Incidental Mutation 'R6929:Ifnar2'
ID 539913
Institutional Source Beutler Lab
Gene Symbol Ifnar2
Ensembl Gene ENSMUSG00000022971
Gene Name interferon (alpha and beta) receptor 2
Synonyms Ifnar-2
MMRRC Submission 045007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6929 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 91169671-91202477 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 91190766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 93 (L93*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000117836] [ENSMUST00000134491] [ENSMUST00000139503]
AlphaFold O35664
Predicted Effect probably null
Transcript: ENSMUST00000023693
AA Change: L225*
SMART Domains Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: L225*

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 118 8.9e-18 PFAM
Pfam:Interfer-bind 132 231 9.2e-19 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 361 389 N/A INTRINSIC
low complexity region 476 485 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000089042
AA Change: L225*
SMART Domains Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: L225*

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 118 2.9e-18 PFAM
Pfam:Interfer-bind 132 231 1.5e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117836
AA Change: L225*
SMART Domains Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: L225*

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 118 2.9e-18 PFAM
Pfam:Interfer-bind 132 231 1.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134491
SMART Domains Protein: ENSMUSP00000134796
Gene: ENSMUSG00000022971

DomainStartEndE-ValueType
Pfam:Interfer-bind 30 117 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139503
Predicted Effect probably null
Transcript: ENSMUST00000160764
AA Change: L93*
SMART Domains Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: L93*

DomainStartEndE-ValueType
FN3 2 92 5.1e1 SMART
FN3 110 187 9.09e0 SMART
FN3 201 291 1.39e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161517
AA Change: L93*
SMART Domains Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701
AA Change: L93*

