Incidental Mutation 'IGL02817:Ifnar2'
ID360840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifnar2
Ensembl Gene ENSMUSG00000022971
Gene Nameinterferon (alpha and beta) receptor 2
SynonymsIfnar-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02817
Quality Score
Status
Chromosome16
Chromosomal Location91372783-91405589 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 91387992 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 90 (K90N)
Ref Sequence ENSEMBL: ENSMUSP00000113358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000117836] [ENSMUST00000134491] [ENSMUST00000139503]
Predicted Effect probably benign
Transcript: ENSMUST00000023693
AA Change: K90N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: K90N

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 benign
Transcript: ENSMUST00000089042
AA Change: K90N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: K90N

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: ENSMUST00000117836
AA Change: K90N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: K90N

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 benign
Transcript: ENSMUST00000160764
SMART Domains Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701

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

DomainStartEndE-ValueType
Pfam:Interfer-bind 1 100 7.5e-20 PFAM
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 35,100,649 V12A probably damaging Het
Ash1l C A 3: 88,984,801 P1329H probably damaging Het
Bpifb3 T C 2: 153,919,646 V5A unknown Het
Cep350 A G 1: 155,928,842 S832P probably damaging Het
Chd1 A T 17: 15,749,500 H947L possibly damaging Het
Clec4b1 A T 6: 123,068,485 H88L possibly damaging Het
Col4a1 A G 8: 11,220,259 L859P probably damaging Het
Cyp2f2 T A 7: 27,129,315 N203K probably damaging Het
Dgka G A 10: 128,730,228 T351I probably benign Het
Dmc1 G A 15: 79,588,763 T161I probably damaging Het
Dnah8 A G 17: 30,668,295 N688D probably benign Het
Dpy19l3 A G 7: 35,692,808 L653P probably damaging Het
Drc3 A G 11: 60,384,236 E341G probably benign Het
Fam155a A T 8: 9,207,994 C385S probably damaging Het
Fcrl5 T G 3: 87,435,913 V10G probably benign Het
Fgfr4 T C 13: 55,156,668 probably null Het
Gli2 T C 1: 118,836,371 H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 S30P probably benign Het
Grik4 T C 9: 42,622,939 N349S probably benign Het
Kcp A T 6: 29,496,969 I547N probably damaging Het
L3mbtl4 A T 17: 68,630,254 E423D probably benign Het
Mapkap1 T C 2: 34,563,118 L341P probably damaging Het
Mdm1 A G 10: 118,164,346 Q618R possibly damaging Het
Medag A T 5: 149,427,038 R51* probably null Het
Myo1f G A 17: 33,604,558 R1020K probably benign Het
Myrf T C 19: 10,225,452 N153D probably benign Het
Naf1 T C 8: 66,883,525 I368T probably damaging Het
Ncapd2 A G 6: 125,170,914 probably null Het
Nsfl1c T A 2: 151,500,731 S74T probably damaging Het
Olfr1097 T C 2: 86,890,593 N194S probably benign Het
Olfr435 A T 6: 43,202,059 R138S probably benign Het
Olfr780 A G 10: 129,321,895 T91A probably benign Het
Ptgfrn T A 3: 101,060,752 E508D probably benign Het
Ryr3 C A 2: 112,844,623 probably null Het
Snx27 A G 3: 94,503,463 L460P probably damaging Het
Sp4 G T 12: 118,299,552 T253K probably damaging Het
Trio T C 15: 27,902,881 I165V probably benign Het
Txnl4b A G 8: 109,572,846 Y146C probably damaging Het
Vmn1r42 A G 6: 89,845,536 M17T probably damaging Het
Zer1 T C 2: 30,103,394 I567V probably damaging Het
Other mutations in Ifnar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Ifnar2 APN 16 91391711 unclassified probably benign
macro-2 UTSW 16 91383899 start codon destroyed probably null
R0701:Ifnar2 UTSW 16 91404229 missense possibly damaging 0.53
R1342:Ifnar2 UTSW 16 91403921 missense possibly damaging 0.85
R1542:Ifnar2 UTSW 16 91399265 missense possibly damaging 0.95
R1631:Ifnar2 UTSW 16 91391867 missense probably benign 0.00
R1913:Ifnar2 UTSW 16 91404170 missense probably benign 0.33
R3078:Ifnar2 UTSW 16 91386001 missense possibly damaging 0.86
R4193:Ifnar2 UTSW 16 91404344 missense probably damaging 0.98
R4592:Ifnar2 UTSW 16 91391796 missense probably benign
R5385:Ifnar2 UTSW 16 91404198 missense possibly damaging 0.70
R5545:Ifnar2 UTSW 16 91385025 critical splice donor site probably null
R5645:Ifnar2 UTSW 16 91404227 missense possibly damaging 0.85
R6223:Ifnar2 UTSW 16 91387988 missense probably damaging 0.98
R6371:Ifnar2 UTSW 16 91388098 missense possibly damaging 0.95
R6710:Ifnar2 UTSW 16 91393883 missense probably damaging 0.98
R6929:Ifnar2 UTSW 16 91393878 nonsense probably null
R7530:Ifnar2 UTSW 16 91404313 missense probably benign 0.18
Posted On2015-12-18