Het
Optn G A 2: 5,046,018 S184L probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Serpina11 T A 12: 103,982,851 K354* probably null Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign Het
Other mutations in Il22ra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Il22ra1 APN 4 135751084 missense possibly damaging 0.84
IGL02533:Il22ra1 APN 4 135744723 missense possibly damaging 0.94
R0137:Il22ra1 UTSW 4 135751006 missense probably benign 0.00
R0196:Il22ra1 UTSW 4 135734245 missense possibly damaging 0.67
R1647:Il22ra1 UTSW 4 135750460 missense probably damaging 0.98
R1800:Il22ra1 UTSW 4 135748160 missense probably benign 0.10
R1901:Il22ra1 UTSW 4 135750908 missense probably damaging 1.00
R1902:Il22ra1 UTSW 4 135750908 missense probably damaging 1.00
R1903:Il22ra1 UTSW 4 135750908 missense probably damaging 1.00
R1906:Il22ra1 UTSW 4 135751233 missense probably damaging 1.00
R4278:Il22ra1 UTSW 4 135750713 missense possibly damaging 0.93
R4404:Il22ra1 UTSW 4 135737431 missense possibly damaging 0.56
R5001:Il22ra1 UTSW 4 135733104 missense probably damaging 1.00
R6666:Il22ra1 UTSW 4 135750461 missense probably damaging 0.98
R7054:Il22ra1 UTSW 4 135751162 missense probably benign 0.00
Posted On2013-11-18