Mutagenetix > Incidental Mutation

Incidental Mutation 'R7220:Mars2'

561709

Institutional Source

Beutler Lab

Gene Symbol

Mars2

Ensembl Gene

ENSMUSG00000046994

Gene Name

methionine-tRNA synthetase 2 (mitochondrial)

Synonyms

C730026E21Rik

MMRRC Submission

045292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55276336-55279217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55277222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 275 (A275D)

Ref Sequence

ENSEMBL: ENSMUSP00000049770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061334]

AlphaFold

Q499X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000061334
AA Change: A275D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: A275D

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	28	135	1.5e-6	PFAM
Pfam:tRNA-synt_1g	38	404	3.3e-109	PFAM
Pfam:tRNA-synt_1	263	376	4.4e-11	PFAM
Pfam:tRNA-synt_1e	319	387	3.4e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,837,337 (GRCm39)	H325Q	probably damaging	Het
Aasdh	T	C	5: 77,049,772 (GRCm39)	I75V	probably benign	Het
Abca14	G	A	7: 119,826,667 (GRCm39)	D438N	possibly damaging	Het
Abca8a	T	A	11: 109,980,793 (GRCm39)	I82F	probably benign	Het
Abca8b	G	T	11: 109,872,543 (GRCm39)	N19K	probably damaging	Het
Acan	A	G	7: 78,757,896 (GRCm39)	N506S		Het
Alox12e	C	A	11: 70,206,731 (GRCm39)	R652L	probably benign	Het
Atad3a	A	G	4: 155,838,498 (GRCm39)	V173A	probably benign	Het
Atl3	A	G	19: 7,506,433 (GRCm39)	K326R	probably null	Het
Atm	G	T	9: 53,423,217 (GRCm39)	C636*	probably null	Het
Atp2c2	G	A	8: 120,472,300 (GRCm39)	M451I	probably benign	Het
Best1	A	T	19: 9,969,479 (GRCm39)	M193K	probably benign	Het
Bmper	G	T	9: 23,310,651 (GRCm39)	G362C	probably damaging	Het
Brd4	T	A	17: 32,444,557 (GRCm39)	Y139F	unknown	Het
Bzw2	A	T	12: 36,173,950 (GRCm39)	I108N	possibly damaging	Het
Cbs	C	A	17: 31,838,191 (GRCm39)	V353L	probably benign	Het
Ceacam20	A	G	7: 19,701,678 (GRCm39)	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,117,436 (GRCm39)	E580K	probably damaging	Het
Ckmt1	T	C	2: 121,189,374 (GRCm39)	L15P	possibly damaging	Het
Clec18a	G	T	8: 111,808,204 (GRCm39)	P66H	probably benign	Het
Cma1	G	T	14: 56,180,120 (GRCm39)	T95K	probably benign	Het
Csmd3	A	G	15: 48,320,994 (GRCm39)	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,670,368 (GRCm39)	E632D	probably benign	Het
Ctsc	T	C	7: 87,946,361 (GRCm39)	L130P	probably damaging	Het
Frmpd2	A	T	14: 33,229,432 (GRCm39)	R339S	probably damaging	Het
Frrs1	C	A	3: 116,674,425 (GRCm39)	S69*	probably null	Het
Gcc2	A	T	10: 58,116,416 (GRCm39)	E1108D	probably benign	Het
Gkn1	A	T	6: 87,326,135 (GRCm39)		probably null	Het
Gtf2a1	A	T	12: 91,534,498 (GRCm39)	M252K	probably benign	Het
H2-Ob	T	C	17: 34,460,234 (GRCm39)	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,122,135 (GRCm39)	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,567,666 (GRCm39)	K82R	probably benign	Het
Ints1	A	T	5: 139,747,828 (GRCm39)	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,549,923 (GRCm39)	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,472,219 (GRCm39)		probably benign	Het
Man1a	A	C	10: 53,796,331 (GRCm39)	S454A	possibly damaging	Het
Nrde2	A	G	12: 100,097,178 (GRCm39)	V874A	probably benign	Het
Ociad1	A	G	5: 73,470,809 (GRCm39)	T244A	probably benign	Het
Or10j2	A	G	1: 173,097,811 (GRCm39)	Y23C	possibly damaging	Het
Or3a10	A	T	11: 73,935,589 (GRCm39)	D170E	possibly damaging	Het
Or8c9	A	T	9: 38,241,046 (GRCm39)	L51F	probably damaging	Het
Ovca2	A	G	11: 75,069,501 (GRCm39)	C41R	possibly damaging	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdh15	G	A	10: 74,178,441 (GRCm39)	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,135,297 (GRCm39)	I1038M	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,593,350 (GRCm39)	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,580,320 (GRCm39)	D618G	unknown	Het
Pramel17	A	G	4: 101,694,565 (GRCm39)	F106S	probably benign	Het
Prorp	G	A	12: 55,351,200 (GRCm39)	V170M	possibly damaging	Het
Prss51	A	T	14: 64,333,444 (GRCm39)	K18*	probably null	Het
Ptpra	T	A	2: 130,386,417 (GRCm39)	D622E	probably damaging	Het
Ptprs	A	T	17: 56,725,988 (GRCm39)	F1431L	probably benign	Het
Pxdn	A	G	12: 30,044,479 (GRCm39)	I486V	probably benign	Het
Rnpc3	G	A	3: 113,422,004 (GRCm39)	A77V	probably benign	Het
Rtl10	T	A	16: 18,320,026 (GRCm39)	C85*	probably null	Het
Skint10	A	G	4: 112,586,170 (GRCm39)	S149P	probably benign	Het
Slc17a8	A	C	10: 89,412,275 (GRCm39)	V570G	probably benign	Het
Slc25a42	A	T	8: 70,642,148 (GRCm39)	V98E	probably damaging	Het
Smco2	A	G	6: 146,760,363 (GRCm39)	E73G	probably benign	Het
Ss18	T	C	18: 14,812,477 (GRCm39)	Y38C	probably damaging	Het
Sspo	T	A	6: 48,453,540 (GRCm39)	C2909*	probably null	Het
Tbccd1	A	G	16: 22,652,747 (GRCm39)	Y125H	probably benign	Het
Tdrd9	A	G	12: 111,980,888 (GRCm39)	T446A	probably damaging	Het
Tecta	G	T	9: 42,255,183 (GRCm39)	Q1672K	probably benign	Het
Tek	G	C	4: 94,692,541 (GRCm39)	W216C	probably damaging	Het
Timm17a	C	T	1: 135,241,313 (GRCm39)		probably null	Het
Tlr4	A	T	4: 66,758,188 (GRCm39)	H327L	probably benign	Het
Trim33	T	C	3: 103,234,109 (GRCm39)	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,559 (GRCm39)	N28S	probably null	Het
Vmn2r117	T	A	17: 23,696,177 (GRCm39)	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,508,772 (GRCm39)	E500G	probably damaging	Het
Wif1	A	G	10: 120,926,019 (GRCm39)	N245S	possibly damaging	Het

