Incidental Mutation 'R0590:Ifngr1'
ID 55930
Institutional Source Beutler Lab
Gene Symbol Ifngr1
Ensembl Gene ENSMUSG00000020009
Gene Name interferon gamma receptor 1
Synonyms IFN-gammaR, Ifgr, IFN-gamma R, Ifngr, Nktar, CD119
MMRRC Submission 038780-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0590 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 19467697-19485977 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 19479690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020188] [ENSMUST00000164591]
AlphaFold P15261
Predicted Effect probably benign
Transcript: ENSMUST00000020188
SMART Domains Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 119 2.2e-27 PFAM
Pfam:Interfer-bind 131 245 8.5e-9 PFAM
Pfam:IFNGR1 168 331 1.6e-53 PFAM
low complexity region 401 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164591
SMART Domains Protein: ENSMUSP00000129309
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 74 2.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171772
SMART Domains Protein: ENSMUSP00000127219
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 94 1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172253
SMART Domains Protein: ENSMUSP00000127484
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 C T 4: 49,383,273 (GRCm39) M93I probably benign Het
Adamts16 T C 13: 70,949,073 (GRCm39) D196G probably benign Het
Adhfe1 T A 1: 9,618,378 (GRCm39) probably null Het
AI661453 A G 17: 47,777,999 (GRCm39) probably benign Het
Apc G T 18: 34,449,283 (GRCm39) E2026* probably null Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Cad T C 5: 31,219,575 (GRCm39) S688P probably damaging Het
Ccdc191 C T 16: 43,751,704 (GRCm39) R345* probably null Het
Dcaf13 T A 15: 39,008,480 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,480 (GRCm39) D607G probably benign Het
Fhip1a T C 3: 85,579,683 (GRCm39) R841G probably benign Het
Gli1 G T 10: 127,167,432 (GRCm39) A607E possibly damaging Het
Gls G A 1: 52,251,534 (GRCm39) probably benign Het
Gria1 A T 11: 57,180,235 (GRCm39) Q728H probably damaging Het
Hcrtr1 A G 4: 130,029,487 (GRCm39) L198P probably damaging Het
Ipo5 T C 14: 121,181,769 (GRCm39) V954A possibly damaging Het
Kcnh5 G T 12: 75,012,035 (GRCm39) A628D probably damaging Het
Kif14 T C 1: 136,410,210 (GRCm39) S646P probably damaging Het
Ksr1 A G 11: 78,935,966 (GRCm39) S133P probably damaging Het
Neb T C 2: 52,027,302 (GRCm39) M7143V probably damaging Het
Nelfa G A 5: 34,059,169 (GRCm39) P229S probably damaging Het
Nfatc2 T C 2: 168,413,119 (GRCm39) T169A probably damaging Het
Nr1h4 A G 10: 89,292,429 (GRCm39) Y398H probably damaging Het
Nrcam A G 12: 44,610,815 (GRCm39) E511G probably damaging Het
Ocstamp T A 2: 165,239,671 (GRCm39) R172W probably damaging Het
Or10ag60 A G 2: 87,438,338 (GRCm39) E202G probably damaging Het
Or8d1 T A 9: 38,766,766 (GRCm39) M136K probably damaging Het
Or8g19 T C 9: 39,056,017 (GRCm39) V207A probably benign Het
Phf14 G A 6: 11,961,577 (GRCm39) V405I possibly damaging Het
Plk5 G A 10: 80,196,057 (GRCm39) R238H probably damaging Het
Pole A G 5: 110,465,792 (GRCm39) E1240G probably benign Het
Prdm15 A G 16: 97,598,961 (GRCm39) I899T possibly damaging Het
Psip1 T C 4: 83,376,381 (GRCm39) N486S probably benign Het
