Incidental Mutation 'R1631:Ifnar2'
ID 172819
Institutional Source Beutler Lab
Gene Symbol Ifnar2
Ensembl Gene ENSMUSG00000022971
Gene Name interferon (alpha and beta) receptor 2
Synonyms Ifnar-2
MMRRC Submission 039668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1631 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 91169671-91202477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91188755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 79 (V79I)
Ref Sequence ENSEMBL: ENSMUSP00000134796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000117836] [ENSMUST00000134491] [ENSMUST00000139503]
AlphaFold O35664
Predicted Effect probably benign
Transcript: ENSMUST00000023693
AA Change: V181I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: V181I

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: V181I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: V181I

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: V181I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: V181I

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
AA Change: V79I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134796
Gene: ENSMUSG00000022971
AA Change: V79I

DomainStartEndE-ValueType
Pfam:Interfer-bind 30 117 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139503
Predicted Effect unknown
Transcript: ENSMUST00000160764
AA Change: V49I
SMART Domains Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: V49I

DomainStartEndE-ValueType
FN3 2 92 5.1e1 SMART
FN3 110 187 9.09e0 SMART
FN3 201 291 1.39e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000161517
AA Change: V49I
SMART Domains Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701
AA Change: V49I

DomainStartEndE-ValueType
Pfam:Interfer-bind 1 100 7.5e-20 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,756,316 (GRCm39) S320T probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Als2 T C 1: 59,257,226 (GRCm39) E12G probably benign Het
Arhgef10 A T 8: 14,997,157 (GRCm39) D321V probably damaging Het
Atp8a1 T G 5: 67,906,395 (GRCm39) probably null Het
Avil A G 10: 126,846,494 (GRCm39) probably null Het
C2cd3 G A 7: 100,021,704 (GRCm39) probably null Het
Cdhr18 C T 14: 13,829,796 (GRCm38) E649K probably damaging Het
Col18a1 G A 10: 76,895,131 (GRCm39) P1177S probably damaging Het
Copb2 T A 9: 98,462,213 (GRCm39) F428L probably benign Het
Cpa1 A G 6: 30,640,923 (GRCm39) E138G probably damaging Het
Ctsm T C 13: 61,686,249 (GRCm39) I12V possibly damaging Het
Dctn1 A G 6: 83,174,578 (GRCm39) Q967R possibly damaging Het
Dok2 T C 14: 71,014,393 (GRCm39) Y194H probably damaging Het
Ezh2 C T 6: 47,554,592 (GRCm39) M1I probably null Het
Fkbp8 T A 8: 70,984,282 (GRCm39) L210Q probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
Gal3st2b T A 1: 93,868,505 (GRCm39) D243E probably damaging Het
Gm5422 A G 10: 31,125,802 (GRCm39) noncoding transcript Het
Gucy1a2 A G 9: 3,533,052 (GRCm39) N84D probably damaging Het
Hsd3b5 A C 3: 98,529,393 (GRCm39) V79G probably damaging Het
Htr6 A T 4: 138,788,804 (GRCm39) V417E probably benign Het
Ighv10-1 T C 12: 114,443,102 (GRCm39) probably benign Het
Itpr2 A G 6: 146,081,788 (GRCm39) F182L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama3 A G 18: 12,540,551 (GRCm39) Y285C probably damaging Het
Lamc2 C A 1: 153,034,680 (GRCm39) V108L possibly damaging Het
Lrrc14b A G 13: 74,509,373 (GRCm39) probably null Het
Magi3 T C 3: 103,958,493 (GRCm39) T531A probably benign Het
Mapre2 A G 18: 23,966,011 (GRCm39) Y32C probably damaging Het
Med1 C T 11: 98,046,452 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nt5el C A 13: 105,218,749 (GRCm39) Q28K probably benign Het
Or10a3b A C 7: 108,445,064 (GRCm39) L51R probably damaging Het
Or51h1 A G 7: 102,308,408 (GRCm39) I127V probably damaging Het
Or5h23 G A 16: 58,906,408 (GRCm39) T146I probably benign Het
Or7a35 A T 10: 78,853,239 (GRCm39) I28L probably benign Het
Pde1b A G 15: 103,430,099 (GRCm39) T143A probably damaging Het
Pkhd1 T C 1: 20,593,121 (GRCm39) D1664G probably benign Het
Plod3 C T 5: 137,017,847 (GRCm39) R208W probably damaging Het
Pstk G A 7: 130,986,271 (GRCm39) A277T possibly damaging Het
Qrich1 T C 9: 108,411,684 (GRCm39) V403A probably damaging Het
Rad21 C A 15: 51,833,436 (GRCm39) V348F probably damaging Het
Sacs T A 14: 61,448,181 (GRCm39) L3409* probably null Het
Setd4 T A 16: 93,390,136 (GRCm39) K98* probably null Het
Skint5 A G 4: 113,341,123 (GRCm39) V1385A probably benign Het
Stam C A 2: 14,151,059 (GRCm39) S472* probably null Het
Stx2 A G 5: 129,069,289 (GRCm39) F141L probably damaging Het
Tia1 A G 6: 86,397,330 (GRCm39) D101G probably damaging Het
Ttc21a T A 9: 119,783,228 (GRCm39) probably null Het
Usp34 T A 11: 23,410,651 (GRCm39) N2700K probably damaging 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
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
R6929:Ifnar2 UTSW 16 91,190,766 (GRCm39) nonsense probably null
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'- ACAATCCAGCCTGAGAATTGGGAAG -3'
(R):5'- GTAGCAAGCAGTCTACCACTGAGC -3'

Sequencing Primer
(F):5'- GTTGACATCCATCTCAAGTCAGG -3'
(R):5'- TGAGCAAGCCGTCTAAAGTAAC -3'
Posted On 2014-04-24