Incidental Mutation 'R6015:Il9r'
ID 478574
Institutional Source Beutler Lab
Gene Symbol Il9r
Ensembl Gene ENSMUSG00000020279
Gene Name interleukin 9 receptor
Synonyms
MMRRC Submission 043254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6015 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 32137541-32150279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32142674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 287 (V287A)
Ref Sequence ENSEMBL: ENSMUSP00000118204 (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: V288A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: V288A

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 noncoding transcript
Transcript: ENSMUST00000131979
Predicted Effect probably benign
Transcript: ENSMUST00000142396
AA Change: V293A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: V293A

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: V287A

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: V287A

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 A C 7: 51,224,525 (GRCm39) S480R probably benign Het
Aqr A G 2: 114,005,646 (GRCm39) M1T probably null Het
Arhgef28 A G 13: 98,211,530 (GRCm39) V151A possibly damaging Het
Atp6v1b2 T A 8: 69,555,148 (GRCm39) I170N probably damaging Het
Atxn2 T A 5: 121,949,055 (GRCm39) V817D probably damaging Het
Cdh23 A C 10: 60,143,761 (GRCm39) I2950S probably damaging Het
Ces1h A G 8: 94,083,691 (GRCm39) L417P unknown Het
Cimap3 T C 3: 105,906,937 (GRCm39) D154G possibly damaging Het
Csf1r A G 18: 61,242,784 (GRCm39) E49G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fat3 A G 9: 16,287,346 (GRCm39) S726P possibly damaging Het
Grik2 A T 10: 49,399,959 (GRCm39) probably null Het
Inpp5b T C 4: 124,692,143 (GRCm39) C909R possibly damaging Het
Kat7 G A 11: 95,174,860 (GRCm39) H384Y probably damaging Het
Lama5 A G 2: 179,827,185 (GRCm39) S2272P probably benign Het
Megf10 A G 18: 57,386,100 (GRCm39) H371R probably benign Het
Moxd2 A T 6: 40,860,688 (GRCm39) Y310N probably damaging Het
Ntrk2 A T 13: 59,208,209 (GRCm39) E685V probably damaging Het
Ogfr G T 2: 180,236,467 (GRCm39) G351W probably damaging Het
Or52ac1 G T 7: 104,245,915 (GRCm39) P158T probably damaging Het
Parp3 C T 9: 106,351,481 (GRCm39) V207M possibly damaging Het
Pfkfb3 T C 2: 11,486,146 (GRCm39) probably null Het
Pigr T C 1: 130,774,998 (GRCm39) V475A probably benign Het
Pik3ap1 T A 19: 41,316,640 (GRCm39) Y250F probably benign Het
Ppp1r3c A T 19: 36,711,206 (GRCm39) I188N probably damaging Het
Prmt7 T G 8: 106,961,640 (GRCm39) probably benign Het
Psapl1 T C 5: 36,361,594 (GRCm39) V62A probably benign Het
Relch T C 1: 105,619,683 (GRCm39) L280S probably damaging Het
Rpp14 G A 14: 8,090,462 (GRCm38) V129I probably benign Het
Sema4f A G 6: 82,916,553 (GRCm39) probably benign Het
Serpinb13 C A 1: 106,928,337 (GRCm39) A319E probably benign Het
Sez6l2 A T 7: 126,552,625 (GRCm39) S134C probably damaging Het
Slc4a10 T A 2: 62,059,046 (GRCm39) H184Q probably benign Het
Slc9a9 G T 9: 94,821,602 (GRCm39) A330S probably benign Het
Sord T C 2: 122,087,424 (GRCm39) V176A probably damaging Het
Ssbp2 G T 13: 91,817,862 (GRCm39) probably null Het
Stab2 G T 10: 86,773,906 (GRCm39) N808K probably damaging Het
Syne1 A G 10: 5,296,819 (GRCm39) probably null Het
Tpcn2 A G 7: 144,820,588 (GRCm39) V341A probably damaging Het
Unc13b C A 4: 43,177,995 (GRCm39) S2941* probably null Het
Utrn T A 10: 12,354,168 (GRCm39) H2806L possibly damaging Het
Vmn1r40 C A 6: 89,691,588 (GRCm39) A135D probably damaging Het
Vmn1r68 C T 7: 10,261,616 (GRCm39) V161M probably benign Het
Wiz T A 17: 32,606,574 (GRCm39) I54F 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
PIT4651001:Il9r UTSW 11 32,141,798 (GRCm39) missense probably benign 0.02
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
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'- TTTACAGACCTATCCCCAGCAG -3'
(R):5'- TGCCAAAGCCCACTGTAAGC -3'

Sequencing Primer
(F):5'- CAGTGGGATCAGGGCCTAG -3'
(R):5'- CTGCTTTGGCTCAGAGAACTAG -3'
Posted On 2017-06-26