Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01388:Oas2'

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

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

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: 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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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