Incidental Mutation 'R0361:Oas2'
ID 30095
Institutional Source Beutler Lab
Gene Symbol Oas2
Ensembl Gene ENSMUSG00000032690
Gene Name 2'-5' oligoadenylate synthetase 2
Synonyms 2'-5' oligoadenylate synthetase-like 11, Oasl11
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 120868398-120887918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120876466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 492 (F492L)
Ref Sequence ENSEMBL: ENSMUSP00000080209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053909] [ENSMUST00000081491]
AlphaFold E9Q9A9
Predicted Effect probably damaging
Transcript: ENSMUST00000053909
AA Change: F492L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: F492L

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
Pfam:OAS1_C 190 378 5.6e-75 PFAM
Pfam:NTP_transf_2 412 516 4e-9 PFAM
Pfam:OAS1_C 533 724 3.2e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081491
AA Change: F492L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: F492L

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
Pfam:OAS1_C 191 376 1.9e-77 PFAM
Pfam:NTP_transf_2 412 516 1.3e-10 PFAM
Pfam:OAS1_C 534 722 2.6e-87 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146101
AA Change: F2L
SMART Domains Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
AA Change: F2L

DomainStartEndE-ValueType
Pfam:OAS1_C 45 233 2.8e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147941
Meta Mutation Damage Score 0.2820 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Oas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Oas2 APN 5 120,876,428 (GRCm39) missense probably damaging 1.00
IGL00784:Oas2 APN 5 120,876,428 (GRCm39) missense probably damaging 1.00
IGL01388:Oas2 APN 5 120,886,657 (GRCm39) missense probably damaging 1.00
IGL01643:Oas2 APN 5 120,874,252 (GRCm39) splice site probably benign
IGL01660:Oas2 APN 5 120,879,288 (GRCm39) missense probably benign 0.00
IGL02346:Oas2 APN 5 120,874,153 (GRCm39) missense probably benign 0.30
IGL02403:Oas2 APN 5 120,886,815 (GRCm39) missense possibly damaging 0.59
IGL03297:Oas2 APN 5 120,873,150 (GRCm39) missense possibly damaging 0.91
R0149:Oas2 UTSW 5 120,876,466 (GRCm39) missense probably damaging 0.99
R0344:Oas2 UTSW 5 120,881,152 (GRCm39) missense probably damaging 1.00
R0387:Oas2 UTSW 5 120,883,737 (GRCm39) splice site probably benign
R0465:Oas2 UTSW 5 120,873,120 (GRCm39) missense probably damaging 0.99
R2100:Oas2 UTSW 5 120,883,740 (GRCm39) critical splice donor site probably null
R2324:Oas2 UTSW 5 120,881,339 (GRCm39) missense probably benign 0.43
R2496:Oas2 UTSW 5 120,886,682 (GRCm39) missense probably benign 0.00
R4357:Oas2 UTSW 5 120,876,734 (GRCm39) critical splice donor site probably null
R4466:Oas2 UTSW 5 120,887,667 (GRCm39) missense probably damaging 0.99
R4472:Oas2 UTSW 5 120,879,220 (GRCm39) missense possibly damaging 0.81
R4632:Oas2 UTSW 5 120,871,546 (GRCm39) missense probably benign 0.34
R4714:Oas2 UTSW 5 120,871,537 (GRCm39) missense probably damaging 1.00
R4824:Oas2 UTSW 5 120,876,411 (GRCm39) missense probably benign 0.32
R4872:Oas2 UTSW 5 120,876,599 (GRCm39) missense probably damaging 1.00
R5629:Oas2 UTSW 5 120,876,516 (GRCm39) nonsense probably null
R6351:Oas2 UTSW 5 120,886,603 (GRCm39) missense probably benign
R6463:Oas2 UTSW 5 120,873,046 (GRCm39) missense probably null 1.00
R6488:Oas2 UTSW 5 120,876,428 (GRCm39) missense probably damaging 1.00
R6787:Oas2 UTSW 5 120,876,863 (GRCm39) missense possibly damaging 0.77
R6945:Oas2 UTSW 5 120,874,204 (GRCm39) missense probably benign 0.00
R7353:Oas2 UTSW 5 120,876,587 (GRCm39) missense probably damaging 1.00
R7459:Oas2 UTSW 5 120,887,775 (GRCm39) missense unknown
R7634:Oas2 UTSW 5 120,871,293 (GRCm39) missense probably benign 0.18
R7639:Oas2 UTSW 5 120,883,751 (GRCm39) nonsense probably null
R7958:Oas2 UTSW 5 120,886,831 (GRCm39) missense probably benign 0.00
R7968:Oas2 UTSW 5 120,876,437 (GRCm39) missense probably benign 0.38
R8158:Oas2 UTSW 5 120,887,838 (GRCm39) start codon destroyed probably null
R8915:Oas2 UTSW 5 120,876,449 (GRCm39) missense possibly damaging 0.88
R9266:Oas2 UTSW 5 120,887,637 (GRCm39) missense probably damaging 1.00
R9428:Oas2 UTSW 5 120,887,576 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTATGAGCCATCCCTGACACAC -3'
(R):5'- TGCCAAAGGCACAGCTCTGAAG -3'

Sequencing Primer
(F):5'- AGGTCTATTGTAGCCATGCAC -3'
(R):5'- CTCTGAAGCGGGGATCAGATG -3'
Posted On 2013-04-24