Incidental Mutation 'R0502:Ifnar1'
ID 47224
Institutional Source Beutler Lab
Gene Symbol Ifnar1
Ensembl Gene ENSMUSG00000022967
Gene Name interferon (alpha and beta) receptor 1
Synonyms Ifar, Ifrc, IFN-alpha/betaR
MMRRC Submission 038697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0502 (G1)
Quality Score 220
Status Validated
Chromosome 16
Chromosomal Location 91282126-91304329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91298639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 419 (C419S)
Ref Sequence ENSEMBL: ENSMUSP00000112670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023689] [ENSMUST00000117748] [ENSMUST00000123196] [ENSMUST00000232453]
AlphaFold P33896
Predicted Effect probably damaging
Transcript: ENSMUST00000023689
AA Change: C419S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: C419S

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
FN3 29 110 6.97e0 SMART
FN3 128 213 7.02e1 SMART
low complexity region 267 275 N/A INTRINSIC
FN3 332 409 3.23e0 SMART
PDB:4PO6|B 469 499 3e-7 PDB
low complexity region 550 562 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117748
AA Change: C419S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: C419S

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
FN3 29 110 6.97e0 SMART
FN3 128 213 7.02e1 SMART
low complexity region 267 275 N/A INTRINSIC
FN3 332 409 3.23e0 SMART
PDB:4PO6|B 469 499 3e-7 PDB
low complexity region 550 562 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123196
SMART Domains Protein: ENSMUSP00000119160
Gene: ENSMUSG00000022967

