Incidental Mutation 'IGL01388:Oas2'
ID 79121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oas2
Ensembl Gene ENSMUSG00000032690
Gene Name 2'-5' oligoadenylate synthetase 2
Synonyms 2'-5' oligoadenylate synthetase-like 11, Oasl11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL01388
Quality Score
Status
Chromosome 5
Chromosomal Location 120730333-120749853 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120748592 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 170 (S170P)
Ref Sequence ENSEMBL: ENSMUSP00000080209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044833] [ENSMUST00000053909] [ENSMUST00000081491]
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: S170P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: S170P

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: S170P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: S170P

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 noncoding transcript
Transcript: ENSMUST00000201095
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 T G 17: 67,853,039 probably benign Het
Ces2b A C 8: 104,834,604 probably benign Het
Col20a1 T A 2: 181,003,471 M924K probably benign Het
Commd4 G A 9: 57,155,989 probably benign Het
Ctnna3 A G 10: 63,504,107 E24G possibly damaging Het
Cyp2a22 C T 7: 26,937,792 R189H probably benign Het
Gm20426 T C 6: 90,178,712 probably benign Het
Gm3839 T C 14: 11,281,836 D33G probably damaging Het
Gm6802 T G 12: 19,490,545 noncoding transcript Het
Igkv8-21 A G 6: 70,315,169 S30P probably benign Het
Lig4 A G 8: 9,973,586 Y65H probably damaging Het
Mpzl1 T C 1: 165,605,767 D105G probably benign Het
Myo10 A G 15: 25,736,617 I451V possibly damaging Het
Nos2 G T 11: 78,957,452 V1062L probably damaging Het
Olfr1131 T A 2: 87,628,629 H55Q probably benign Het
Olfr348 G T 2: 36,787,355 V277L probably benign Het
Olfr918 A T 9: 38,673,083 Y120* probably null Het
Olfr970 A G 9: 39,820,002 D121G probably damaging Het
Pcdh7 T C 5: 57,720,204 L367P probably damaging Het
Pde3a A G 6: 141,459,738 T439A probably damaging Het
Plekhm2 T C 4: 141,642,001 Y124C probably damaging Het
Ppp4r4 T A 12: 103,576,849 W155R probably damaging Het
Prl7c1 C A 13: 27,776,215 A115S probably damaging Het
Psg25 T C 7: 18,529,665 I78V possibly damaging Het
Ptpn9 T A 9: 57,036,718 V292E probably benign Het
Ptprs G A 17: 56,421,261 R908C probably damaging Het
Rps6ka1 C T 4: 133,871,964 V51I probably damaging Het
Scube1 T C 15: 83,620,131 I492V probably benign Het
Trappc2 G A X: 166,449,779 probably benign Het
Ubr4 T C 4: 139,460,243 V739A possibly damaging Het
Unc79 T C 12: 103,169,759 probably benign Het
Vmn2r27 G A 6: 124,223,832 P389S possibly damaging Het
Wipi2 T A 5: 142,661,043 F212I possibly damaging Het
Other mutations in Oas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Oas2 APN 5 120738363 missense probably damaging 1.00
IGL00784:Oas2 APN 5 120738363 missense probably damaging 1.00
IGL01643:Oas2 APN 5 120736187 splice site probably benign
IGL01660:Oas2 APN 5 120741223 missense probably benign 0.00
IGL02346:Oas2 APN 5 120736088 missense probably benign 0.30
IGL02403:Oas2 APN 5 120748750 missense possibly damaging 0.59
IGL03297:Oas2 APN 5 120735085 missense possibly damaging 0.91
R0149:Oas2 UTSW 5 120738401 missense probably damaging 0.99
R0344:Oas2 UTSW 5 120743087 missense probably damaging 1.00
R0361:Oas2 UTSW 5 120738401 missense probably damaging 0.99
R0387:Oas2 UTSW 5 120745672 splice site probably benign
R0465:Oas2 UTSW 5 120735055 missense probably damaging 0.99
R2100:Oas2 UTSW 5 120745675 critical splice donor site probably null
R2324:Oas2 UTSW 5 120743274 missense probably benign 0.43
R2496:Oas2 UTSW 5 120748617 missense probably benign 0.00
R4357:Oas2 UTSW 5 120738669 critical splice donor site probably null
R4466:Oas2 UTSW 5 120749602 missense probably damaging 0.99
R4472:Oas2 UTSW 5 120741155 missense possibly damaging 0.81
R4632:Oas2 UTSW 5 120733481 missense probably benign 0.34
R4714:Oas2 UTSW 5 120733472 missense probably damaging 1.00
R4824:Oas2 UTSW 5 120738346 missense probably benign 0.32
R4872:Oas2 UTSW 5 120738534 missense probably damaging 1.00
R5629:Oas2 UTSW 5 120738451 nonsense probably null
R6351:Oas2 UTSW 5 120748538 missense probably benign
R6463:Oas2 UTSW 5 120734981 missense probably null 1.00
R6488:Oas2 UTSW 5 120738363 missense probably damaging 1.00
R6787:Oas2 UTSW 5 120738798 missense possibly damaging 0.77
R6945:Oas2 UTSW 5 120736139 missense probably benign 0.00
R7353:Oas2 UTSW 5 120738522 missense probably damaging 1.00
R7459:Oas2 UTSW 5 120749710 missense unknown
R7634:Oas2 UTSW 5 120733228 missense probably benign 0.18
R7639:Oas2 UTSW 5 120745686 nonsense probably null
R7958:Oas2 UTSW 5 120748766 missense probably benign 0.00
R7968:Oas2 UTSW 5 120738372 missense probably benign 0.38
R8158:Oas2 UTSW 5 120749773 start codon destroyed probably null
R8915:Oas2 UTSW 5 120738384 missense possibly damaging 0.88
R9266:Oas2 UTSW 5 120749572 missense probably damaging 1.00
R9428:Oas2 UTSW 5 120749511 missense probably damaging 1.00
Posted On 2013-11-05