Incidental Mutation 'BB007:Ifngr1'
ID 642421
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB007
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 19467697-19485977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19484931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 310 (K310R)
Ref Sequence ENSEMBL: ENSMUSP00000020188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020188] [ENSMUST00000164591]
AlphaFold P15261
Predicted Effect probably damaging
Transcript: ENSMUST00000020188
AA Change: K310R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: K310R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null 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
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
R0590:Ifngr1 UTSW 10 19,479,690 (GRCm39) splice site probably benign
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'- GGCACAATAAGAGCTACATTGTAAG -3'
(R):5'- AAAAGCTGCGTCTTTGTGTCG -3'

Sequencing Primer
(F):5'- ATCACCAAGGAGTTCAGGGTCTTC -3'
(R):5'- CGGAGTTGGAGGGCTGTC -3'
Posted On 2020-08-01