Incidental Mutation 'IGL00908:Il2rg'
ID 29577
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL00908
Quality Score
Status
Chromosome X
Chromosomal Location 100307991-100311861 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 100308454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033664] [ENSMUST00000062000] [ENSMUST00000101358] [ENSMUST00000117736] [ENSMUST00000135038]
AlphaFold P34902
Predicted Effect probably benign
Transcript: ENSMUST00000033664
SMART Domains Protein: ENSMUSP00000033664
Gene: ENSMUSG00000031304

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: ENSMUST00000062000
SMART Domains Protein: ENSMUSP00000059420
Gene: ENSMUSG00000042903

DomainStartEndE-ValueType
FH 99 189 5.9e-44 SMART
low complexity region 318 330 N/A INTRINSIC
low complexity region 434 447 N/A INTRINSIC
Pfam:FOXO-TAD 464 504 6.4e-21 PFAM
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
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 G T 15: 83,206,790 (GRCm39) P266Q probably benign Het
Atp6v1b2 T A 8: 69,548,918 (GRCm39) D61E probably benign Het
Cad T C 5: 31,216,398 (GRCm39) I190T possibly damaging Het
Chd9 C T 8: 91,723,508 (GRCm39) T558I probably damaging Het
Dmkn G A 7: 30,477,695 (GRCm39) probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ifi213 A T 1: 173,422,649 (GRCm39) V72E probably damaging Het
Ift122 A G 6: 115,890,870 (GRCm39) D803G probably benign Het
Ing2 T C 8: 48,122,296 (GRCm39) Q84R possibly damaging Het
Kdm6a T C X: 18,102,905 (GRCm39) F211L possibly damaging Het
Lmnb2 T C 10: 80,745,821 (GRCm39) D105G probably damaging Het
Magee2 A G X: 103,900,447 (GRCm39) I68T probably benign Het
Magi2 T A 5: 20,596,299 (GRCm39) D415E probably benign Het
Mospd2 C T X: 163,745,121 (GRCm39) R135Q probably damaging Het
Mysm1 T C 4: 94,847,172 (GRCm39) D508G probably damaging Het
Naip2 T C 13: 100,297,157 (GRCm39) I960V probably benign Het
Ncald C A 15: 37,372,451 (GRCm39) M131I possibly damaging Het
Nup188 T C 2: 30,223,412 (GRCm39) S1096P probably damaging Het
Plekha5 G A 6: 140,496,656 (GRCm39) E69K probably damaging Het
Ppp1cb C T 5: 32,635,412 (GRCm39) R19* probably null Het
Rasl11b G A 5: 74,356,772 (GRCm39) V50I probably damaging Het
Robo2 C T 16: 73,782,579 (GRCm39) R319K probably damaging Het
Trip4 T C 9: 65,782,216 (GRCm39) D172G probably damaging Het
Zc3h7a G A 16: 10,963,106 (GRCm39) R752C probably damaging Het
Other mutations in Il2rg
AlleleSourceChrCoordTypePredicted EffectPPH Score
deus UTSW X 100,311,416 (GRCm39) missense possibly damaging 0.74
R2062:Il2rg 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
Posted On 2013-04-17