Incidental Mutation 'R4466:Oas2'
ID 330344
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 041723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4466 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120868398-120887918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120887667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 58 (S58P)
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 damaging
Transcript: ENSMUST00000053909
AA Change: S58P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: S58P

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: S58P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: S58P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201095
Meta Mutation Damage Score 0.1316 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,745,887 (GRCm39) noncoding transcript Het
Adgra1 T A 7: 139,420,752 (GRCm39) probably benign Het
Akap13 T A 7: 75,252,521 (GRCm39) probably null Het
Amn1 T C 6: 149,068,343 (GRCm39) probably null Het
Ano5 T A 7: 51,220,023 (GRCm39) F374I probably damaging Het
Apol7c T C 15: 77,410,664 (GRCm39) E94G probably benign Het
Arid4b A T 13: 14,307,095 (GRCm39) S117C probably damaging Het
Atm C A 9: 53,359,469 (GRCm39) E2778* probably null Het
Cped1 A T 6: 22,123,651 (GRCm39) Q468L probably benign Het
Crygb A G 1: 65,119,645 (GRCm39) S112P probably damaging Het
Eeig2 T A 3: 108,887,124 (GRCm39) R291S probably benign Het
Eml4 C T 17: 83,729,103 (GRCm39) Q93* probably null Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fhad1 A T 4: 141,684,969 (GRCm39) S457T probably damaging Het
Frmd4b A G 6: 97,300,614 (GRCm39) probably null Het
Gm5134 G C 10: 75,844,409 (GRCm39) K588N probably benign Het
Gpr21 A G 2: 37,407,570 (GRCm39) T39A probably benign Het
Irx1 C A 13: 72,108,101 (GRCm39) G194W probably damaging Het
Itgal C T 7: 126,927,684 (GRCm39) T992I possibly damaging Het
Itpr3 T C 17: 27,325,316 (GRCm39) L1303P probably damaging Het
Kdm2a A T 19: 4,370,328 (GRCm39) D1052E probably damaging Het
Klhl6 T C 16: 19,776,018 (GRCm39) D180G probably damaging Het
M6pr A G 6: 122,290,228 (GRCm39) T64A probably benign Het
Mrpl47 G A 3: 32,784,240 (GRCm39) R177* probably null Het
Mtfr2 A G 10: 20,224,159 (GRCm39) Y31C probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Or1j11 A T 2: 36,312,308 (GRCm39) R299S probably benign Het
Or5b124 G A 19: 13,610,801 (GRCm39) E109K probably damaging Het
Or8b36 T A 9: 37,937,479 (GRCm39) C126S probably damaging Het
Polr1b A T 2: 128,965,802 (GRCm39) I815L probably benign Het
Psma8 T C 18: 14,854,231 (GRCm39) I37T possibly damaging Het
Ryr3 T C 2: 112,483,447 (GRCm39) E4100G possibly damaging Het
Serpina3g C T 12: 104,204,182 (GRCm39) probably benign Het
Serpina3m A T 12: 104,357,874 (GRCm39) Y266F probably damaging Het
Sez6l2 T A 7: 126,559,023 (GRCm39) D423E probably damaging Het
Sh3gl2 A G 4: 85,299,688 (GRCm39) E224G possibly damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc24a2 A T 4: 87,146,099 (GRCm39) probably benign Het
Smyd2 A G 1: 189,614,349 (GRCm39) M393T probably benign Het
Sox8 C A 17: 25,787,879 (GRCm39) G190V probably benign Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stk35 C A 2: 129,643,436 (GRCm39) T140K probably damaging Het
Taf6 A C 5: 138,179,463 (GRCm39) probably benign Het
Ten1 A C 11: 116,095,823 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttn A G 2: 76,544,044 (GRCm39) F32981L probably damaging Het
Zik1 G T 7: 10,224,893 (GRCm39) T68K probably benign Het
Zzef1 T A 11: 72,815,485 (GRCm39) I2935N 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
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'- CTGTGTGGCACAATGCTCAG -3'
(R):5'- ATGGGAAACTGGCTGACTGG -3'

Sequencing Primer
(F):5'- TTTGGGAACAGCGAACTCTC -3'
(R):5'- CTGACTGGAAACTGGTCATCTGAC -3'
Posted On 2015-07-21