Incidental Mutation 'IGL01094:Il22ra1'
ID50886
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 #IGL01094
Quality Score
Status
Chromosome4
Chromosomal Location135728172-135752140 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 135751084 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 489 (P489T)
Ref Sequence ENSEMBL: ENSMUSP00000099605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102546]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102546
AA Change: P489T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099605
Gene: ENSMUSG00000037157
AA Change: P489T

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss A T 1: 177,784,942 H80Q probably damaging Het
Ahi1 A G 10: 20,972,060 N456D probably damaging Het
Alpk2 T G 18: 65,306,602 E573D probably damaging Het
Axin2 G A 11: 108,923,675 V130M probably damaging Het
Cadm4 T C 7: 24,502,759 L341P possibly damaging Het
Col20a1 G A 2: 180,999,766 C625Y probably damaging Het
Col6a3 T G 1: 90,803,933 I1533L possibly damaging Het
Dusp10 A T 1: 184,037,500 probably null Het
Dysf T A 6: 84,194,386 I1837N probably damaging Het
Fbxw19 A G 9: 109,493,546 S119P probably benign Het
Gm10334 A G 6: 41,443,423 V123A possibly damaging Het
Il7r A T 15: 9,507,999 N412K possibly damaging Het
Kdr A T 5: 75,961,760 Y502N probably benign Het
Med12l T A 3: 59,093,655 L713H probably damaging Het
Nfxl1 A G 5: 72,550,428 probably benign Het
Olfr1242 A G 2: 89,493,838 V158A probably benign Het
Piezo1 T A 8: 122,482,138 E2495D probably damaging Het
Pkhd1l1 T C 15: 44,546,929 F2611L probably benign Het
Pld2 T C 11: 70,541,306 C84R probably damaging Het
Scfd2 G T 5: 74,531,046 P192T possibly damaging Het
Tm4sf19 A G 16: 32,405,954 N40S possibly damaging Het
Tmc2 T C 2: 130,260,166 probably benign Het
Tmem217 T C 17: 29,526,592 R55G probably benign Het
Unc80 A G 1: 66,695,433 D3205G possibly damaging Het
Vps13c A G 9: 67,886,284 N440D probably damaging Het
Wdr35 T C 12: 9,005,838 probably benign Het
Zfp110 T A 7: 12,849,796 H790Q probably damaging Het
Other mutations in Il22ra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Il22ra1 APN 4 135744801 missense probably benign 0.03
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
R7615:Il22ra1 UTSW 4 135737459 missense probably benign 0.16
R7644:Il22ra1 UTSW 4 135733035 missense probably damaging 1.00
R7754:Il22ra1 UTSW 4 135734250 missense probably benign 0.01
R7808:Il22ra1 UTSW 4 135750796 missense possibly damaging 0.93
R8024:Il22ra1 UTSW 4 135734278 missense probably benign 0.43
Z1177:Il22ra1 UTSW 4 135737406 missense probably damaging 1.00
Posted On2013-06-21