Incidental Mutation 'R2062:Il2rg'
ID 228814
Institutional Source Beutler Lab
Gene Symbol Il2rg
Ensembl Gene ENSMUSG00000031304
Gene Name interleukin 2 receptor, gamma chain
Synonyms gamma C receptor, [g]c, gamma(c), common cytokine receptor gamma chain, gc, CD132, gammaC, common gamma chain
MMRRC Submission 040067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R2062 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 100307991-100311861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100311416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 57 (L57P)
Ref Sequence ENSEMBL: ENSMUSP00000033664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033664] [ENSMUST00000101358] [ENSMUST00000117736] [ENSMUST00000135038]
AlphaFold P34902
Predicted Effect possibly damaging
Transcript: ENSMUST00000033664
AA Change: L57P

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033664
Gene: ENSMUSG00000031304
AA Change: L57P

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:IL6Ra-bind 56 151 1.1e-12 PFAM
FN3 154 235 2.44e-5 SMART
transmembrane domain 263 285 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101358
SMART Domains Protein: ENSMUSP00000098910
Gene: ENSMUSG00000090141

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
low complexity region 146 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117736
SMART Domains Protein: ENSMUSP00000112905
Gene: ENSMUSG00000092463

DomainStartEndE-ValueType
FN3 88 169 2.44e-5 SMART
transmembrane domain 192 214 N/A INTRINSIC
Pfam:Il2rg 262 359 1.1e-32 PFAM
low complexity region 404 423 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127538
Predicted Effect probably benign
Transcript: ENSMUST00000135038
SMART Domains Protein: ENSMUSP00000123318
Gene: ENSMUSG00000031304

DomainStartEndE-ValueType
FN3 44 125 2.44e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145074
Meta Mutation Damage Score 0.7086 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that is a common subunit of several interleukin receptor complexes. These receptors are comprised of alpha and beta subunits in addition to this gamma subunit. Signalling through this pathway in important in immune cell differentiation and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Males hemizygous for targeted null mutations exhibit markedly reduced numbers of T and B cells, lack NK cells and Peyer's patches, and have severely reduced numbers of gut-associated intraepithelial lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
A2ml1 A T 6: 128,529,271 (GRCm39) M957K probably benign Het
Adam7 C A 14: 68,742,610 (GRCm39) V668F probably benign Het
Adcy7 T G 8: 89,038,902 (GRCm39) L306R probably damaging Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano7 T C 1: 93,318,035 (GRCm39) V249A probably benign Het
Aox1 T C 1: 58,098,351 (GRCm39) probably null Het
Asah2 A T 19: 32,002,274 (GRCm39) V290E probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Atxn2l T A 7: 126,095,038 (GRCm39) K421N probably damaging Het
Cars2 T C 8: 11,597,747 (GRCm39) I110V probably damaging Het
Ccdc74a A G 16: 17,467,890 (GRCm39) N249S probably benign Het
Cenpe T C 3: 134,928,082 (GRCm39) probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cyp2d37-ps C T 15: 82,574,289 (GRCm39) noncoding transcript Het
Cyp3a25 A G 5: 145,923,779 (GRCm39) probably benign Het
Dis3l G T 9: 64,246,855 (GRCm39) Q67K probably benign Het
Dnah1 A G 14: 30,993,086 (GRCm39) V2936A probably damaging Het
Dnah5 C T 15: 28,366,416 (GRCm39) R2710C probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Dvl3 G A 16: 20,345,101 (GRCm39) S361N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Eif2ak3 T C 6: 70,881,181 (GRCm39) V1085A probably benign Het
Eif3b T C 5: 140,412,208 (GRCm39) Y226H probably damaging Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Ercc1 A G 7: 19,088,295 (GRCm39) *37W probably null Het
Evi2a G A 11: 79,418,593 (GRCm39) Q6* probably null Het
Faah C T 4: 115,855,770 (GRCm39) V552M probably damaging Het
Fat1 T A 8: 45,477,369 (GRCm39) N2138K probably damaging Het
Fat1 T A 8: 45,479,741 (GRCm39) V2929E probably damaging Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm6327 A T 16: 12,578,979 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hspg2 A T 4: 137,286,678 (GRCm39) T3666S possibly damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Iqgap1 G A 7: 80,373,727 (GRCm39) Q1421* probably null Het
Itga3 T A 11: 94,944,902 (GRCm39) Q802L possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lztr1 T C 16: 17,327,534 (GRCm39) V79A probably damaging Het
Mast4 C T 13: 102,895,601 (GRCm39) E736K probably benign Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Myof A G 19: 37,904,194 (GRCm39) V2A possibly damaging Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav3 G A 10: 109,555,882 (GRCm39) T1683M probably damaging Het
Nbea A G 3: 55,993,578 (GRCm39) probably benign Het
Nebl A T 2: 17,401,932 (GRCm39) M427K probably benign Het
Ngdn T C 14: 55,259,564 (GRCm39) V205A possibly damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or10j3b T C 1: 173,043,277 (GRCm39) F20L probably benign Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2w3 G T 11: 58,556,808 (GRCm39) C141F probably damaging Het
Or5m9 A G 2: 85,877,299 (GRCm39) T158A probably damaging Het
Or6c205 T A 10: 129,087,001 (GRCm39) Y199* probably null Het
Park7 T C 4: 150,989,732 (GRCm39) N76S probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pkhd1 A G 1: 20,271,559 (GRCm39) I2998T probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppard A G 17: 28,518,663 (GRCm39) H388R probably damaging Het
Psma1 A G 7: 113,869,001 (GRCm39) S142P possibly damaging Het
Pth2r T C 1: 65,382,721 (GRCm39) I158T probably damaging Het
Rbl2 C A 8: 91,833,367 (GRCm39) P714Q probably damaging Het
Rexo2 A T 9: 48,385,813 (GRCm39) S104T possibly damaging Het
Sema5a T C 15: 32,609,363 (GRCm39) probably benign Het
Spmip10 C T 18: 56,721,535 (GRCm39) Q25* probably null Het
Sun2 A G 15: 79,622,852 (GRCm39) L109P probably damaging Het
Tdg A G 10: 82,477,368 (GRCm39) T116A probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tmcc1 C T 6: 116,020,019 (GRCm39) V118M probably benign Het
Tnfsf11 T A 14: 78,516,362 (GRCm39) N202I probably damaging Het
Togaram2 T C 17: 72,023,360 (GRCm39) S759P probably benign Het
Ttc7b G A 12: 100,291,948 (GRCm39) A208V probably damaging Het
Tti2 T C 8: 31,644,338 (GRCm39) probably benign Het
Wnk1 T C 6: 119,905,118 (GRCm39) probably null Het
Zfyve26 T C 12: 79,330,806 (GRCm39) probably null Het
Zfyve28 T C 5: 34,391,681 (GRCm39) M157V probably null Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Il2rg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Il2rg APN X 100,308,454 (GRCm39) unclassified probably benign
deus UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2063:Il2rg UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2064:Il2rg UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2065:Il2rg UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2066:Il2rg UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2068:Il2rg UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
Z1191:Il2rg UTSW X 100,308,987 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGATTGGGTCCTCAAGCAG -3'
(R):5'- CTAGGACCAGAGGGAGTTGTTG -3'

Sequencing Primer
(F):5'- GATTGGGTCCTCAAGCAGTCTCTC -3'
(R):5'- GGCCTGCTAGTGCTCACTATAATG -3'
Posted On 2014-09-17