Incidental Mutation 'IGL03087:Ifngr2'
ID 418161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifngr2
Ensembl Gene ENSMUSG00000022965
Gene Name interferon gamma receptor 2
Synonyms Ifgr2, Ifgt
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03087
Quality Score
Status
Chromosome 16
Chromosomal Location 91343947-91360895 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) G to T at 91359892 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q63953
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: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly damaging Het
Other mutations in Ifngr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Ifngr2 APN 16 91,356,876 (GRCm39) missense probably damaging 1.00
R1662:Ifngr2 UTSW 16 91,357,484 (GRCm39) missense probably benign 0.01
R2094:Ifngr2 UTSW 16 91,358,667 (GRCm39) critical splice donor site probably null
R2128:Ifngr2 UTSW 16 91,359,761 (GRCm39) nonsense probably null
R4580:Ifngr2 UTSW 16 91,354,906 (GRCm39) missense probably benign 0.01
R4665:Ifngr2 UTSW 16 91,356,926 (GRCm39) missense possibly damaging 0.51
R5845:Ifngr2 UTSW 16 91,351,947 (GRCm39) missense probably benign 0.39
R5896:Ifngr2 UTSW 16 91,358,653 (GRCm39) missense possibly damaging 0.53
R6980:Ifngr2 UTSW 16 91,356,895 (GRCm39) missense probably damaging 1.00
R7475:Ifngr2 UTSW 16 91,354,797 (GRCm39) missense unknown
R8387:Ifngr2 UTSW 16 91,358,535 (GRCm39) missense probably damaging 1.00
R8878:Ifngr2 UTSW 16 91,359,847 (GRCm39) missense probably benign 0.16
Posted On 2016-08-02