Incidental Mutation 'IGL01094:Il7r'
ID 52792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il7r
Ensembl Gene ENSMUSG00000003882
Gene Name interleukin 7 receptor
Synonyms IL-7 receptor alpha chain, CD127, IL-7Ralpha
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01094
Quality Score
Status
Chromosome 15
Chromosomal Location 9505874-9530262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9508085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 412 (N412K)
Ref Sequence ENSEMBL: ENSMUSP00000003981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003981] [ENSMUST00000228782]
AlphaFold P16872
PDB Structure Cytokine receptor complex - Crystal form 1A [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 1B [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 2 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003981
AA Change: N412K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: N412K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 25 37 N/A INTRINSIC
FN3 129 216 1.09e1 SMART
transmembrane domain 241 263 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227234
Predicted Effect probably benign
Transcript: ENSMUST00000228782
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,612,508 (GRCm39) H80Q probably damaging Het
Ahi1 A G 10: 20,847,959 (GRCm39) N456D probably damaging Het
Alpk2 T G 18: 65,439,673 (GRCm39) E573D probably damaging Het
Axin2 G A 11: 108,814,501 (GRCm39) V130M probably damaging Het
Cadm4 T C 7: 24,202,184 (GRCm39) L341P possibly damaging Het
Col20a1 G A 2: 180,641,559 (GRCm39) C625Y probably damaging Het
Col6a3 T G 1: 90,731,655 (GRCm39) I1533L possibly damaging Het
Dusp10 A T 1: 183,769,697 (GRCm39) probably null Het
Dysf T A 6: 84,171,368 (GRCm39) I1837N probably damaging Het
Fbxw19 A G 9: 109,322,614 (GRCm39) S119P probably benign Het
Il22ra1 C A 4: 135,478,395 (GRCm39) P489T possibly damaging Het
Kdr A T 5: 76,122,420 (GRCm39) Y502N probably benign Het
Med12l T A 3: 59,001,076 (GRCm39) L713H probably damaging Het
Nfxl1 A G 5: 72,707,771 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,182 (GRCm39) V158A probably benign Het
Piezo1 T A 8: 123,208,877 (GRCm39) E2495D probably damaging Het
Pkhd1l1 T C 15: 44,410,325 (GRCm39) F2611L probably benign Het
Pld2 T C 11: 70,432,132 (GRCm39) C84R probably damaging Het
Prss3l A G 6: 41,420,357 (GRCm39) V123A possibly damaging Het
Scfd2 G T 5: 74,691,707 (GRCm39) P192T possibly damaging Het
Tm4sf19 A G 16: 32,224,772 (GRCm39) N40S possibly damaging Het
Tmc2 T C 2: 130,102,086 (GRCm39) probably benign Het
Tmem217 T C 17: 29,745,566 (GRCm39) R55G probably benign Het
Unc80 A G 1: 66,734,592 (GRCm39) D3205G possibly damaging Het
Vps13c A G 9: 67,793,566 (GRCm39) N440D probably damaging Het
Wdr35 T C 12: 9,055,838 (GRCm39) probably benign Het
Zfp110 T A 7: 12,583,723 (GRCm39) H790Q probably damaging Het
Other mutations in Il7r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Il7r APN 15 9,525,195 (GRCm39) missense probably damaging 1.00
IGL01016:Il7r APN 15 9,510,294 (GRCm39) missense probably damaging 0.98
IGL01406:Il7r APN 15 9,508,300 (GRCm39) nonsense probably null
IGL02135:Il7r APN 15 9,508,092 (GRCm39) missense probably benign 0.11
IGL02642:Il7r APN 15 9,513,133 (GRCm39) splice site probably benign
happy UTSW 15 9,508,273 (GRCm39) missense probably benign
R0278:Il7r UTSW 15 9,516,423 (GRCm39) missense probably damaging 0.98
R0322:Il7r UTSW 15 9,510,301 (GRCm39) missense probably benign 0.14
R1075:Il7r UTSW 15 9,516,543 (GRCm39) missense probably benign 0.03
R4364:Il7r UTSW 15 9,513,014 (GRCm39) missense probably damaging 1.00
R4451:Il7r UTSW 15 9,513,034 (GRCm39) missense probably benign 0.13
R5527:Il7r UTSW 15 9,513,010 (GRCm39) missense probably benign 0.21
R5575:Il7r UTSW 15 9,508,273 (GRCm39) missense probably benign
R6949:Il7r UTSW 15 9,508,090 (GRCm39) missense probably damaging 1.00
R7479:Il7r UTSW 15 9,513,117 (GRCm39) missense probably damaging 1.00
R7533:Il7r UTSW 15 9,508,047 (GRCm39) missense probably benign 0.02
R7682:Il7r UTSW 15 9,513,013 (GRCm39) missense probably damaging 1.00
R8394:Il7r UTSW 15 9,516,504 (GRCm39) missense probably damaging 1.00
R8467:Il7r UTSW 15 9,512,973 (GRCm39) missense probably benign 0.32
R9092:Il7r UTSW 15 9,510,270 (GRCm39) missense probably benign 0.01
Z1177:Il7r UTSW 15 9,510,315 (GRCm39) missense probably benign 0.00
Z1177:Il7r UTSW 15 9,508,143 (GRCm39) missense probably benign 0.04
Posted On 2013-06-21