Incidental Mutation 'R8387:Ifngr2'
ID 647222
Institutional Source Beutler Lab
Gene Symbol Ifngr2
Ensembl Gene ENSMUSG00000022965
Gene Name interferon gamma receptor 2
Synonyms Ifgr2, Ifgt
MMRRC Submission 067876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8387 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 91343947-91360895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91358535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 245 (L245P)
Ref Sequence ENSEMBL: ENSMUSP00000023687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023687] [ENSMUST00000127644]
AlphaFold Q63953
Predicted Effect probably damaging
Transcript: ENSMUST00000023687
AA Change: L245P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023687
Gene: ENSMUSG00000022965
AA Change: L245P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Bcl7b T C 5: 135,197,413 (GRCm39) I18T probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Dhtkd1 C A 2: 5,934,479 (GRCm39) L230F possibly damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Guf1 C T 5: 69,723,810 (GRCm39) P463L probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or2o1 T C 11: 49,051,497 (GRCm39) S219P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A probably damaging Het
Other mutations in Ifngr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Ifngr2 APN 16 91,356,876 (GRCm39) missense probably damaging 1.00
IGL03087:Ifngr2 APN 16 91,359,892 (GRCm39) makesense probably null
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
R8878:Ifngr2 UTSW 16 91,359,847 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GGGCCCATCAGGTGAATTTG -3'
(R):5'- TTTGGCAGTGTCAACAAGGG -3'

Sequencing Primer
(F):5'- CCCATCAGGTGAATTTGGATGTG -3'
(R):5'- CGAGCCACGTGTTATATAGACTCTG -3'
Posted On 2020-09-02