Incidental Mutation 'R4816:Il9r'
ID 369818
Institutional Source Beutler Lab
Gene Symbol Il9r
Ensembl Gene ENSMUSG00000020279
Gene Name interleukin 9 receptor
MMRRC Submission 042434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4816 (G1)
Quality Score 221
Status Validated
Chromosome 11
Chromosomal Location 32187541-32200279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32192654 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 295 (S295A)
Ref Sequence ENSEMBL: ENSMUSP00000119557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020518] [ENSMUST00000128311] [ENSMUST00000142396] [ENSMUST00000145401]
AlphaFold Q01114
Predicted Effect probably benign
Transcript: ENSMUST00000020518
SMART Domains Protein: ENSMUSP00000020518
Gene: ENSMUSG00000020279

SCOP:d1gh7a2 47 98 1e-3 SMART
Blast:FN3 49 95 4e-22 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000128311
AA Change: S295A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: S295A

PDB:4GS7|B 48 254 5e-6 PDB
SCOP:d1gh7a2 143 257 4e-11 SMART
Blast:FN3 146 229 5e-43 BLAST
transmembrane domain 270 292 N/A INTRINSIC
low complexity region 343 352 N/A INTRINSIC
low complexity region 420 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131979
Predicted Effect possibly damaging
Transcript: ENSMUST00000142396
AA Change: S300A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: S300A

PDB:4GS7|B 53 259 5e-6 PDB
SCOP:d1gh7a2 148 262 3e-11 SMART
Blast:FN3 151 234 5e-43 BLAST
transmembrane domain 275 297 N/A INTRINSIC
low complexity region 348 357 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145401
AA Change: S294A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: S294A

Blast:FN3 146 228 3e-42 BLAST
SCOP:d1egja_ 147 256 1e-10 SMART
transmembrane domain 269 291 N/A INTRINSIC
low complexity region 342 351 N/A INTRINSIC
low complexity region 419 430 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
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 cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are more susceptible to experimental autoimmune encephalomyelitis, a defect partially attributable to defective regulatory T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 46,104,707 (GRCm38) A1562S probably benign Het
Adam30 C A 3: 98,162,745 (GRCm38) D631E possibly damaging Het
Adgrv1 T C 13: 81,528,674 (GRCm38) T2013A probably damaging Het
Ark2n A T 18: 77,653,299 (GRCm38) probably null Het
Baiap3 T A 17: 25,247,295 (GRCm38) probably benign Het
Bicra T C 7: 15,988,906 (GRCm38) T229A possibly damaging Het
C1qbp A G 11: 70,982,364 (GRCm38) probably benign Het
C2cd3 C A 7: 100,391,019 (GRCm38) T265K probably benign Het
Cacna1s T A 1: 136,115,269 (GRCm38) I1331K possibly damaging Het
Cdadc1 AGACGGA AGA 14: 59,568,991 (GRCm38) probably null Het
Cdcp2 A G 4: 107,106,772 (GRCm38) Y273C probably damaging Het
Cdh23 A C 10: 60,409,077 (GRCm38) V1013G possibly damaging Het
Celf3 T A 3: 94,479,222 (GRCm38) I39N probably damaging Het
Cep152 A C 2: 125,563,754 (GRCm38) S1619R probably damaging Het
Cfap36 A G 11: 29,245,108 (GRCm38) I42T probably damaging Het
Cfap61 G T 2: 146,143,100 (GRCm38) V955L probably damaging Het
Cit G A 5: 115,908,691 (GRCm38) D388N probably damaging Het
Clca3a2 T C 3: 144,810,852 (GRCm38) M328V probably benign Het
