Incidental Mutation 'R0463:Il5ra'
ID 41477
Institutional Source Beutler Lab
Gene Symbol Il5ra
Ensembl Gene ENSMUSG00000005364
Gene Name interleukin 5 receptor, alpha
Synonyms CDw125, Il5r, IL-5 receptor alpha chain, CD125
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0463 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 106687336-106725998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106708851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
Ref Sequence ENSEMBL: ENSMUSP00000144718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167925] [ENSMUST00000204659] [ENSMUST00000205004]
AlphaFold P21183
Predicted Effect probably damaging
Transcript: ENSMUST00000167925
AA Change: D296E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: D296E

DomainStartEndE-ValueType
FN3 27 159 6.27e0 SMART
FN3 236 312 1.28e1 SMART
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204659
AA Change: D296E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: D296E

DomainStartEndE-ValueType
FN3 27 159 6.27e0 SMART
FN3 236 312 1.28e1 SMART
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205004
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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 an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies. Mice homozygous for one knock-out allele exhibit increased metastasis of injected B16F10 melanoma cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Ada T A 2: 163,572,271 (GRCm39) I243F probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Itk A T 11: 46,222,816 (GRCm39) V551E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Magel2 T A 7: 62,027,778 (GRCm39) H227Q possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Nav1 C A 1: 135,379,945 (GRCm39) V1586F possibly damaging Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Patj G A 4: 98,562,545 (GRCm39) E1505K probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A probably damaging Het
Other mutations in Il5ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Il5ra APN 6 106,689,435 (GRCm39) splice site probably benign
IGL00726:Il5ra APN 6 106,715,450 (GRCm39) missense probably damaging 1.00
IGL01095:Il5ra APN 6 106,719,605 (GRCm39) intron probably benign
IGL01562:Il5ra APN 6 106,708,865 (GRCm39) missense probably benign 0.00
IGL01569:Il5ra APN 6 106,708,794 (GRCm39) start codon destroyed probably null
IGL02346:Il5ra APN 6 106,719,619 (GRCm39) missense probably benign 0.02
IGL02573:Il5ra APN 6 106,693,712 (GRCm39) missense possibly damaging 0.93
IGL02659:Il5ra APN 6 106,719,644 (GRCm39) missense possibly damaging 0.49
R0037:Il5ra UTSW 6 106,719,647 (GRCm39) missense probably damaging 1.00
R0037:Il5ra UTSW 6 106,719,647 (GRCm39) missense probably damaging 1.00
R0294:Il5ra UTSW 6 106,689,362 (GRCm39) missense probably benign 0.41
R0478:Il5ra UTSW 6 106,715,423 (GRCm39) missense probably benign
R0597:Il5ra UTSW 6 106,721,296 (GRCm39) start codon destroyed probably null 0.99
R1526:Il5ra UTSW 6 106,712,781 (GRCm39) missense possibly damaging 0.49
R1695:Il5ra UTSW 6 106,715,335 (GRCm39) nonsense probably null
R1888:Il5ra UTSW 6 106,708,874 (GRCm39) missense probably damaging 1.00
R1888:Il5ra UTSW 6 106,708,874 (GRCm39) missense probably damaging 1.00
R2176:Il5ra UTSW 6 106,715,233 (GRCm39) missense probably benign
R2207:Il5ra UTSW 6 106,689,402 (GRCm39) nonsense probably null
R2973:Il5ra UTSW 6 106,718,196 (GRCm39) missense probably benign 0.08
R4546:Il5ra UTSW 6 106,715,459 (GRCm39) nonsense probably null
R4842:Il5ra UTSW 6 106,715,336 (GRCm39) missense probably damaging 1.00
R4851:Il5ra UTSW 6 106,715,432 (GRCm39) missense probably benign 0.06
R4911:Il5ra UTSW 6 106,692,629 (GRCm39) missense probably damaging 1.00
R4936:Il5ra UTSW 6 106,715,123 (GRCm39) missense possibly damaging 0.90
R5297:Il5ra UTSW 6 106,715,095 (GRCm39) missense probably benign 0.09
R6035:Il5ra UTSW 6 106,718,226 (GRCm39) missense probably damaging 1.00
R6035:Il5ra UTSW 6 106,718,226 (GRCm39) missense probably damaging 1.00
R8103:Il5ra UTSW 6 106,692,611 (GRCm39) missense possibly damaging 0.87
R8338:Il5ra UTSW 6 106,689,350 (GRCm39) missense probably benign 0.09
R8497:Il5ra UTSW 6 106,715,066 (GRCm39) missense probably benign 0.01
R8936:Il5ra UTSW 6 106,692,604 (GRCm39) missense possibly damaging 0.94
R9397:Il5ra UTSW 6 106,721,258 (GRCm39) missense probably benign 0.10
R9576:Il5ra UTSW 6 106,712,688 (GRCm39) missense probably damaging 1.00
R9583:Il5ra UTSW 6 106,721,297 (GRCm39) start codon destroyed possibly damaging 0.84
R9583:Il5ra UTSW 6 106,689,331 (GRCm39) missense unknown
Z1177:Il5ra UTSW 6 106,718,095 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTGCAGACACAGTAGATGGTTGG -3'
(R):5'- GCAGCAGTGTGCAAGTTGGATG -3'

Sequencing Primer
(F):5'- GTCAGTCAAGATGAGACCACTTC -3'
(R):5'- TTTGAGCTAGTAGGACAATCCAAGC -3'
Posted On 2013-05-23