Mutagenetix > Incidental Mutation

Incidental Mutation 'R2204:Sars2'

238910

Institutional Source

Beutler Lab

Gene Symbol

Sars2

Ensembl Gene

ENSMUSG00000070699

Gene Name

seryl-aminoacyl-tRNA synthetase 2

Synonyms

D7Ertd353e, 2410015F05Rik

MMRRC Submission

040206-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R2204 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28449099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000092216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094632] [ENSMUST00000207877]

AlphaFold

Q9JJL8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094632
AA Change: V302A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: V302A

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	58	174	3.8e-8	PFAM
Pfam:tRNA-synt_2b	284	468	5.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207897

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	A	G	3: 107,140,943 (GRCm39)		probably benign	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Acsf3	C	T	8: 123,540,383 (GRCm39)	S527F	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Bap1	T	C	14: 30,978,658 (GRCm39)	V23A	probably benign	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Ceacam11	C	T	7: 17,709,273 (GRCm39)	T157I	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Chrnb4	G	A	9: 54,951,132 (GRCm39)	R44C	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Espl1	A	G	15: 102,214,340 (GRCm39)	E693G	probably damaging	Het
Fat1	G	T	8: 45,476,737 (GRCm39)	A1928S	probably damaging	Het
Fiz1	C	T	7: 5,011,685 (GRCm39)	E278K	probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Hlcs	T	C	16: 94,032,011 (GRCm39)	T451A	probably benign	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ift52	G	A	2: 162,873,150 (GRCm39)	S221N	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,280 (GRCm39)	K212N	possibly damaging	Het
Ndufb7	A	G	8: 84,297,528 (GRCm39)	H61R	probably damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10j2	T	A	1: 173,097,703 (GRCm39)		probably null	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Or7d11	T	C	9: 19,966,507 (GRCm39)	N84S	possibly damaging	Het
P3h4	G	A	11: 100,304,832 (GRCm39)	A185V	probably benign	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Pramel32	A	T	4: 88,546,355 (GRCm39)	L329Q	probably damaging	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Speg	A	T	1: 75,407,121 (GRCm39)	T3137S	probably benign	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stard9	GAAA	GAA	2: 120,529,012 (GRCm39)		probably null	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Taco1	C	T	11: 105,962,760 (GRCm39)	A149V	probably benign	Het
Tenm3	T	C	8: 49,127,585 (GRCm39)	E31G	probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trabd2b	T	C	4: 114,460,191 (GRCm39)	L443P	probably damaging	Het
Trip4	T	A	9: 65,771,547 (GRCm39)	I328F	probably damaging	Het
Trpc3	A	G	3: 36,704,298 (GRCm39)	F553S	possibly damaging	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	Het

Other mutations in Sars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Sars2	APN	7	28,452,848 (GRCm39)	unclassified	probably benign
IGL01376:Sars2	APN	7	28,449,308 (GRCm39)	missense	probably damaging	1.00
IGL01633:Sars2	APN	7	28,446,974 (GRCm39)	missense	probably benign	0.02
IGL02121:Sars2	APN	7	28,451,950 (GRCm39)	unclassified	probably benign
IGL02488:Sars2	APN	7	28,441,585 (GRCm39)	nonsense	probably null
IGL03062:Sars2	APN	7	28,446,206 (GRCm39)	missense	possibly damaging	0.89
R1601:Sars2	UTSW	7	28,448,396 (GRCm39)	missense	probably benign	0.26
R1857:Sars2	UTSW	7	28,449,437 (GRCm39)	missense	probably benign	0.00
R1859:Sars2	UTSW	7	28,443,737 (GRCm39)	missense	probably damaging	0.99
R2193:Sars2	UTSW	7	28,448,422 (GRCm39)	missense	probably damaging	0.96
R4452:Sars2	UTSW	7	28,449,518 (GRCm39)	missense	probably benign	0.08
R4514:Sars2	UTSW	7	28,441,709 (GRCm39)	critical splice donor site	probably null
R4921:Sars2	UTSW	7	28,451,863 (GRCm39)	missense	possibly damaging	0.81
R5121:Sars2	UTSW	7	28,447,333 (GRCm39)	missense	probably damaging	0.99
R5434:Sars2	UTSW	7	28,449,716 (GRCm39)	missense	probably null	1.00
R5849:Sars2	UTSW	7	28,443,683 (GRCm39)	missense	possibly damaging	0.92
R6668:Sars2	UTSW	7	28,446,429 (GRCm39)	missense	probably benign	0.01
R7123:Sars2	UTSW	7	28,452,866 (GRCm39)	missense	probably benign	0.40
R7205:Sars2	UTSW	7	28,443,733 (GRCm39)	missense	probably benign
R7677:Sars2	UTSW	7	28,446,176 (GRCm39)	missense	probably benign	0.07
R7902:Sars2	UTSW	7	28,441,628 (GRCm39)	missense	probably benign	0.29
R8084:Sars2	UTSW	7	28,449,710 (GRCm39)	missense	probably damaging	1.00
R8320:Sars2	UTSW	7	28,446,293 (GRCm39)	missense	probably damaging	1.00
R9057:Sars2	UTSW	7	28,446,246 (GRCm39)	missense
R9350:Sars2	UTSW	7	28,447,273 (GRCm39)	missense	probably damaging	1.00
R9461:Sars2	UTSW	7	28,449,438 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGTCAGTCACAGTGTGGG -3'
(R):5'- CTGCCATTACCCACAGGAAG -3'

Sequencing Primer
(F):5'- CAGCTATTGGATGGGTCACAC -3'
(R):5'- GTCAGTGAGATTTCAAGTAGAACCCC -3'

Posted On

2014-10-02