Cntn4 A T 6: 106,550,497 (GRCm38) I447L probably benign Het
Csmd3 T C 15: 47,857,934 (GRCm38) T1538A possibly damaging Het
Cstf1 A G 2: 172,372,985 (GRCm38) K9E probably damaging Het
Dip2c T A 13: 9,575,150 (GRCm38) M560K probably benign Het
Dsg1a A T 18: 20,333,722 (GRCm38) T550S probably benign Het
Dtnb A G 12: 3,749,505 (GRCm38) E460G probably damaging Het
Dus1l GAGGTAAG GAG 11: 120,789,758 (GRCm38) probably benign Het
Efl1 T A 7: 82,671,719 (GRCm38) V120E probably damaging Het
Fbxl13 T C 5: 21,484,003 (GRCm38) Y769C probably benign Het
Fcho2 T C 13: 98,806,366 (GRCm38) Y22C probably damaging Het
Flacc1 G A 1: 58,670,408 (GRCm38) A196V probably benign Het
Gbp3 T C 3: 142,567,574 (GRCm38) V294A probably damaging Het
Gls A G 1: 52,199,945 (GRCm38) probably benign Het
Gm15130 A T 2: 111,135,369 (GRCm38) probably benign Het
Gm6185 A T 1: 161,213,158 (GRCm38) noncoding transcript Het
Gpr171 T A 3: 59,098,096 (GRCm38) H86L probably damaging Het
Gpr179 T C 11: 97,339,248 (GRCm38) T694A probably damaging Het
H2-Aa A T 17: 34,283,820 (GRCm38) V124E probably damaging Het
H2bc13 A G 13: 21,715,965 (GRCm38) M60T probably benign Het
H2-M5 A G 17: 36,989,417 (GRCm38) probably benign Het
Igf2r A T 17: 12,684,097 (GRCm38) N2355K probably damaging Het
Ipo9 T C 1: 135,406,550 (GRCm38) T313A probably benign Het
Kalrn C T 16: 34,514,019 (GRCm38) probably benign Het
Lama3 G A 18: 12,477,604 (GRCm38) V1175M possibly damaging Het
Lhpp T A 7: 132,670,375 (GRCm38) C242* probably null Het
Lipe A G 7: 25,380,143 (GRCm38) S1013P probably damaging Het
Lrrc25 C T 8: 70,618,076 (GRCm38) T169I probably benign Het
Lrrc39 T C 3: 116,568,866 (GRCm38) probably null Het
Lrrd1 T A 5: 3,851,126 (GRCm38) L477* probably null Het
Lrriq4 A G 3: 30,660,047 (GRCm38) I515V possibly damaging Het
Magel2 A G 7: 62,381,092 (GRCm38) Y1248C unknown Het
Maml1 G T 11: 50,258,335 (GRCm38) N859K possibly damaging Het
Mdm1 A T 10: 118,146,877 (GRCm38) H139L possibly damaging Het
Mef2d C T 3: 88,168,090 (GRCm38) P420S possibly damaging Het
Mgat4b A G 11: 50,211,021 (GRCm38) K38E probably benign Het
Mtmr4 T C 11: 87,604,097 (GRCm38) V405A probably damaging Het
Naip5 T C 13: 100,219,696 (GRCm38) Q1137R probably benign Het
Naip5 G A 13: 100,219,687 (GRCm38) T1140M probably benign Het
Naip5 G A 13: 100,219,681 (GRCm38) S1142F probably benign Het
Nfe2l3 T C 6: 51,456,624 (GRCm38) S239P probably damaging Het
Nlrp3 A G 11: 59,548,301 (GRCm38) I235V probably benign Het
Nyap2 T A 1: 81,241,313 (GRCm38) L318Q probably damaging Het
Nynrin G A 14: 55,872,001 (GRCm38) V1522M probably damaging Het
Oog3 A G 4: 144,159,161 (GRCm38) L289P probably damaging Het
Or52n20 C T 7: 104,670,735 (GRCm38) P11L probably benign Het
Or5b107 A G 19: 13,165,124 (GRCm38) I37V probably benign Het
Or6c69b T C 10: 129,791,439 (GRCm38) D50G probably damaging Het
Or8b12b T A 9: 37,773,430 (GRCm38) M257K possibly damaging Het
Or9g20 A T 2: 85,800,047 (GRCm38) N74K probably benign Het
Pax6 T C 2: 105,683,784 (GRCm38) probably benign Het
Pbrm1 G A 14: 31,110,448 (GRCm38) R1441K probably benign Het
Pcdha9 C T 18: 36,999,458 (GRCm38) R527W probably damaging Het
Pcdhb17 T C 18: 37,487,397 (GRCm38) S747P probably benign Het
Pcnx3 A C 19: 5,687,995 (GRCm38) probably null Het
Pds5a A T 5: 65,651,289 (GRCm38) V413E probably damaging Het
