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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL01388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120886657 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
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
| 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 |
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
T |
G |
17: 68,160,034 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
A |
C |
8: 105,561,236 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,645,264 (GRCm39) |
M924K |
probably benign |
Het |
| Commd4 |
G |
A |
9: 57,063,273 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
| Cyp2a22 |
C |
T |
7: 26,637,217 (GRCm39) |
R189H |
probably benign |
Het |
| Gapdhrt |
T |
C |
14: 11,281,836 (GRCm38) |
D33G |
probably damaging |
Het |
| Gm20426 |
T |
C |
6: 90,155,694 (GRCm39) |
|
probably benign |
Het |
| Gm6802 |
T |
G |
12: 19,540,546 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv8-21 |
A |
G |
6: 70,292,153 (GRCm39) |
S30P |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,023,586 (GRCm39) |
Y65H |
probably damaging |
Het |
| Mpzl1 |
T |
C |
1: 165,433,336 (GRCm39) |
D105G |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,736,703 (GRCm39) |
I451V |
possibly damaging |
Het |
| Nos2 |
G |
T |
11: 78,848,278 (GRCm39) |
V1062L |
probably damaging |
Het |
| Or1j19 |
G |
T |
2: 36,677,367 (GRCm39) |
V277L |
probably benign |
Het |
| Or5w11 |
T |
A |
2: 87,458,973 (GRCm39) |
H55Q |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,379 (GRCm39) |
Y120* |
probably null |
Het |
| Or8g37 |
A |
G |
9: 39,731,298 (GRCm39) |
D121G |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,877,546 (GRCm39) |
L367P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,405,464 (GRCm39) |
T439A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,369,312 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,543,108 (GRCm39) |
W155R |
probably damaging |
Het |
| Prl7c1 |
C |
A |
13: 27,960,198 (GRCm39) |
A115S |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,590 (GRCm39) |
I78V |
possibly damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,944,002 (GRCm39) |
V292E |
probably benign |
Het |
| Ptprs |
G |
A |
17: 56,728,261 (GRCm39) |
R908C |
probably damaging |
Het |
| Rps6ka1 |
C |
T |
4: 133,599,275 (GRCm39) |
V51I |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,504,332 (GRCm39) |
I492V |
probably benign |
Het |
| Trappc2 |
G |
A |
X: 165,232,775 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,554 (GRCm39) |
V739A |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,136,018 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
G |
A |
6: 124,200,791 (GRCm39) |
P389S |
possibly damaging |
Het |
| Wipi2 |
T |
A |
5: 142,646,798 (GRCm39) |
F212I |
possibly damaging |
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 |
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation