Incidental Mutation 'R1342:Ifnar2'
ID 156415
Institutional Source Beutler Lab
Gene Symbol Ifnar2
Ensembl Gene ENSMUSG00000022971
Gene Name interferon (alpha and beta) receptor 2
Synonyms Ifnar-2
MMRRC Submission 039407-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1342 (G1)
Quality Score 187
Status Validated
Chromosome 16
Chromosomal Location 91169671-91202477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91200809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 350 (D350G)
Ref Sequence ENSEMBL: ENSMUSP00000023693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023691] [ENSMUST00000023693] [ENSMUST00000089042] [ENSMUST00000156133]
AlphaFold O35664
Predicted Effect probably benign
Transcript: ENSMUST00000023691
SMART Domains Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 23 100 4.6e-2 SMART
FN3 114 204 7.1e-3 SMART
transmembrane domain 228 250 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000023693
AA Change: D350G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: D350G

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
SMART Domains Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 118 2.9e-18 PFAM
Pfam:Interfer-bind 132 231 1.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137612
Predicted Effect probably benign
Transcript: ENSMUST00000144215
SMART Domains Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969

DomainStartEndE-ValueType
Pfam:Tissue_fac 7 65 1.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152729
Predicted Effect probably benign
Transcript: ENSMUST00000161517
SMART Domains Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701

DomainStartEndE-ValueType
Pfam:Interfer-bind 1 100 7.5e-20 PFAM
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: ENSMUST00000156133
SMART Domains Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969

DomainStartEndE-ValueType
low complexity region 39 48 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.6%
Validation Efficiency 100% (43/43)
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
Atp10a G T 7: 58,465,894 (GRCm39) probably benign Het
B3gnt9 T C 8: 105,980,956 (GRCm39) E144G probably null Het
Bcl9 G T 3: 97,113,042 (GRCm39) Q1138K possibly damaging Het
C6 T C 15: 4,769,231 (GRCm39) probably benign Het
Ccl4 A G 11: 83,554,402 (GRCm39) probably benign Het
Cdc73 A G 1: 143,578,230 (GRCm39) probably null Het
Cemip A T 7: 83,593,283 (GRCm39) L1140* probably null Het
Chd4 C A 6: 125,074,151 (GRCm39) P8Q probably benign Het
Col27a1 G A 4: 63,175,351 (GRCm39) probably null Het
Col9a1 G A 1: 24,262,701 (GRCm39) probably null Het
Colgalt1 C T 8: 72,070,804 (GRCm39) T232I probably damaging Het
Dnah8 A G 17: 30,939,974 (GRCm39) D1640G probably damaging Het
Dot1l T G 10: 80,621,859 (GRCm39) C504G probably benign Het
Gm9892 T C 8: 52,649,458 (GRCm39) T212A probably benign Het
Hjurp G A 1: 88,205,090 (GRCm39) probably benign Het
Ift172 T C 5: 31,419,210 (GRCm39) I1144V probably benign Het
Ipo7 A T 7: 109,629,011 (GRCm39) N94Y possibly damaging Het
Irag1 T A 7: 110,487,252 (GRCm39) M699L probably benign Het
Mapkbp1 C A 2: 119,829,015 (GRCm39) A57D possibly damaging Het
Mmd T A 11: 90,167,676 (GRCm39) I235N probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Palld A G 8: 61,975,916 (GRCm39) probably null Het
Parp4 G A 14: 56,827,854 (GRCm39) E202K probably damaging Het
Pclo C A 5: 14,732,191 (GRCm39) probably benign Het
Pde8a T C 7: 80,952,042 (GRCm39) probably null Het
Pdgfrb T A 18: 61,198,952 (GRCm39) L370* probably null Het
Phf2 A T 13: 48,957,953 (GRCm39) S1020R unknown Het
Pik3r4 T A 9: 105,528,100 (GRCm39) probably null Het
Plxnb1 C A 9: 108,929,720 (GRCm39) P192Q possibly damaging Het
Ppil3 A T 1: 58,480,037 (GRCm39) I46N probably damaging Het
Prr14l A C 5: 32,987,604 (GRCm39) C630W probably damaging Het
Rfx5 A G 3: 94,865,723 (GRCm39) I341V probably benign Het
Ryr3 T C 2: 112,581,148 (GRCm39) K2895E probably damaging Het
Slc5a12 T C 2: 110,447,435 (GRCm39) probably null Het
Slc8a3 T C 12: 81,362,790 (GRCm39) T10A probably damaging Het
Ss18 A G 18: 14,769,595 (GRCm39) Y321H unknown Het
Sspo A G 6: 48,438,569 (GRCm39) N1546D probably benign Het
Thbs4 G A 13: 92,888,925 (GRCm39) L923F probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q 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
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
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'- ACCTGGATAATCCCTGAACGGTCAC -3'
(R):5'- ATCCGAAGGTCTGACTCTGTCCTC -3'

Sequencing Primer
(F):5'- TGAACGGTCACCTTCAGAAGC -3'
(R):5'- TTCATCATGGAGAACCCTCAG -3'
Posted On 2014-02-11