DomainStartEndE-ValueType
Pfam:Interfer-bind 1 100 7.5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 92% (35/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations of this gene have defects in immune responses involving, variously, NK cells, CD4+ and CD8+ T cells and B cells in response to induced and transplanted tumors, viruses, and double stranded DNA. These defects include diminished secretion of type I and type II interferons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,896,275 (GRCm39) R1223* probably null Het
Adgrb3 A T 1: 25,150,852 (GRCm39) L1127* probably null Het
Ankrd17 A T 5: 90,433,384 (GRCm39) V727D possibly damaging Het
Ankub1 A T 3: 57,572,854 (GRCm39) C289* probably null Het
C2 T A 17: 35,083,323 (GRCm39) I242F possibly damaging Het
C2cd3 T C 7: 100,100,826 (GRCm39) L653P probably damaging Het
Cacna1b A G 2: 24,522,022 (GRCm39) V1696A probably damaging Het
Cep295 A G 9: 15,244,358 (GRCm39) I1366T probably damaging Het
Chd9 T C 8: 91,769,573 (GRCm39) L2553P probably damaging Het
Cited4 C A 4: 120,524,244 (GRCm39) T82K probably benign Het
Dnah6 A T 6: 73,021,756 (GRCm39) M3470K probably damaging Het
Exosc3 G T 4: 45,320,482 (GRCm39) P37Q probably damaging Het
Fam120b C A 17: 15,643,290 (GRCm39) Q690K possibly damaging Het
Fyb1 T C 15: 6,668,388 (GRCm39) I527T probably damaging Het
Gm32742 A G 9: 51,065,579 (GRCm39) L459P probably benign Het
Gm45861 A G 8: 28,014,462 (GRCm39) D655G unknown Het
Ifi203 A G 1: 173,756,340 (GRCm39) probably benign Het
Kdr A G 5: 76,138,764 (GRCm39) V22A probably benign Het
Llgl1 C T 11: 60,601,179 (GRCm39) Q706* probably null Het
Lrrc9 A T 12: 72,497,546 (GRCm39) K121N probably benign Het
Lyst T C 13: 13,917,909 (GRCm39) F3323S probably damaging Het
Mc4r A G 18: 66,992,253 (GRCm39) Y287H probably damaging Het
Nlrp4e A C 7: 23,036,156 (GRCm39) probably null Het
Or52z12 A T 7: 103,233,651 (GRCm39) I141F probably damaging Het
Or8b42 A G 9: 38,342,444 (GRCm39) I289V probably benign Het
Pear1 T A 3: 87,666,872 (GRCm39) K38* probably null Het
Pik3c2g G A 6: 139,903,502 (GRCm39) R585Q possibly damaging Het
Prpf40a A G 2: 53,034,875 (GRCm39) V771A possibly damaging Het
Rnd3 G T 2: 51,027,187 (GRCm39) D103E probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Spats2l A T 1: 57,918,695 (GRCm39) N43I probably damaging Het
Tmem202 C A 9: 59,426,504 (GRCm39) G221C probably benign Het
Ubiad1 T C 4: 148,528,579 (GRCm39) D110G probably damaging Het
Ulk4 A T 9: 120,903,081 (GRCm39) V1132D probably benign Het
Vmn2r118 C T 17: 55,917,440 (GRCm39) M357I probably benign Het
Zfp663 G C 2: 165,195,178 (GRCm39) P347R probably benign Het
Other mutations in Ifnar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Ifnar2 APN 16 91,188,599 (GRCm39) unclassified probably benign
IGL02817:Ifnar2 APN 16 91,184,880 (GRCm39) missense probably benign 0.01
macro-2 UTSW 16 91,180,787 (GRCm39) start codon destroyed probably null
R0701:Ifnar2 UTSW 16 91,201,117 (GRCm39) missense possibly damaging 0.53
R1342:Ifnar2 UTSW 16 91,200,809 (GRCm39) missense possibly damaging 0.85
R1542:Ifnar2 UTSW 16 91,196,153 (GRCm39) missense possibly damaging 0.95
R1631:Ifnar2 UTSW 16 91,188,755 (GRCm39) missense probably benign 0.00
R1913:Ifnar2 UTSW 16 91,201,058 (GRCm39) missense probably benign 0.33
R3078:Ifnar2 UTSW 16 91,182,889 (GRCm39) missense possibly damaging 0.86
R4193:Ifnar2 UTSW 16 91,201,232 (GRCm39) missense probably damaging 0.98
R4592:Ifnar2 UTSW 16 91,188,684 (GRCm39) missense probably benign
R5385:Ifnar2 UTSW 16 91,201,086 (GRCm39) missense possibly damaging 0.70
R5545:Ifnar2 UTSW 16 91,181,913 (GRCm39) critical splice donor site probably null
R5645:Ifnar2 UTSW 16 91,201,115 (GRCm39) missense possibly damaging 0.85
R6223:Ifnar2 UTSW 16 91,184,876 (GRCm39) missense probably damaging 0.98
R6371:Ifnar2 UTSW 16 91,184,986 (GRCm39) missense possibly damaging 0.95
R6710:Ifnar2 UTSW 16 91,190,771 (GRCm39) missense probably damaging 0.98
R7530:Ifnar2 UTSW 16 91,201,201 (GRCm39) missense probably benign 0.18
R7763:Ifnar2 UTSW 16 91,196,181 (GRCm39) missense probably benign 0.02
R8444:Ifnar2 UTSW 16 91,200,857 (GRCm39) missense possibly damaging 0.93
R8529:Ifnar2 UTSW 16 91,188,684 (GRCm39) missense possibly damaging 0.77
R8969:Ifnar2 UTSW 16 91,201,060 (GRCm39) missense probably benign 0.18
R9016:Ifnar2 UTSW 16 91,201,073 (GRCm39) missense possibly damaging 0.96
R9667:Ifnar2 UTSW 16 91,184,984 (GRCm39) missense probably benign 0.01
R9765:Ifnar2 UTSW 16 91,184,975 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGGCTAACCTCTCACCAAAGTC -3'
(R):5'- CAGGTATTTGATTATTCTGACGGCAG -3'

Sequencing Primer
(F):5'- CACCAAAGTCTTAACTGATCTGAGTG -3'
(R):5'- TTGATTATTCTGACGGCAGGACAAG -3'
Posted On 2018-11-06