Incidental Mutation 'R7459:Oas2'
ID 578306
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 045533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 120868398-120887918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120887775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 22 (S22A)
Ref Sequence ENSEMBL: ENSMUSP00000080209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044833] [ENSMUST00000053909] [ENSMUST00000081491] [ENSMUST00000165820]
AlphaFold E9Q9A9
Predicted Effect probably benign
Transcript: ENSMUST00000044833
SMART Domains Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661

DomainStartEndE-ValueType
Pfam:OAS1_C 159 341 6.3e-83 PFAM
Pfam:OAS1_C 610 795 3.1e-78 PFAM
Pfam:NTP_transf_2 831 920 4.5e-11 PFAM
Pfam:OAS1_C 954 1136 9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053909
AA Change: S22A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: S22A

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 unknown
Transcript: ENSMUST00000081491
AA Change: S22A
SMART Domains Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: S22A

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 probably benign
Transcript: ENSMUST00000165820
SMART Domains Protein: ENSMUSP00000125873
Gene: ENSMUSG00000032661

DomainStartEndE-ValueType
Pfam:OAS1_C 1 130 3.8e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging 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
R0361:Oas2 UTSW 5 120,876,466 (GRCm39) missense probably damaging 0.99
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
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'- GCCTGGTCTATCTGCTTCAGAG -3'
(R):5'- ACTCCCACACTTGAGTTTCG -3'

Sequencing Primer
(F):5'- GGTCTATCTGCTTCAGAGATTCTC -3'
(R):5'- ACACTTGAGTTTCGATTTCCTAGG -3'
Posted On 2019-10-07