Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Aars2'

506075

Institutional Source

Beutler Lab

Gene Symbol

Aars2

Ensembl Gene

ENSMUSG00000023938

Gene Name

alanyl-tRNA synthetase 2, mitochondrial

Synonyms

Aarsl

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6255 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

45817767-45831769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45825535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 333 (G333S)

Ref Sequence

ENSEMBL: ENSMUSP00000024733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024733]

AlphaFold

Q14CH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024733
AA Change: G333S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: G333S

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:tRNA-synt_2c	36	619	4e-175	PFAM
low complexity region	663	674	N/A	INTRINSIC
tRNA_SAD	716	774	2.65e-10	SMART
coiled coil region	833	863	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp2c55	T	C	19: 39,007,111 (GRCm39)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,955,317 (GRCm39)	A323D	possibly damaging	Het
Panx2	G	A	15: 88,951,821 (GRCm39)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,896,564 (GRCm39)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp831	T	C	2: 174,488,214 (GRCm39)	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	probably benign	Het

Other mutations in Aars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02958:Aars2	APN	17	45,829,098 (GRCm39)	missense	probably benign	0.00
dread_pirate	UTSW	17	45,827,490 (GRCm39)	missense	probably damaging	1.00
R0266:Aars2	UTSW	17	45,818,436 (GRCm39)	splice site	probably benign
R0315:Aars2	UTSW	17	45,826,378 (GRCm39)	missense	possibly damaging	0.67
R0375:Aars2	UTSW	17	45,825,476 (GRCm39)	missense	probably damaging	0.99
R0629:Aars2	UTSW	17	45,818,473 (GRCm39)	missense	probably damaging	0.99
R0981:Aars2	UTSW	17	45,831,257 (GRCm39)	missense	probably damaging	1.00
R1878:Aars2	UTSW	17	45,825,564 (GRCm39)	critical splice donor site	probably null
R1893:Aars2	UTSW	17	45,825,725 (GRCm39)	missense	probably benign	0.14
R2035:Aars2	UTSW	17	45,825,727 (GRCm39)	missense	possibly damaging	0.87
R2099:Aars2	UTSW	17	45,817,820 (GRCm39)	missense	unknown
R4342:Aars2	UTSW	17	45,827,421 (GRCm39)	missense	probably benign
R4600:Aars2	UTSW	17	45,827,847 (GRCm39)	missense	probably damaging	1.00
R4601:Aars2	UTSW	17	45,827,847 (GRCm39)	missense	probably damaging	1.00
R4610:Aars2	UTSW	17	45,827,847 (GRCm39)	missense	probably damaging	1.00
R5158:Aars2	UTSW	17	45,825,755 (GRCm39)	missense	probably benign	0.07
R5943:Aars2	UTSW	17	45,828,637 (GRCm39)	missense	probably benign	0.30
R5992:Aars2	UTSW	17	45,819,549 (GRCm39)	nonsense	probably null
R6381:Aars2	UTSW	17	45,829,471 (GRCm39)	missense	probably benign	0.04
R6392:Aars2	UTSW	17	45,825,526 (GRCm39)	missense	probably damaging	0.98
R6406:Aars2	UTSW	17	45,817,865 (GRCm39)	missense	probably benign	0.16
R6648:Aars2	UTSW	17	45,827,490 (GRCm39)	missense	probably damaging	1.00
R7135:Aars2	UTSW	17	45,819,887 (GRCm39)	nonsense	probably null
R7197:Aars2	UTSW	17	45,819,885 (GRCm39)	missense	probably damaging	1.00
R7203:Aars2	UTSW	17	45,827,497 (GRCm39)	missense	probably damaging	1.00
R7289:Aars2	UTSW	17	45,818,550 (GRCm39)	missense	probably damaging	0.99
R7669:Aars2	UTSW	17	45,831,221 (GRCm39)	missense	probably benign	0.06
R8303:Aars2	UTSW	17	45,818,523 (GRCm39)	missense	probably damaging	1.00
R8772:Aars2	UTSW	17	45,827,903 (GRCm39)	missense	probably benign	0.19
R8795:Aars2	UTSW	17	45,818,598 (GRCm39)	missense	probably damaging	0.99
R9069:Aars2	UTSW	17	45,818,523 (GRCm39)	missense	probably damaging	1.00
R9206:Aars2	UTSW	17	45,820,330 (GRCm39)	missense	probably benign	0.03
R9342:Aars2	UTSW	17	45,818,002 (GRCm39)	missense	possibly damaging	0.94
R9467:Aars2	UTSW	17	45,827,410 (GRCm39)	missense	probably benign	0.01
R9730:Aars2	UTSW	17	45,829,534 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTACAGGATGTGGTGGTCAG -3'
(R):5'- AACTAGCCTGGAGGGTTTCAG -3'

Sequencing Primer
(F):5'- TTATGGCTGTGAACAAGCATGCAC -3'
(R):5'- GTTTCAGAGCACAGACGTGACC -3'

Posted On

2018-02-28