Phpt1 G T 2: 25,574,320 (GRCm38) probably benign Het
Phykpl A G 11: 51,592,953 (GRCm38) E220G probably benign Het
Pias2 T C 18: 77,105,891 (GRCm38) probably null Het
Pkhd1 T A 1: 20,199,415 (GRCm38) I3302L probably damaging Het
Poli A G 18: 70,522,751 (GRCm38) L241P probably damaging Het
Ppm1h T A 10: 122,679,379 (GRCm38) I65N possibly damaging Het
Ptpn14 T C 1: 189,856,800 (GRCm38) L954P probably damaging Het
Pxk T G 14: 8,136,893 (GRCm38) M138R probably damaging Het
Rasl11b G T 5: 74,198,397 (GRCm38) D188Y probably damaging Het
Rtraf A G 14: 19,822,576 (GRCm38) F59S probably benign Het
Sanbr A C 11: 23,615,243 (GRCm38) I248S possibly damaging Het
Serpinb5 G T 1: 106,872,339 (GRCm38) L86F probably damaging Het
Setdb2 G A 14: 59,413,646 (GRCm38) T412I probably benign Het
Shank2 C A 7: 144,052,306 (GRCm38) N75K probably damaging Het
Shank3 T A 15: 89,543,115 (GRCm38) I791N probably damaging Het
Slc25a13 T A 6: 6,114,274 (GRCm38) M213L possibly damaging Het
Slc25a21 T C 12: 56,713,838 (GRCm38) Y298C probably damaging Het
Slc34a2 A G 5: 53,069,020 (GRCm38) N495S probably damaging Het
Smc2 A G 4: 52,451,231 (GRCm38) T292A probably benign Het
Spag9 T C 11: 94,048,599 (GRCm38) probably benign Het
Tas2r113 C T 6: 132,893,782 (GRCm38) P258S probably benign Het
Tbkbp1 T C 11: 97,138,741 (GRCm38) S530G probably benign Het
Tenm2 A G 11: 36,027,290 (GRCm38) V1881A probably damaging Het
Tm9sf1 C T 14: 55,641,149 (GRCm38) R262Q possibly damaging Het
Tmcc3 G T 10: 94,578,784 (GRCm38) G147V possibly damaging Het
Trim38 A T 13: 23,788,281 (GRCm38) E195V probably damaging Het
Try5 T C 6: 41,313,415 (GRCm38) Y45C probably benign Het
Umad1 A C 6: 8,457,462 (GRCm38) probably benign Het
Vmn2r105 T C 17: 20,208,691 (GRCm38) I708V probably benign Het
Zc3h12d A T 10: 7,867,947 (GRCm38) S494C probably damaging Het
Zeb2 A G 2: 44,997,768 (GRCm38) S382P probably damaging Het
Zfc3h1 A G 10: 115,415,694 (GRCm38) S1304G probably benign Het
Zfp287 G T 11: 62,714,248 (GRCm38) T611K probably damaging Het
Zfp534 G A 4: 147,674,286 (GRCm38) T642I possibly damaging Het
Other mutations in Il9r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03267:Il9r APN 11 32,191,778 (GRCm38) missense possibly damaging 0.76
PIT4305001:Il9r UTSW 11 32,194,734 (GRCm38) missense probably benign
PIT4651001:Il9r UTSW 11 32,191,798 (GRCm38) missense probably benign 0.02
R1691:Il9r UTSW 11 32,191,829 (GRCm38) missense possibly damaging 0.75
R1695:Il9r UTSW 11 32,193,227 (GRCm38) missense probably benign 0.31
R5381:Il9r UTSW 11 32,190,715 (GRCm38) missense probably benign 0.14
R5701:Il9r UTSW 11 32,193,263 (GRCm38) missense probably benign 0.41
R6015:Il9r UTSW 11 32,192,674 (GRCm38) missense probably benign 0.14
R6445:Il9r UTSW 11 32,191,000 (GRCm38) missense possibly damaging 0.92
R6584:Il9r UTSW 11 32,191,782 (GRCm38) missense probably benign 0.01
R6976:Il9r UTSW 11 32,193,177 (GRCm38) nonsense probably null
R7171:Il9r UTSW 11 32,192,671 (GRCm38) missense probably benign 0.15
R7326:Il9r UTSW 11 32,194,389 (GRCm38) missense possibly damaging 0.78
R7948:Il9r UTSW 11 32,194,486 (GRCm38) missense probably damaging 1.00
R9679:Il9r UTSW 11 32,190,853 (GRCm38) missense probably benign 0.05
X0028:Il9r UTSW 11 32,190,793 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-02-04