Incidental Mutation 'IGL01916:Il10ra'
ID 179935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il10ra
Ensembl Gene ENSMUSG00000032089
Gene Name interleukin 10 receptor, alpha
Synonyms Il10r, mIL-10R, CDw210
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01916
Quality Score
Status
Chromosome 9
Chromosomal Location 45165135-45180447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45167444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 369 (L369Q)
Ref Sequence ENSEMBL: ENSMUSP00000135461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034594] [ENSMUST00000176222] [ENSMUST00000176808]
AlphaFold Q61727
Predicted Effect probably damaging
Transcript: ENSMUST00000034594
AA Change: L371Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034594
Gene: ENSMUSG00000032089
AA Change: L371Q

DomainStartEndE-ValueType
Pfam:Tissue_fac 5 114 3.3e-29 PFAM
SCOP:d1lqsr2 125 231 5e-59 SMART
transmembrane domain 239 261 N/A INTRINSIC
low complexity region 482 491 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176222
AA Change: L369Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135461
Gene: ENSMUSG00000032089
AA Change: L369Q

DomainStartEndE-ValueType
Pfam:Tissue_fac 2 112 3.5e-26 PFAM
SCOP:d1lqsr2 123 229 5e-59 SMART
transmembrane domain 237 259 N/A INTRINSIC
low complexity region 480 489 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176318
Predicted Effect probably benign
Transcript: ENSMUST00000176808
SMART Domains Protein: ENSMUSP00000135361
Gene: ENSMUSG00000032089