Rlf A G 4: 121,028,030 (GRCm39) probably benign Het
Rttn T C 18: 88,997,759 (GRCm39) S255P probably damaging Het
Rusf1 A G 7: 127,896,642 (GRCm39) L134P probably damaging Het
Sema6c A G 3: 95,079,934 (GRCm39) K711E probably damaging Het
Slc4a10 A T 2: 62,021,237 (GRCm39) probably benign Het
Trim36 T G 18: 46,305,643 (GRCm39) S435R probably benign Het
Ucp1 A G 8: 84,018,232 (GRCm39) probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn1r23 A G 6: 57,903,349 (GRCm39) V143A probably benign Het
Wdfy4 T A 14: 32,763,131 (GRCm39) Q2166L probably benign Het
Zc3h7b C T 15: 81,661,199 (GRCm39) T346M possibly damaging Het
Zfhx4 T A 3: 5,467,693 (GRCm39) V2617D probably damaging Het
Other mutations in Ifngr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Ifngr1 APN 10 19,484,946 (GRCm39) missense probably damaging 0.99
IGL01125:Ifngr1 APN 10 19,473,161 (GRCm39) splice site probably benign
IGL01366:Ifngr1 APN 10 19,485,348 (GRCm39) missense probably damaging 1.00
IGL01951:Ifngr1 APN 10 19,485,202 (GRCm39) missense possibly damaging 0.94
IGL02037:Ifngr1 APN 10 19,483,007 (GRCm39) missense probably benign 0.26
Marigold UTSW 10 19,477,233 (GRCm39) critical splice donor site probably null
BB007:Ifngr1 UTSW 10 19,484,931 (GRCm39) missense probably damaging 1.00
BB017:Ifngr1 UTSW 10 19,484,931 (GRCm39) missense probably damaging 1.00
R0023:Ifngr1 UTSW 10 19,485,197 (GRCm39) nonsense probably null
R0325:Ifngr1 UTSW 10 19,473,180 (GRCm39) missense probably damaging 1.00
R1305:Ifngr1 UTSW 10 19,482,001 (GRCm39) missense possibly damaging 0.91
R1496:Ifngr1 UTSW 10 19,477,193 (GRCm39) missense probably benign 0.04
R1597:Ifngr1 UTSW 10 19,485,090 (GRCm39) missense probably damaging 0.99
R2019:Ifngr1 UTSW 10 19,467,861 (GRCm39) missense probably damaging 0.99
R2302:Ifngr1 UTSW 10 19,485,393 (GRCm39) missense probably damaging 1.00
R2484:Ifngr1 UTSW 10 19,477,163 (GRCm39) missense probably damaging 1.00
R4089:Ifngr1 UTSW 10 19,477,233 (GRCm39) critical splice donor site probably null
R4464:Ifngr1 UTSW 10 19,473,265 (GRCm39) missense possibly damaging 0.75
R4863:Ifngr1 UTSW 10 19,485,164 (GRCm39) missense probably damaging 1.00
R6045:Ifngr1 UTSW 10 19,484,909 (GRCm39) missense possibly damaging 0.61
R6047:Ifngr1 UTSW 10 19,482,061 (GRCm39) missense probably damaging 1.00
R6089:Ifngr1 UTSW 10 19,482,048 (GRCm39) missense probably benign 0.01
R6750:Ifngr1 UTSW 10 19,485,099 (GRCm39) missense probably benign 0.06
R6950:Ifngr1 UTSW 10 19,483,041 (GRCm39) missense probably damaging 0.99
R7162:Ifngr1 UTSW 10 19,485,101 (GRCm39) missense probably benign
R7930:Ifngr1 UTSW 10 19,484,931 (GRCm39) missense probably damaging 1.00
R8178:Ifngr1 UTSW 10 19,485,241 (GRCm39) missense probably benign 0.03
R8436:Ifngr1 UTSW 10 19,479,553 (GRCm39) missense probably damaging 1.00
R8975:Ifngr1 UTSW 10 19,485,360 (GRCm39) missense probably damaging 1.00
R9451:Ifngr1 UTSW 10 19,483,041 (GRCm39) missense possibly damaging 0.61
T0975:Ifngr1 UTSW 10 19,485,221 (GRCm39) missense probably damaging 0.98
X0005:Ifngr1 UTSW 10 19,485,221 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGGAAGAACAGCTCTCCGTCCTC -3'
(R):5'- CGTGGCACTGTAGATGTACTGTCAG -3'

Sequencing Primer
(F):5'- CGTATTTCACCCTGAAGTCGTTG -3'
(R):5'- CACTGTAGATGTACTGTCAGCTTATC -3'
Posted On 2013-07-11