Other mutations in Mars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Mars2	APN	1	55,277,155 (GRCm39)	missense	probably damaging	1.00
IGL02283:Mars2	APN	1	55,277,933 (GRCm39)	missense	probably damaging	0.99
IGL02379:Mars2	APN	1	55,277,212 (GRCm39)	missense	probably damaging	1.00
IGL02485:Mars2	APN	1	55,276,750 (GRCm39)	missense	possibly damaging	0.87
IGL03047:Mars2	UTSW	1	55,278,032 (GRCm39)	missense	probably benign
R4581:Mars2	UTSW	1	55,277,021 (GRCm39)	missense	probably damaging	1.00
R5019:Mars2	UTSW	1	55,276,468 (GRCm39)	missense	possibly damaging	0.94
R7148:Mars2	UTSW	1	55,276,673 (GRCm39)	missense	probably damaging	1.00
R7358:Mars2	UTSW	1	55,276,729 (GRCm39)	missense	probably damaging	1.00
R8035:Mars2	UTSW	1	55,277,456 (GRCm39)	missense	possibly damaging	0.50
R8683:Mars2	UTSW	1	55,277,741 (GRCm39)	missense	probably benign	0.35
R9075:Mars2	UTSW	1	55,278,154 (GRCm39)	missense	probably damaging	0.97
R9133:Mars2	UTSW	1	55,276,721 (GRCm39)	missense	possibly damaging	0.75
R9370:Mars2	UTSW	1	55,276,624 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TTTCGAGAACCACTCCAGCG -3'
(R):5'- CACGTTGCCCAAGCTTTTG -3'

Sequencing Primer
(F):5'- AACCACTCCAGCGGTGGC -3'
(R):5'- ACTCACCGTCCAGTGCGAG -3'

Posted On

2019-06-26