Incidental Mutation 'IGL03297:Oas2'
| ID |
416130 |
| 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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL03297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120873150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 635
(D635A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053909]
[ENSMUST00000081491]
|
| AlphaFold |
E9Q9A9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053909
AA Change: D635A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: D635A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000081491
AA Change: D635A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: D635A
| Domain | Start | End | E-Value | Type |
|---|
|
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: D145A
|
| SMART Domains |
Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
AA Change: D145A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
45 |
233 |
2.8e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147941
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
| Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
| Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
| Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
| Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
| Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
| Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
| Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
| Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
| Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
| Other mutations in Oas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation