Incidental Mutation 'PIT4651001:Il9r'
ID 556684
Institutional Source Beutler Lab
Gene Symbol Il9r
Ensembl Gene ENSMUSG00000020279
Gene Name interleukin 9 receptor
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4651001 (G1)
Quality Score 182.009
Status Not validated
Chromosome 11
Chromosomal Location 32137541-32150279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32141798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 319 (H319Q)
Ref Sequence ENSEMBL: ENSMUSP00000119185 (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

DomainStartEndE-ValueType
SCOP:d1gh7a2 47 98 1e-3 SMART
Blast:FN3 49 95 4e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128311
AA Change: H314Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: H314Q

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000142396
AA Change: H319Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: H319Q

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000145401
AA Change: H313Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: H313Q

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 70.4%
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 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,408,014 (GRCm39) I428L probably benign Het
Aass T C 6: 23,118,750 (GRCm39) I131V probably benign Het
Alcam T A 16: 52,115,550 (GRCm39) K189N probably benign Het
Ankrd50 C A 3: 38,509,959 (GRCm39) E803* probably null Het
Ankrd53 A G 6: 83,742,715 (GRCm39) D236G probably damaging Het
Bard1 A G 1: 71,114,087 (GRCm39) V298A probably benign Het
Cacna1d C T 14: 29,900,602 (GRCm39) G361D probably damaging Het
Camkk1 A G 11: 72,916,647 (GRCm39) S82G probably benign Het
Ccr4 A T 9: 114,321,261 (GRCm39) V268E probably benign Het
Cdh6 G A 15: 13,044,805 (GRCm39) S439L possibly damaging Het
Ces1e G T 8: 93,941,711 (GRCm39) A254E probably benign Het
Cfap46 T C 7: 139,225,467 (GRCm39) T1078A Het
Cyp46a1 A G 12: 108,319,367 (GRCm39) D288G probably benign Het
Dnah6 T C 6: 73,037,243 (GRCm39) N3333S probably benign Het
Dzip3 A G 16: 48,765,241 (GRCm39) V491A probably benign Het
Egr1 G T 18: 34,996,240 (GRCm39) E341* probably null Het
Enpp1 G A 10: 24,529,848 (GRCm39) P597S probably benign Het
Ercc3 A T 18: 32,373,365 (GRCm39) probably benign Het
Fbn1 T C 2: 125,205,909 (GRCm39) probably null Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fhip1a C T 3: 85,590,948 (GRCm39) A389T probably damaging Het
Gbf1 A G 19: 46,151,982 (GRCm39) N5S probably benign Het
Gbp4 T A 5: 105,266,289 (GRCm39) H584L probably benign Het
Gcgr G T 11: 120,428,968 (GRCm39) C402F probably damaging Het
Grm7 T A 6: 110,623,050 (GRCm39) N74K probably benign Het
H1f9 A G 11: 94,859,142 (GRCm39) S146G probably benign Het
Hoxa10 T G 6: 52,211,877 (GRCm39) N13T possibly damaging Het
Ice1 A T 13: 70,772,040 (GRCm39) probably null Het
Il22 C A 10: 118,041,495 (GRCm39) N69K probably damaging Het
Itgax A G 7: 127,748,282 (GRCm39) T1104A probably benign Het
Jag1 C T 2: 136,943,617 (GRCm39) G193D probably damaging Het
Krt13 T A 11: 100,010,862 (GRCm39) D164V probably damaging Het
Lepr T C 4: 101,649,194 (GRCm39) M865T probably damaging Het
Lmf2 G A 15: 89,236,272 (GRCm39) H576Y possibly damaging Het
Lrrc8c C T 5: 105,756,189 (GRCm39) H655Y probably benign Het
Mapk6 A T 9: 75,304,869 (GRCm39) S183T possibly damaging Het
Mcrs1 A T 15: 99,144,832 (GRCm39) Y261N probably damaging Het
Mon1b G A 8: 114,365,254 (GRCm39) G194D probably benign Het
Myo18b C T 5: 112,982,301 (GRCm39) R1144Q probably benign Het