DomainStartEndE-ValueType
signal peptide 1 23 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 is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for an ENU-generated null allele suffer from a severe inflammatory bowel syndrome. Mice heterozygote for an NZW variant allele have high sera levels of anti-chromatin antibodies. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,684,937 (GRCm39) T187A probably damaging Het
A430005L14Rik C A 4: 154,045,997 (GRCm39) F214L possibly damaging Het
A830018L16Rik C A 1: 11,818,331 (GRCm39) probably benign Het
Adgrd1 T C 5: 129,209,902 (GRCm39) S342P probably benign Het
Aldh4a1 A G 4: 139,371,457 (GRCm39) Y457C probably damaging Het
Ankrd7 A T 6: 18,868,250 (GRCm39) E124V possibly damaging Het
Atad5 T A 11: 80,003,665 (GRCm39) probably null Het
Card14 T C 11: 119,233,971 (GRCm39) Y854H probably benign Het
Ccdc85c T C 12: 108,174,103 (GRCm39) H355R probably damaging Het
Ccr3 T A 9: 123,829,589 (GRCm39) V308D probably damaging Het
Cep170 T C 1: 176,567,476 (GRCm39) probably benign Het
Cmtr2 C A 8: 110,948,580 (GRCm39) Q297K probably benign Het
Col19a1 A C 1: 24,573,322 (GRCm39) L150R unknown Het
Cwf19l2 T C 9: 3,477,869 (GRCm39) I858T possibly damaging Het
Cyp39a1 C T 17: 44,041,941 (GRCm39) P383S probably damaging Het
Ddi2 C T 4: 141,422,709 (GRCm39) probably benign Het
Dnah17 T G 11: 118,016,114 (GRCm39) I342L probably benign Het
Efhc1 T C 1: 21,048,973 (GRCm39) I462T probably damaging Het
Ephx4 A T 5: 107,553,896 (GRCm39) probably null Het
Fam193b A G 13: 55,698,031 (GRCm39) probably benign Het
Fbn1 T C 2: 125,157,366 (GRCm39) N2306D possibly damaging Het
Folr1 A T 7: 101,507,947 (GRCm39) H164Q probably benign Het
Fut10 T C 8: 31,725,734 (GRCm39) V163A probably benign Het
Gal3st4 G A 5: 138,269,197 (GRCm39) R83C probably damaging Het
Galnt16 T C 12: 80,639,264 (GRCm39) probably null Het
Gata5 G A 2: 179,968,734 (GRCm39) S380F possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm4787 A T 12: 81,424,218 (GRCm39) L647M probably benign Het
Gvin3 T G 7: 106,201,033 (GRCm39) H737P probably benign Het
Hcfc2 A G 10: 82,570,217 (GRCm39) K523E possibly damaging Het
Ift70a1 C A 2: 75,811,223 (GRCm39) V287L probably damaging Het
Igkv6-15 A T 6: 70,383,458 (GRCm39) Y114* probably null Het
Il6st A G 13: 112,616,606 (GRCm39) K51R possibly damaging Het
Kif26a C T 12: 112,143,328 (GRCm39) P1194L possibly damaging Het
Kntc1 T G 5: 123,939,976 (GRCm39) L1590R probably damaging Het
Lipo3 G T 19: 33,762,182 (GRCm39) A105E probably damaging Het
Macf1 T A 4: 123,335,423 (GRCm39) S4382C probably damaging Het
Macf1 C T 4: 123,369,830 (GRCm39) E79K probably damaging Het
Nmnat2 T C 1: 152,969,792 (GRCm39) I195T probably damaging Het
Or11g25 A G 14: 50,722,950 (GRCm39) T12A probably benign Het
Pcdhb13 A G 18: 37,576,914 (GRCm39) T431A possibly damaging Het
Pcgf3 G A 5: 108,634,045 (GRCm39) G101D probably benign Het
Phip T C 9: 82,772,522 (GRCm39) D1070G possibly damaging Het
Ren1 A G 1: 133,286,150 (GRCm39) H231R probably benign Het
Sox9 C A 11: 112,675,500 (GRCm39) Q230K probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stard9 T A 2: 120,498,497 (GRCm39) Y154N probably damaging Het
Thnsl1 A T 2: 21,217,476 (GRCm39) N410I possibly damaging Het
Tnfrsf21 A T 17: 43,350,694 (GRCm39) E286V probably benign Het
Trbv13-1 A G 6: 41,093,246 (GRCm39) R60G probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wrn T A 8: 33,747,252 (GRCm39) I1110F possibly damaging Het
Zfp777 G T 6: 48,002,276 (GRCm39) R649S probably damaging Het
Zmym6 T A 4: 127,017,549 (GRCm39) I1110N probably damaging Het
Other mutations in Il10ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01874:Il10ra APN 9 45,178,458 (GRCm39) missense probably damaging 1.00
IGL03067:Il10ra APN 9 45,167,157 (GRCm39) missense probably benign 0.01
R0081:Il10ra UTSW 9 45,167,247 (GRCm39) missense probably benign 0.04
R0266:Il10ra UTSW 9 45,176,950 (GRCm39) missense probably benign 0.11
R1734:Il10ra UTSW 9 45,167,241 (GRCm39) missense probably benign 0.02
R1901:Il10ra UTSW 9 45,167,654 (GRCm39) missense probably benign 0.39
R1991:Il10ra UTSW 9 45,167,109 (GRCm39) missense probably benign 0.28
R2103:Il10ra UTSW 9 45,167,109 (GRCm39) missense probably benign 0.28
R2218:Il10ra UTSW 9 45,176,914 (GRCm39) missense probably benign
R4686:Il10ra UTSW 9 45,180,357 (GRCm39) missense probably damaging 1.00
R4908:Il10ra UTSW 9 45,166,919 (GRCm39) missense probably benign 0.21
R4982:Il10ra UTSW 9 45,180,357 (GRCm39) missense probably damaging 1.00
R5590:Il10ra UTSW 9 45,176,924 (GRCm39) nonsense probably null
R5739:Il10ra UTSW 9 45,167,368 (GRCm39) missense possibly damaging 0.65
R5872:Il10ra UTSW 9 45,166,951 (GRCm39) missense possibly damaging 0.92
R6053:Il10ra UTSW 9 45,167,601 (GRCm39) missense probably damaging 0.99
R6282:Il10ra UTSW 9 45,171,703 (GRCm39) missense probably damaging 0.98
R6798:Il10ra UTSW 9 45,167,730 (GRCm39) missense probably damaging 0.99
R7060:Il10ra UTSW 9 45,167,522 (GRCm39) missense probably benign 0.00
R7561:Il10ra UTSW 9 45,167,117 (GRCm39) missense probably benign 0.00
R7630:Il10ra UTSW 9 45,167,369 (GRCm39) missense probably damaging 1.00
R7709:Il10ra UTSW 9 45,171,697 (GRCm39) missense probably benign 0.01
R8880:Il10ra UTSW 9 45,175,631 (GRCm39) missense probably damaging 1.00
R8939:Il10ra UTSW 9 45,177,802 (GRCm39) missense unknown
R9069:Il10ra UTSW 9 45,167,396 (GRCm39) missense probably damaging 0.98
R9511:Il10ra UTSW 9 45,167,690 (GRCm39) missense probably benign 0.06
Z1176:Il10ra UTSW 9 45,177,930 (GRCm39) missense possibly damaging 0.66
Posted On 2014-05-07