Incidental Mutation 'IGL02879:Il4ra'
ID 362739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il4ra
Ensembl Gene ENSMUSG00000030748
Gene Name interleukin 4 receptor, alpha
Synonyms IL-4 receptor alpha chain, CD124, Il4r
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02879
Quality Score
Status
Chromosome 7
Chromosomal Location 125151443-125178646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125176069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 759 (E759G)
Ref Sequence ENSEMBL: ENSMUSP00000033004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033004] [ENSMUST00000206846]
AlphaFold P16382
Predicted Effect possibly damaging
Transcript: ENSMUST00000033004
AA Change: E759G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: E759G

DomainStartEndE-ValueType
Pfam:IL4Ra_N 28 122 9.9e-39 PFAM
FN3 124 211 3.14e0 SMART
low complexity region 369 385 N/A INTRINSIC
low complexity region 562 574 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 635 647 N/A INTRINSIC
low complexity region 674 683 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206681
Predicted Effect probably benign
Transcript: ENSMUST00000206846
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,659,966 (GRCm39) Y245C probably damaging Het
Asb3 G A 11: 31,051,067 (GRCm39) R507H probably damaging Het
Cacna1g A C 11: 94,300,431 (GRCm39) I2118S probably benign Het
Col3a1 A T 1: 45,380,119 (GRCm39) probably benign Het
Ecscr T C 18: 35,846,731 (GRCm39) N221S possibly damaging Het
Enpp4 T C 17: 44,412,841 (GRCm39) D231G probably benign Het
Fastkd5 A G 2: 130,456,341 (GRCm39) Y750H probably damaging Het
Gm42688 A G 6: 83,084,125 (GRCm39) Y510C probably damaging Het
Gtse1 T C 15: 85,753,264 (GRCm39) probably benign Het
Itgb4 A G 11: 115,885,178 (GRCm39) D1019G probably benign Het
Kcnh1 T C 1: 191,959,223 (GRCm39) V259A probably damaging Het
Ksr1 G A 11: 78,965,270 (GRCm39) L15F probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Myh15 A T 16: 48,993,422 (GRCm39) T1686S possibly damaging Het
Neb A C 2: 52,146,697 (GRCm39) L2856V possibly damaging Het
Nkapd1 C T 9: 50,520,671 (GRCm39) probably null Het
Pcnx2 A T 8: 126,498,796 (GRCm39) C1568S probably damaging Het
Pld5 T A 1: 175,798,157 (GRCm39) K352I probably damaging Het
Prmt3 A G 7: 49,467,811 (GRCm39) D339G probably benign Het
Ptbp2 A G 3: 119,534,054 (GRCm39) Y272H probably damaging Het
Ptprb A G 10: 116,163,873 (GRCm39) D847G probably benign Het
Rin1 C T 19: 5,101,383 (GRCm39) T89I probably damaging Het
Runx1t1 T C 4: 13,889,868 (GRCm39) I599T unknown Het
Serinc3 A G 2: 163,474,172 (GRCm39) probably benign Het
Slc27a5 C T 7: 12,728,971 (GRCm39) probably benign Het
Terf2 C T 8: 107,803,329 (GRCm39) S417N probably benign Het
Tyw1 T C 5: 130,325,612 (GRCm39) V500A probably damaging Het
Upk1b G A 16: 38,596,640 (GRCm39) probably benign Het
Vmn1r81 C T 7: 11,994,319 (GRCm39) M96I probably benign Het
Vmn2r11 A T 5: 109,201,704 (GRCm39) Y267N possibly damaging Het
Other mutations in Il4ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Il4ra APN 7 125,168,347 (GRCm39) critical splice donor site probably null
IGL01067:Il4ra APN 7 125,174,333 (GRCm39) missense probably benign 0.09
IGL01107:Il4ra APN 7 125,175,086 (GRCm39) missense possibly damaging 0.88
IGL02224:Il4ra APN 7 125,169,271 (GRCm39) splice site probably benign
IGL02249:Il4ra APN 7 125,166,396 (GRCm39) missense probably benign 0.01
IGL02383:Il4ra APN 7 125,170,676 (GRCm39) missense probably benign 0.06
IGL02614:Il4ra APN 7 125,174,962 (GRCm39) nonsense probably null
Haile UTSW 7 125,173,889 (GRCm39) critical splice donor site probably null
Lowe UTSW 7 125,166,393 (GRCm39) missense probably damaging 1.00
BB006:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
BB016:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
IGL02991:Il4ra UTSW 7 125,174,833 (GRCm39) missense possibly damaging 0.70
PIT4418001:Il4ra UTSW 7 125,175,510 (GRCm39) missense probably benign 0.01
R0066:Il4ra UTSW 7 125,175,403 (GRCm39) missense possibly damaging 0.80
R0127:Il4ra UTSW 7 125,168,242 (GRCm39) missense probably damaging 1.00
R0148:Il4ra UTSW 7 125,174,709 (GRCm39) missense probably damaging 1.00
R0238:Il4ra UTSW 7 125,174,371 (GRCm39) splice site probably benign
R0239:Il4ra UTSW 7 125,174,371 (GRCm39) splice site probably benign
R0884:Il4ra UTSW 7 125,173,835 (GRCm39) missense probably damaging 1.00
R1102:Il4ra UTSW 7 125,173,889 (GRCm39) critical splice donor site probably null
R1622:Il4ra UTSW 7 125,169,225 (GRCm39) missense possibly damaging 0.87
R1773:Il4ra UTSW 7 125,166,354 (GRCm39) missense possibly damaging 0.94
R4510:Il4ra UTSW 7 125,175,280 (GRCm39) missense possibly damaging 0.63
R4511:Il4ra UTSW 7 125,175,280 (GRCm39) missense possibly damaging 0.63
R4612:Il4ra UTSW 7 125,175,255 (GRCm39) missense probably benign 0.14
R5865:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
R5996:Il4ra UTSW 7 125,166,393 (GRCm39) missense probably damaging 1.00
R6057:Il4ra UTSW 7 125,170,735 (GRCm39) missense probably damaging 1.00
R6246:Il4ra UTSW 7 125,175,577 (GRCm39) missense probably benign 0.00
R7218:Il4ra UTSW 7 125,174,950 (GRCm39) missense probably benign 0.01
R7624:Il4ra UTSW 7 125,168,280 (GRCm39) missense probably damaging 1.00
R7904:Il4ra UTSW 7 125,164,845 (GRCm39) missense probably benign 0.05
R7929:Il4ra UTSW 7 125,174,348 (GRCm39) missense probably benign 0.00
R8360:Il4ra UTSW 7 125,169,138 (GRCm39) missense probably damaging 1.00
R9573:Il4ra UTSW 7 125,169,158 (GRCm39) missense possibly damaging 0.95
Posted On 2015-12-18