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
FN3 29 110 6.97e0 SMART
FN3 128 213 7.02e1 SMART
low complexity region 267 275 N/A INTRINSIC
FN3 332 409 3.23e0 SMART
PDB:4PO6|B 469 499 3e-7 PDB
low complexity region 550 562 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231604
Predicted Effect probably benign
Transcript: ENSMUST00000232453
Meta Mutation Damage Score 0.9272 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
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. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(5) Gene trapped(4) Chemically induced(1)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Ano1 A G 7: 144,150,952 (GRCm39) L821P probably damaging Het
Apol10b T A 15: 77,476,349 (GRCm39) probably benign Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccar2 A G 14: 70,378,431 (GRCm39) S625P probably benign Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cep350 A T 1: 155,776,629 (GRCm39) probably null Het
Chd3 A G 11: 69,244,931 (GRCm39) V1203A probably damaging Het
Col24a1 A G 3: 145,251,071 (GRCm39) probably benign Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,319 (GRCm39) S984T probably damaging Het
Dmbt1 G A 7: 130,699,403 (GRCm39) probably null Het
Dnah7b A T 1: 46,258,704 (GRCm39) E1965V probably damaging Het
Dpp4 G T 2: 62,195,332 (GRCm39) N315K probably damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Fat4 T A 3: 39,057,073 (GRCm39) S4256R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gpatch4 A G 3: 87,962,672 (GRCm39) D295G probably benign Het
Gpbar1 A T 1: 74,318,551 (GRCm39) I265F probably benign Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hacl1 A T 14: 31,344,941 (GRCm39) probably benign Het
Hnrnpc A G 14: 52,312,629 (GRCm39) probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Itga2 T G 13: 114,982,392 (GRCm39) N1038H probably benign Het
Kif16b C T 2: 142,554,075 (GRCm39) D908N probably benign Het
Lamc1 A G 1: 153,122,678 (GRCm39) probably benign Het
Lrig3 A G 10: 125,844,605 (GRCm39) T690A probably damaging Het
Lrp2 T C 2: 69,341,361 (GRCm39) K940E probably damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Ncam1 A G 9: 49,481,118 (GRCm39) probably benign Het
Nopchap1 A G 10: 83,197,920 (GRCm39) D42G probably damaging Het
Or2z2 T C 11: 58,346,140 (GRCm39) I212V possibly damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Pbrm1 T G 14: 30,786,777 (GRCm39) D631E probably benign Het
Pdc A T 1: 150,204,165 (GRCm39) probably benign Het
Pkd1 T C 17: 24,793,766 (GRCm39) S1818P probably damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rab35 G A 5: 115,783,723 (GRCm39) R170Q probably benign Het
Rerg A T 6: 137,033,305 (GRCm39) C123* probably null Het
Ros1 A G 10: 52,070,919 (GRCm39) probably benign Het
Siglece A G 7: 43,309,355 (GRCm39) Y68H probably damaging Het
Slc28a2 T A 2: 122,288,762 (GRCm39) probably null Het
Slc4a11 T C 2: 130,530,077 (GRCm39) K234E probably damaging Het
Sqor C T 2: 122,639,970 (GRCm39) P158S probably benign Het
Tcerg1 C T 18: 42,656,021 (GRCm39) P110S unknown Het
Tm6sf2 T A 8: 70,530,591 (GRCm39) Y224N probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Ubap2l A T 3: 89,916,520 (GRCm39) L898Q probably damaging Het
Uggt1 A T 1: 36,199,027 (GRCm39) V1207E probably damaging Het
Uhrf2 A G 19: 30,070,176 (GRCm39) D775G probably damaging Het
Utp25 A T 1: 192,797,136 (GRCm39) probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn1r87 T G 7: 12,865,583 (GRCm39) T235P probably damaging Het
Vmn2r96 T A 17: 18,804,262 (GRCm39) M504K probably benign Het
Zdbf2 A T 1: 63,344,449 (GRCm39) I943F possibly damaging Het
Zfp78 A G 7: 6,376,157 (GRCm39) D22G probably damaging Het
Zfp827 C T 8: 79,905,706 (GRCm39) probably null Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Other mutations in Ifnar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ifnar1 APN 16 91,286,670 (GRCm39) missense probably damaging 0.99
IGL02183:Ifnar1 APN 16 91,302,034 (GRCm39) missense possibly damaging 0.94
IGL02828:Ifnar1 APN 16 91,302,304 (GRCm39) critical splice donor site probably null
macro-1 UTSW 16 91,296,773 (GRCm39) missense probably damaging 0.98
shook UTSW 16 91,296,425 (GRCm39) nonsense probably null
sneffels UTSW 16 91,298,508 (GRCm39) critical splice acceptor site probably null
R0124:Ifnar1 UTSW 16 91,296,425 (GRCm39) nonsense probably null
R0617:Ifnar1 UTSW 16 91,298,570 (GRCm39) missense probably damaging 1.00
R1509:Ifnar1 UTSW 16 91,300,384 (GRCm39) missense probably damaging 1.00
R4111:Ifnar1 UTSW 16 91,293,046 (GRCm39) missense probably damaging 1.00
R4473:Ifnar1 UTSW 16 91,292,058 (GRCm39) missense probably damaging 0.98
R4964:Ifnar1 UTSW 16 91,301,974 (GRCm39) missense probably benign 0.08
R5497:Ifnar1 UTSW 16 91,302,252 (GRCm39) missense probably benign 0.01
R6135:Ifnar1 UTSW 16 91,298,508 (GRCm39) critical splice acceptor site probably null
R6398:Ifnar1 UTSW 16 91,302,303 (GRCm39) critical splice donor site probably null
R6505:Ifnar1 UTSW 16 91,296,425 (GRCm39) nonsense probably null
R6620:Ifnar1 UTSW 16 91,293,155 (GRCm39) splice site probably null
R7229:Ifnar1 UTSW 16 91,296,444 (GRCm39) missense probably benign 0.00
R7664:Ifnar1 UTSW 16 91,292,082 (GRCm39) missense probably damaging 1.00
R8337:Ifnar1 UTSW 16 91,302,224 (GRCm39) missense possibly damaging 0.70
R8348:Ifnar1 UTSW 16 91,292,187 (GRCm39) missense probably benign 0.00
R8531:Ifnar1 UTSW 16 91,292,344 (GRCm39) nonsense probably null
R8683:Ifnar1 UTSW 16 91,296,332 (GRCm39) missense probably damaging 1.00
R9031:Ifnar1 UTSW 16 91,302,079 (GRCm39) missense probably benign 0.13
R9110:Ifnar1 UTSW 16 91,302,150 (GRCm39) missense probably benign 0.04
R9278:Ifnar1 UTSW 16 91,302,013 (GRCm39) missense probably damaging 1.00
R9356:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
R9359:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
R9388:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
R9443:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
R9444:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
R9445:Ifnar1 UTSW 16 91,292,367 (GRCm39) missense probably benign 0.06
X0057:Ifnar1 UTSW 16 91,302,171 (GRCm39) missense possibly damaging 0.92
X0057:Ifnar1 UTSW 16 91,292,312 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCCGGAGGGAACCCATATTCTTAAC -3'
(R):5'- TTGGCTGGGTGATCCCCAATACTG -3'

Sequencing Primer
(F):5'- GAGGGAACCCATATTCTTAACTGTCC -3'
(R):5'- GGTGATCCCTCATCCCGC -3'
Posted On 2013-06-12