Incidental Mutation 'R7968:Oas2'
| ID |
650457 |
| 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 |
046011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120876437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 502
(V502A)
|
| 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: V502A
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: V502A
| 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 benign
Transcript: ENSMUST00000081491
AA Change: V502A
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: V502A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
45 |
233 |
2.8e-88 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,441 (GRCm39) |
T35A |
|
Het |
| Adamts16 |
A |
C |
13: 70,886,701 (GRCm39) |
S1030A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aff4 |
C |
T |
11: 53,300,175 (GRCm39) |
T1026I |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,145 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,108,070 (GRCm39) |
D192Y |
probably damaging |
Het |
| Arhgef3 |
G |
A |
14: 27,116,062 (GRCm39) |
R268Q |
probably damaging |
Het |
| Atp6v0e |
T |
A |
17: 26,913,885 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
A |
G |
2: 34,728,257 (GRCm39) |
N19D |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,181,551 (GRCm39) |
Y605H |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,048 (GRCm39) |
V332A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,091,118 (GRCm39) |
H219R |
|
Het |
| Csnk1g3 |
C |
T |
18: 54,028,726 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,116 (GRCm39) |
V263A |
possibly damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
G |
T |
19: 23,962,091 (GRCm39) |
T304K |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gstm4 |
A |
T |
3: 107,951,677 (GRCm39) |
M35K |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,460 (GRCm39) |
Y347C |
possibly damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,566,444 (GRCm39) |
T829M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,400,898 (GRCm39) |
V682A |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kera |
A |
G |
10: 97,444,821 (GRCm39) |
E60G |
possibly damaging |
Het |
| Letm2 |
C |
T |
8: 26,083,766 (GRCm39) |
G155D |
probably damaging |
Het |
| Lrfn4 |
G |
A |
19: 4,663,343 (GRCm39) |
A397V |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,324,424 (GRCm39) |
Q1253R |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,315,287 (GRCm39) |
M145K |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,529,295 (GRCm39) |
C201R |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,493 (GRCm39) |
E710G |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,154 (GRCm39) |
S137G |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,595 (GRCm39) |
C247* |
probably null |
Het |
| Or52h7 |
A |
T |
7: 104,213,857 (GRCm39) |
H143L |
probably benign |
Het |
| Parg |
A |
T |
14: 31,936,327 (GRCm39) |
H494L |
possibly damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,464 (GRCm39) |
D600E |
probably benign |
Het |
| Ppef2 |
G |
A |
5: 92,397,022 (GRCm39) |
R118C |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,959,675 (GRCm39) |
N57K |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,832,081 (GRCm39) |
S29T |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,942,605 (GRCm39) |
R69S |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,528,007 (GRCm39) |
T419A |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,611,649 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
C |
T |
1: 8,535,760 (GRCm39) |
W288* |
probably null |
Het |
| Synpo2l |
G |
T |
14: 20,716,870 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
G |
17: 34,413,886 (GRCm39) |
I634V |
probably damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,983 (GRCm39) |
S278P |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,428 (GRCm39) |
S871P |
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,040,179 (GRCm39) |
V225A |
possibly damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
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 |
|
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 |
|
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'- GTCTATTGTAGCCATGCACCTGC -3'
(R):5'- TCTGAAGCGGGGATCAGATG -3'
Sequencing Primer
(F):5'- CTAGGATTGGTAGAGAGTTTCAGCTC -3'
(R):5'- CGGGGATCAGATGCTGACATTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation