Mutagenetix > Incidental Mutation

Incidental Mutation 'R9266:Oas2'

702539

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120868398-120887918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120887637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 68 (Y68N)

Ref Sequence

ENSEMBL: ENSMUSP00000080209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044833] [ENSMUST00000053909] [ENSMUST00000081491] [ENSMUST00000165820]

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: Y68N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: Y68N

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: Y68N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: Y68N

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

probably benign
Transcript: ENSMUST00000165820

SMART Domains

Protein: ENSMUSP00000125873
Gene: ENSMUSG00000032661

Domain	Start	End	E-Value	Type
Pfam:OAS1_C	1	130	3.8e-53	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	A	17: 36,270,178 (GRCm39)	E627*	probably null	Het
Aoc1l2	A	G	6: 48,907,171 (GRCm39)	N57S	probably benign	Het
Arhgap42	A	G	9: 9,006,386 (GRCm39)	V670A	probably benign	Het
Arhgef16	C	A	4: 154,375,922 (GRCm39)	R24L	probably benign	Het
Atad2	A	T	15: 57,985,967 (GRCm39)	D251E	probably benign	Het
Atf2	T	C	2: 73,649,271 (GRCm39)	S447G	probably benign	Het
Atp8b1	T	C	18: 64,704,108 (GRCm39)	M337V	probably benign	Het
Atp8b1	C	T	18: 64,710,528 (GRCm39)	D170N	possibly damaging	Het
Azin2	C	A	4: 128,856,230 (GRCm39)		probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh19	A	G	1: 110,817,771 (GRCm39)	L657P	probably damaging	Het
Crybg3	A	T	16: 59,372,544 (GRCm39)	V598E	probably damaging	Het
Cwc22	A	G	2: 77,754,952 (GRCm39)	I208T	probably benign	Het
Cyp4a32	T	A	4: 115,468,307 (GRCm39)	D292E	probably damaging	Het
Dnah10	G	A	5: 124,845,990 (GRCm39)	V1510I	probably benign	Het
Dpp3	G	T	19: 4,964,686 (GRCm39)	Y540*	probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Elf1	A	G	14: 79,798,290 (GRCm39)	D59G	probably benign	Het
Epc1	A	T	18: 6,449,219 (GRCm39)	M476K	probably benign	Het
Espnl	C	A	1: 91,272,771 (GRCm39)	S710R	probably benign	Het
Fam171b	T	C	2: 83,683,926 (GRCm39)	W148R	probably damaging	Het
Fhod1	A	G	8: 106,065,531 (GRCm39)	L88P	unknown	Het
Frmd4a	A	G	2: 4,610,846 (GRCm39)	S999G	probably damaging	Het
Glmp	T	C	3: 88,233,036 (GRCm39)	I58T	probably damaging	Het
Gm45861	T	A	8: 28,074,674 (GRCm39)	D1341E	unknown	Het
Gpr179	A	G	11: 97,227,766 (GRCm39)	I1463T	probably benign	Het
Gsdmc2	T	C	15: 63,698,088 (GRCm39)	E339G	probably damaging	Het
Insm1	A	T	2: 146,064,933 (GRCm39)	I250F	probably damaging	Het
Insm1	G	A	2: 146,064,943 (GRCm39)	G253D	possibly damaging	Het
Itih1	A	T	14: 30,652,222 (GRCm39)	S824T	probably damaging	Het
Lactb	A	G	9: 66,878,499 (GRCm39)	Y190H	possibly damaging	Het
Lrba	T	C	3: 86,198,774 (GRCm39)	M197T	probably benign	Het
Lrrc4c	A	G	2: 97,459,853 (GRCm39)	I160V	probably benign	Het
Lrrc59	A	T	11: 94,532,044 (GRCm39)		probably null	Het
Ltk	A	T	2: 119,585,121 (GRCm39)	M425K	possibly damaging	Het
Map9	T	C	3: 82,278,594 (GRCm39)	V198A	possibly damaging	Het
Mms22l	T	C	4: 24,578,878 (GRCm39)	Y746H	probably damaging	Het
Ms4a4b	A	G	19: 11,432,060 (GRCm39)	I60M	probably benign	Het
Mtif2	T	C	11: 29,480,065 (GRCm39)	W44R	probably benign	Het
Nadsyn1	A	T	7: 143,369,348 (GRCm39)	W128R	probably damaging	Het
Nrcam	G	A	12: 44,636,917 (GRCm39)	A1117T	probably damaging	Het
Ntng1	G	A	3: 110,050,923 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 110,051,162 (GRCm39)	F56L	unknown	Het
Or4c119	A	T	2: 88,986,854 (GRCm39)	F222I	possibly damaging	Het
Or5b101	A	C	19: 13,005,648 (GRCm39)	L15R	probably damaging	Het
Or6c6c	T	C	10: 129,541,547 (GRCm39)	S267P	probably benign	Het
Pals2	T	C	6: 50,140,463 (GRCm39)	M161T	probably benign	Het
Paqr8	C	T	1: 21,005,863 (GRCm39)	T339I	probably benign	Het
Pcdhga10	A	G	18: 37,881,814 (GRCm39)	E525G	probably benign	Het
Psg28	T	G	7: 18,161,752 (GRCm39)	L250F	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc16a4	A	T	3: 107,199,788 (GRCm39)	T12S	probably benign	Het
Slc9b1	A	G	3: 135,054,468 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,598,808 (GRCm39)	S1471P	probably damaging	Het
Smpdl3a	T	C	10: 57,678,596 (GRCm39)	V133A	possibly damaging	Het
Snap23	C	T	2: 120,414,781 (GRCm39)		probably benign	Het
Spp2	A	G	1: 88,344,975 (GRCm39)	M146V	probably benign	Het
Syf2	C	A	4: 134,663,321 (GRCm39)	N164K	possibly damaging	Het
Sync	T	G	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tex56	A	G	13: 35,116,569 (GRCm39)	K106R	possibly damaging	Het
Tmigd3	T	C	3: 105,824,216 (GRCm39)	F62L	probably benign	Het
Trpa1	C	T	1: 14,980,953 (GRCm39)		probably null	Het
U2surp	A	T	9: 95,366,468 (GRCm39)	I480N	probably damaging	Het
Usf3	C	T	16: 44,040,095 (GRCm39)	T1525I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,057 (GRCm39)	I841M	probably damaging	Het
Zfp335	T	A	2: 164,738,007 (GRCm39)	Q868L	probably benign	Het
Zscan10	A	G	17: 23,828,385 (GRCm39)	E309G	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
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
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
R9428:Oas2	UTSW	5	120,887,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGGCACAATGCTCAG -3'
(R):5'- ACGATGGGAAACTGGCTGAC -3'

Sequencing Primer
(F):5'- GCTCAGCACCACCACCTTTG -3'
(R):5'- CTGACTGGAAACTGGTCATCTGAC -3'

Posted On

2022-03-25