Incidental Mutation 'R2924:Il2rb'
ID 255678
Institutional Source Beutler Lab
Gene Symbol Il2rb
Ensembl Gene ENSMUSG00000068227
Gene Name interleukin 2 receptor, beta chain
Synonyms IL-15Rbeta, IL-15 receptor beta chain, IL-2/15Rbeta, IL15Rbeta, Il-2Rbeta, CD122
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78363456-78379471 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 78376049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000127006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089398] [ENSMUST00000163494]
AlphaFold P16297
Predicted Effect probably null
Transcript: ENSMUST00000089398
AA Change: M1V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086820
Gene: ENSMUSG00000068227
AA Change: M1V

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
FN3 133 219 9.48e-3 SMART
transmembrane domain 246 268 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163494
AA Change: M1V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127006
Gene: ENSMUSG00000068227
AA Change: M1V

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
FN3 133 219 9.48e-3 SMART
transmembrane domain 246 268 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: The interleukin 2 receptor is composed of alpha and beta subunits. The beta subunit encoded by this gene is very homologous to the human beta subunit and also shows structural similarity to other cytokine receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous activation of T cells and differentiation of B cells, elevated immunoglobulins including autoantibodies causing hemolytic anemia, granulocytopoiesis, and death after 3 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Ddx50 A T 10: 62,463,373 (GRCm39) V440E probably damaging Het
Dmrtc2 G A 7: 24,571,941 (GRCm39) C12Y probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Gm5478 A T 15: 101,552,229 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Srd5a1 A G 13: 69,734,834 (GRCm39) S191P probably damaging Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Il2rb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Il2rb APN 15 78,365,897 (GRCm39) missense probably benign 0.00
Bonnerhall UTSW 15 78,369,204 (GRCm39) missense probably benign
diptera UTSW 15 78,370,006 (GRCm39) missense probably damaging 1.00
flybase UTSW 15 78,376,048 (GRCm39) start codon destroyed probably null 0.66
Halfmeasure UTSW 15 78,370,681 (GRCm39) missense probably benign 0.04
Moonpie UTSW 15 78,366,034 (GRCm39) frame shift probably null
tetragonal UTSW 15 78,369,953 (GRCm39) missense probably benign
Whistles UTSW 15 78,366,136 (GRCm39) missense possibly damaging 0.72
R0581:Il2rb UTSW 15 78,366,136 (GRCm39) missense possibly damaging 0.72
R1795:Il2rb UTSW 15 78,368,187 (GRCm39) missense probably damaging 1.00
R1932:Il2rb UTSW 15 78,375,977 (GRCm39) missense possibly damaging 0.93
R4706:Il2rb UTSW 15 78,370,600 (GRCm39) missense possibly damaging 0.81
R5713:Il2rb UTSW 15 78,376,048 (GRCm39) start codon destroyed probably null 0.66
R5953:Il2rb UTSW 15 78,369,182 (GRCm39) nonsense probably null
R6018:Il2rb UTSW 15 78,366,266 (GRCm39) missense possibly damaging 0.54
R6279:Il2rb UTSW 15 78,365,738 (GRCm39) missense possibly damaging 0.72
R6666:Il2rb UTSW 15 78,366,034 (GRCm39) frame shift probably null
R6961:Il2rb UTSW 15 78,370,024 (GRCm39) missense probably damaging 1.00
R8020:Il2rb UTSW 15 78,369,204 (GRCm39) missense probably benign
R8477:Il2rb UTSW 15 78,370,006 (GRCm39) missense probably damaging 1.00
R8854:Il2rb UTSW 15 78,369,953 (GRCm39) missense probably benign
R8976:Il2rb UTSW 15 78,370,681 (GRCm39) missense probably benign 0.04
R8979:Il2rb UTSW 15 78,376,052 (GRCm39) start gained probably benign
R9509:Il2rb UTSW 15 78,374,416 (GRCm39) missense probably damaging 0.97
R9541:Il2rb UTSW 15 78,372,393 (GRCm39) missense probably benign 0.00
R9745:Il2rb UTSW 15 78,372,399 (GRCm39) missense probably benign 0.00
X0018:Il2rb UTSW 15 78,369,965 (GRCm39) missense probably damaging 1.00
X0066:Il2rb UTSW 15 78,369,156 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGATGGATACCTGCCCTTGG -3'
(R):5'- GGTCTGACATTTTAGGCACCTC -3'

Sequencing Primer
(F):5'- CTCCCAGGCTAGATGGATCTC -3'
(R):5'- ACATTTTAGGCACCTCTGGAG -3'
Posted On 2014-12-29