Incidental Mutation 'R7639:Oas2'
| ID |
590126 |
| 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 |
045697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 120883751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 244
(W244*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053909]
[ENSMUST00000081491]
|
| AlphaFold |
E9Q9A9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053909
AA Change: W244*
|
| SMART Domains |
Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: W244*
| 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 null
Transcript: ENSMUST00000081491
AA Change: W244*
|
| SMART Domains |
Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: W244*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,977,531 (GRCm39) |
M381L |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,669,173 (GRCm39) |
L184Q |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,697,614 (GRCm39) |
V410A |
possibly damaging |
Het |
| Bhmt2 |
C |
T |
13: 93,799,822 (GRCm39) |
G205R |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,502 (GRCm39) |
D405G |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,648 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
T |
4: 45,928,043 (GRCm39) |
I1193F |
possibly damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,143 (GRCm39) |
C478R |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,814,073 (GRCm39) |
E1950K |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
| Defa34 |
A |
T |
8: 22,155,883 (GRCm39) |
K24I |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,582,769 (GRCm39) |
D136Y |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,141,254 (GRCm39) |
V1258F |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,716 (GRCm39) |
S1181P |
probably damaging |
Het |
| Evl |
A |
G |
12: 108,652,362 (GRCm39) |
D366G |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,798 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,018,134 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
T |
A |
7: 18,870,560 (GRCm39) |
V393E |
probably damaging |
Het |
| Gkap1 |
T |
G |
13: 58,411,784 (GRCm39) |
K63T |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,037,791 (GRCm39) |
D742V |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,046,341 (GRCm39) |
V515A |
possibly damaging |
Het |
| Itga10 |
G |
A |
3: 96,556,898 (GRCm39) |
V207I |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,357,743 (GRCm39) |
Y274F |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,526 (GRCm39) |
S36R |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,021 (GRCm39) |
M244K |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,860 (GRCm39) |
N574S |
probably benign |
Het |
| Nlrc4 |
C |
T |
17: 74,754,952 (GRCm39) |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,168,530 (GRCm39) |
I163N |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,206 (GRCm39) |
D192G |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,235,187 (GRCm39) |
M273T |
possibly damaging |
Het |
| Poln |
A |
C |
5: 34,290,495 (GRCm39) |
V60G |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,800,049 (GRCm39) |
A699E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,844,750 (GRCm39) |
M19K |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,184 (GRCm39) |
L89P |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,244 (GRCm39) |
S116P |
probably damaging |
Het |
| Rtn3 |
C |
T |
19: 7,435,356 (GRCm39) |
C212Y |
probably benign |
Het |
| Smcp |
G |
A |
3: 92,491,797 (GRCm39) |
P17S |
unknown |
Het |
| Syne2 |
A |
C |
12: 75,981,273 (GRCm39) |
E1525A |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,158 (GRCm39) |
D172G |
probably benign |
Het |
| Traf2 |
TAGA |
TA |
2: 25,427,100 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,957,137 (GRCm39) |
T760A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,840,450 (GRCm39) |
S134C |
probably damaging |
Het |
| Zfp729b |
C |
T |
13: 67,739,971 (GRCm39) |
V765I |
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 |
|
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'- ATACAGTAGGGCATGGTGGC -3'
(R):5'- GCTCCAATGAGAATCCCAGC -3'
Sequencing Primer
(F):5'- TGGCTTTGGTCCCAGGAC -3'
(R):5'- ATGAGAATCCCAGCTCCTGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation