Incidental Mutation 'R6945:Oas2'
ID 540837
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 045059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120868398-120887918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120874204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 543 (D543G)
Ref Sequence ENSEMBL: ENSMUSP00000060082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053909] [ENSMUST00000081491]
AlphaFold E9Q9A9
Predicted Effect probably benign
Transcript: ENSMUST00000053909
AA Change: D543G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: D543G

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 benign
Transcript: ENSMUST00000081491
AA Change: D543G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: D543G

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
SMART Domains Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
AA Change: D53G

DomainStartEndE-ValueType
Pfam:OAS1_C 45 233 2.8e-88 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,218,759 (GRCm39) T208S probably benign Het
Acaa2 A G 18: 74,926,380 (GRCm39) E112G probably benign Het
Adgrb1 A G 15: 74,421,873 (GRCm39) N881S probably damaging Het
Adgre1 A G 17: 57,717,844 (GRCm39) E314G probably benign Het
Adgre1 A G 17: 57,727,399 (GRCm39) E443G probably benign Het
Akp3 A G 1: 87,053,353 (GRCm39) Y102C probably damaging Het
Birc6 A G 17: 74,886,526 (GRCm39) N618S probably benign Het
Bpifc A G 10: 85,815,078 (GRCm39) V296A probably benign Het
Cacna2d3 G A 14: 28,691,275 (GRCm39) probably benign Het
Cacnb4 T C 2: 52,364,966 (GRCm39) N99S probably damaging Het
Cd38 A G 5: 44,065,348 (GRCm39) Y283C probably damaging Het
Celf4 T A 18: 25,629,293 (GRCm39) Q411L probably damaging Het
Cemip A T 7: 83,647,755 (GRCm39) H108Q probably damaging Het
Col23a1 A G 11: 51,452,720 (GRCm39) E225G unknown Het
Dnah11 T C 12: 118,024,045 (GRCm39) E1902G probably damaging Het
Dst A G 1: 34,229,571 (GRCm39) D2063G probably damaging Het
Fsip2 A T 2: 82,823,184 (GRCm39) I6306L probably benign Het
Furin A G 7: 80,040,838 (GRCm39) S667P possibly damaging Het
Glmp T A 3: 88,233,139 (GRCm39) S92R probably benign Het
Gm11563 C G 11: 99,549,298 (GRCm39) C152S unknown Het
Gm3486 A G 14: 41,206,518 (GRCm39) V185A probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hyal1 C A 9: 107,456,369 (GRCm39) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm39) C806R probably benign Het
L1td1 T C 4: 98,621,933 (GRCm39) V165A probably benign Het
Lama1 A G 17: 68,120,861 (GRCm39) T2666A Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc8a A G 2: 30,146,239 (GRCm39) Y351C probably damaging Het
Myh7b T C 2: 155,464,152 (GRCm39) F551S possibly damaging Het
Myo19 A G 11: 84,788,386 (GRCm39) T333A probably benign Het
Nrp2 A T 1: 62,799,947 (GRCm39) N387I probably damaging Het
Or2g25 A G 17: 37,970,405 (GRCm39) I273T possibly damaging Het
Or5al6 A G 2: 85,976,428 (GRCm39) S217P probably damaging Het
Pak5 A G 2: 135,942,859 (GRCm39) V427A probably benign Het
Pfas G A 11: 68,891,356 (GRCm39) A247V probably benign Het
Pramel52-ps C T 5: 94,531,490 (GRCm39) H125Y possibly damaging Het
Psat1 T A 19: 15,894,545 (GRCm39) T115S probably benign Het
Psme4 T A 11: 30,787,437 (GRCm39) D1077E probably benign Het
Rabgap1l A G 1: 160,509,752 (GRCm39) S442P probably benign Het
Ralgapa1 A G 12: 55,822,976 (GRCm39) M280T possibly damaging Het
Rb1cc1 A T 1: 6,331,256 (GRCm39) E394D probably damaging Het
Seh1l T C 18: 67,922,460 (GRCm39) V271A probably benign Het
Sf3b1 A T 1: 55,036,315 (GRCm39) N919K probably benign Het
Sftpd A G 14: 40,896,449 (GRCm39) S245P possibly damaging Het
Slc22a15 T C 3: 101,831,430 (GRCm39) E2G probably damaging Het
Spta1 A G 1: 174,036,891 (GRCm39) D1134G possibly damaging Het
Syna A G 5: 134,587,815 (GRCm39) V378A probably damaging Het
Tchp A G 5: 114,847,411 (GRCm39) K77E possibly damaging Het
Tescl T C 7: 24,032,956 (GRCm39) N123S probably benign Het
Trio C T 15: 27,824,176 (GRCm39) R1443Q probably damaging Het
Trrap A T 5: 144,727,665 (GRCm39) Y462F possibly damaging Het
Vmn1r78 A G 7: 11,886,832 (GRCm39) T148A probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1007 A C 5: 109,824,711 (GRCm39) N246K 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
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
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'- CAAAGCCTGTGTCTCAGTTCAC -3'
(R):5'- AAGATCCTCTTTGGCTACATAGCAAG -3'

Sequencing Primer
(F):5'- AACCAACAACCAGCTTGGC -3'
(R):5'- CATAGCAAGTTGAATGCCATCTTGGG -3'
Posted On 2018-11-28