Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Oas2'

349269

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

041897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120868398-120887918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120871546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 699 (K699R)

Ref Sequence

ENSEMBL: ENSMUSP00000080209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053909] [ENSMUST00000081491]

AlphaFold

E9Q9A9

Predicted Effect

probably benign
Transcript: ENSMUST00000053909
AA Change: K699R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: K699R

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: K699R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: K699R

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: K209R

SMART Domains

Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
AA Change: K209R

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	45	233	2.8e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147941

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,447 (GRCm39)	V44A	probably benign	Het
Abr	C	T	11: 76,399,845 (GRCm39)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,156,208 (GRCm39)		probably null	Het
Agbl1	A	G	7: 76,063,433 (GRCm39)	T47A	probably benign	Het
Akap13	G	T	7: 75,316,301 (GRCm39)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankar	T	A	1: 72,686,343 (GRCm39)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,667,939 (GRCm39)	H166R	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arl16	A	G	11: 120,356,610 (GRCm39)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,457,186 (GRCm39)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,167,537 (GRCm39)	R138W	probably damaging	Het
Auts2	G	A	5: 131,501,113 (GRCm39)	T309M	probably damaging	Het
C6	A	T	15: 4,789,350 (GRCm39)	K265I	probably benign	Het
Casz1	A	G	4: 149,036,312 (GRCm39)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,238,271 (GRCm39)	H181P	probably benign	Het
Chpf2	A	G	5: 24,796,829 (GRCm39)	T592A	probably benign	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Cmip	A	G	8: 118,174,150 (GRCm39)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 47,874,605 (GRCm39)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,403,562 (GRCm39)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,467,110 (GRCm39)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,325,272 (GRCm39)	D545G	unknown	Het
Dusp7	T	A	9: 106,247,965 (GRCm39)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,917,693 (GRCm39)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Galntl6	T	A	8: 58,880,857 (GRCm39)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,220,364 (GRCm39)		probably null	Het
Hykk	T	C	9: 54,853,800 (GRCm39)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,450,886 (GRCm39)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt13	A	G	11: 100,012,050 (GRCm39)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,700,354 (GRCm39)	S102A	unknown	Het
Lrp2	A	G	2: 69,319,473 (GRCm39)		probably null	Het
Lrriq1	C	T	10: 103,057,288 (GRCm39)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,451,391 (GRCm39)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,030,579 (GRCm39)	V105M	probably damaging	Het
Mlph	G	A	1: 90,867,108 (GRCm39)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,776,947 (GRCm39)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,513,761 (GRCm39)	Y78*	probably null	Het
Nos2	T	C	11: 78,848,417 (GRCm39)	F1108S	possibly damaging	Het
Olfm5	T	C	7: 103,810,100 (GRCm39)	D87G	probably benign	Het
Oog3	A	G	4: 143,884,698 (GRCm39)	F413L	probably benign	Het
Or2c1	C	T	16: 3,656,951 (GRCm39)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,347,796 (GRCm39)	T224A	probably benign	Het
Pknox2	A	G	9: 36,805,709 (GRCm39)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,671,905 (GRCm39)		probably null	Het
Ppm1e	G	A	11: 87,122,356 (GRCm39)	P534S	probably damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,717,726 (GRCm39)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Samd12	T	A	15: 53,583,067 (GRCm39)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,901,571 (GRCm39)	V211E	probably benign	Het
Setx	C	T	2: 29,038,627 (GRCm39)	T1704I	probably benign	Het
Sltm	T	C	9: 70,486,651 (GRCm39)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,253,994 (GRCm39)	Q553H	probably damaging	Het
Svs5	G	T	2: 164,079,667 (GRCm39)	T80N	probably benign	Het
Tanc1	C	A	2: 59,626,179 (GRCm39)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,118,432 (GRCm39)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,598,909 (GRCm39)	R6W	probably benign	Het
Tex101	G	T	7: 24,367,793 (GRCm39)	C186*	probably null	Het
Timp2	C	T	11: 118,194,598 (GRCm39)	S197N	probably benign	Het
Tmem37	A	T	1: 119,995,979 (GRCm39)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,410,235 (GRCm39)	D245G	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,128,071 (GRCm39)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,614,123 (GRCm39)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,752,216 (GRCm39)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zap70	G	T	1: 36,817,539 (GRCm39)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,302,741 (GRCm39)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm39)	F501S	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAACTGACTGAACTCTTAGAGTCC -3'
(R):5'- TGTTTAACCTGGGCTGCCAG -3'

Sequencing Primer
(F):5'- CCAGTTTTTAAATCTTTGGGGGCTC -3'
(R):5'- GGCTGCCAGACACATTGTATC -3'

Posted On

2015-10-08