Incidental Mutation 'IGL01952:Ifngr2'
ID181067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifngr2
Ensembl Gene ENSMUSG00000022965
Gene Nameinterferon gamma receptor 2
SynonymsIfgt, Ifgr2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01952
Quality Score
Status
Chromosome16
Chromosomal Location91547072-91565623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 91559988 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 137 (P137S)
Ref Sequence ENSEMBL: ENSMUSP00000023687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023687] [ENSMUST00000127644]
Predicted Effect probably damaging
Transcript: ENSMUST00000023687
AA Change: P137S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023687
Gene: ENSMUSG00000022965
AA Change: P137S

DomainStartEndE-ValueType
Pfam:Tissue_fac 4 121 4.7e-29 PFAM
FN3 135 216 1.49e0 SMART
transmembrane domain 244 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130404
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop normally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Ifngr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03087:Ifngr2 APN 16 91563004 makesense probably null
R1662:Ifngr2 UTSW 16 91560596 missense probably benign 0.01
R2094:Ifngr2 UTSW 16 91561779 critical splice donor site probably null
R2128:Ifngr2 UTSW 16 91562873 nonsense probably null
R4580:Ifngr2 UTSW 16 91558018 missense probably benign 0.01
R4665:Ifngr2 UTSW 16 91560038 missense possibly damaging 0.51
R5845:Ifngr2 UTSW 16 91555059 missense probably benign 0.39
R5896:Ifngr2 UTSW 16 91561765 missense possibly damaging 0.53
R6980:Ifngr2 UTSW 16 91560007 missense probably damaging 1.00
Posted On2014-05-07