Myo9b T A 8: 71,795,456 (GRCm39) H808Q possibly damaging Het
Ngdn T C 14: 55,253,657 (GRCm39) I15T probably benign Het
Nhsl1 T G 10: 18,284,183 (GRCm39) S41R probably damaging Het
Numa1 A T 7: 101,663,141 (GRCm39) K2089M probably damaging Het
Obi1 T A 14: 104,743,692 (GRCm39) D129V probably damaging Het
Obscn A G 11: 58,932,507 (GRCm39) L4900P probably damaging Het
Olfm4 T A 14: 80,258,925 (GRCm39) L391Q probably benign Het
Or10g9b A T 9: 39,917,526 (GRCm39) C240S probably damaging Het
Or2ag1 A G 7: 106,472,730 (GRCm39) C241R probably damaging Het
Or5b106 T A 19: 13,123,991 (GRCm39) I11F probably benign Het
Or5b111 A G 19: 13,291,556 (GRCm39) I31T probably benign Het
Or5m9 T C 2: 85,876,862 (GRCm39) L12P probably damaging Het
Parn T A 16: 13,449,431 (GRCm39) N302Y probably benign Het
Pi4k2b T G 5: 52,905,812 (GRCm39) S118A possibly damaging Het
Piwil4 C T 9: 14,620,195 (GRCm39) V704I possibly damaging Het
Pm20d2 G A 4: 33,181,715 (GRCm39) T296M probably damaging Het
Pmpcb C T 5: 21,951,048 (GRCm39) A270V probably benign Het
Pnpt1 T C 11: 29,106,945 (GRCm39) probably null Het
Prkn T A 17: 11,286,130 (GRCm39) L41Q probably damaging Het
Rc3h1 C A 1: 160,791,110 (GRCm39) N931K probably benign Het
Rlf A G 4: 121,007,510 (GRCm39) V600A probably damaging Het
Rpl27rt A T 18: 34,870,892 (GRCm39) Q142L unknown Het
Sall1 T G 8: 89,757,731 (GRCm39) Q791P probably damaging Het
Sema3c T A 5: 17,899,731 (GRCm39) Y408N probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Tmem181a A T 17: 6,351,170 (GRCm39) M319L probably benign Het
Trim24 T C 6: 37,877,667 (GRCm39) probably null Het
Ttn T A 2: 76,719,278 (GRCm39) T7234S unknown Het
Unc13c T A 9: 73,391,021 (GRCm39) M2076L possibly damaging Het
Uroc1 C T 6: 90,340,095 (GRCm39) R667* probably null Het
Uvrag A G 7: 98,555,727 (GRCm39) F456L probably benign Het
Vmn1r215 T C 13: 23,260,530 (GRCm39) V190A probably damaging Het
Vmn2r50 T A 7: 9,771,659 (GRCm39) T681S probably benign Het
Vmn2r65 T A 7: 84,595,461 (GRCm39) T408S probably benign Het
Vps33b A G 7: 79,939,755 (GRCm39) D502G probably damaging Het
Other mutations in Il9r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03267:Il9r APN 11 32,141,778 (GRCm39) missense possibly damaging 0.76
PIT4305001:Il9r UTSW 11 32,144,734 (GRCm39) missense probably benign
R1691:Il9r UTSW 11 32,141,829 (GRCm39) missense possibly damaging 0.75
R1695:Il9r UTSW 11 32,143,227 (GRCm39) missense probably benign 0.31
R4816:Il9r UTSW 11 32,142,654 (GRCm39) missense possibly damaging 0.93
R5381:Il9r UTSW 11 32,140,715 (GRCm39) missense probably benign 0.14
R5701:Il9r UTSW 11 32,143,263 (GRCm39) missense probably benign 0.41
R6015:Il9r UTSW 11 32,142,674 (GRCm39) missense probably benign 0.14
R6445:Il9r UTSW 11 32,141,000 (GRCm39) missense possibly damaging 0.92
R6584:Il9r UTSW 11 32,141,782 (GRCm39) missense probably benign 0.01
R6976:Il9r UTSW 11 32,143,177 (GRCm39) nonsense probably null
R7171:Il9r UTSW 11 32,142,671 (GRCm39) missense probably benign 0.15
R7326:Il9r UTSW 11 32,144,389 (GRCm39) missense possibly damaging 0.78
R7948:Il9r UTSW 11 32,144,486 (GRCm39) missense probably damaging 1.00
R9679:Il9r UTSW 11 32,140,853 (GRCm39) missense probably benign 0.05
X0028:Il9r UTSW 11 32,140,793 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTATGTGTGTAAGAGGCTCAGAG -3'
(R):5'- AATAGCCCCTTGAGGACAGG -3'

Sequencing Primer
(F):5'- GCTCAGAGCATGAACAAGGCC -3'
(R):5'- AATACAGTGGGCCCATTTGC -3'
Posted On 2019-06-07