Incidental Mutation 'IGL03087:Ifngr2'
ID418161
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 #IGL03087
Quality Score
Status
Chromosome16
Chromosomal Location91547072-91565623 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) G to T at 91563004 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Leucine at position 333 (*333L)
Ref Sequence ENSEMBL: ENSMUSP00000023687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023687] [ENSMUST00000127644]
Predicted Effect probably null
Transcript: ENSMUST00000023687
AA Change: *333L
SMART Domains Protein: ENSMUSP00000023687
Gene: ENSMUSG00000022965
AA Change: *333L

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Ifngr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Ifngr2 APN 16 91559988 missense probably damaging 1.00
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
R7475:Ifngr2 UTSW 16 91557909 missense unknown
R8387:Ifngr2 UTSW 16 91561647 missense probably damaging 1.00
Posted On2016-08-02