Mutagenetix > Incidental Mutation

Incidental Mutation 'R6860:Pars2'

535420

Institutional Source

Beutler Lab

Gene Symbol

Pars2

Ensembl Gene

ENSMUSG00000043572

Gene Name

prolyl-tRNA synthetase (mitochondrial)(putative)

Synonyms

MMRRC Submission

045025-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106508266-106512479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106511700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 494 (V494G)

Ref Sequence

ENSEMBL: ENSMUSP00000102393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058905] [ENSMUST00000106781] [ENSMUST00000106782]

AlphaFold

Q8CFI5

Predicted Effect

probably benign
Transcript: ENSMUST00000058905
AA Change: V458G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: V458G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2b	98	268	4.8e-36	PFAM
Pfam:HGTP_anticodon	371	470	8.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106781
AA Change: V494G

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: V494G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2b	178	391	4.1e-36	PFAM
Pfam:HGTP_anticodon	407	506	3.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106782

SMART Domains

Protein: ENSMUSP00000102394
Gene: ENSMUSG00000043572

Domain	Start	End	E-Value	Type
PDB:2I4O\|C	63	162	2e-8	PDB
SCOP:d1atia2	95	162	4e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,080,412 (GRCm39)	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,395,071 (GRCm39)	V28L	possibly damaging	Het
Abtb2	C	T	2: 103,539,770 (GRCm39)	R712*	probably null	Het
Acvr1c	C	T	2: 58,177,717 (GRCm39)	G171S	probably damaging	Het
Ahctf1	G	T	1: 179,580,853 (GRCm39)	A1783E	probably benign	Het
Anapc4	A	T	5: 53,006,170 (GRCm39)	Q149L	probably damaging	Het
Ankrd27	T	C	7: 35,327,952 (GRCm39)	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,968,094 (GRCm39)	C577S	probably benign	Het
Apol7c	T	C	15: 77,410,274 (GRCm39)	N224S	probably benign	Het
Arl14	A	T	3: 69,130,029 (GRCm39)	T59S	probably benign	Het
Astn1	T	A	1: 158,440,042 (GRCm39)	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796 (GRCm39)	V335E	probably benign	Het
C2cd3	C	T	7: 100,039,448 (GRCm39)	P216S	probably benign	Het
Cchcr1	C	A	17: 35,840,015 (GRCm39)	N711K	possibly damaging	Het
Chd2	A	G	7: 73,147,558 (GRCm39)	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,838,907 (GRCm39)	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,272,572 (GRCm39)	L286H	probably damaging	Het
Cwc22	C	T	2: 77,759,792 (GRCm39)	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587 (GRCm39)	F209V	probably damaging	Het
Dmtn	T	C	14: 70,852,322 (GRCm39)	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,327,473 (GRCm39)	N777K	probably benign	Het
Dusp16	A	T	6: 134,702,842 (GRCm39)	C216*	probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,170,078 (GRCm39)	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,213,030 (GRCm39)	S306P	probably benign	Het
Ferd3l	T	C	12: 33,978,651 (GRCm39)	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,844,560 (GRCm39)	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,748,609 (GRCm39)	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,478,914 (GRCm39)		probably benign	Het
H3c7	G	T	13: 23,728,760 (GRCm39)	V36L	probably benign	Het
Hcn3	A	C	3: 89,067,152 (GRCm39)	I72S	possibly damaging	Het
Hk3	T	A	13: 55,162,278 (GRCm39)	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,737 (GRCm39)	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,779,397 (GRCm39)	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,719 (GRCm39)	G51D	probably benign	Het
Kif26a	C	A	12: 112,113,263 (GRCm39)	A53D	probably damaging	Het
Lifr	T	A	15: 7,202,418 (GRCm39)	I353K	probably benign	Het
Llph	A	T	10: 120,067,189 (GRCm39)	N102I	probably damaging	Het
Lmo3	C	A	6: 138,393,566 (GRCm39)	R18L	possibly damaging	Het
Lrrc46	T	C	11: 96,926,371 (GRCm39)	E175G	probably benign	Het
Ltk	A	T	2: 119,585,075 (GRCm39)	C128*	probably null	Het
Map1b	T	C	13: 99,571,275 (GRCm39)	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,344,655 (GRCm39)	V740A	probably damaging	Het
Miga2	T	C	2: 30,261,175 (GRCm39)	W157R	probably benign	Het
Mlip	A	G	9: 77,009,675 (GRCm39)	*837Q	probably null	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,984,217 (GRCm39)		probably benign	Het
Or1l4	T	C	2: 37,092,189 (GRCm39)	L312P	possibly damaging	Het
Or2a5	T	C	6: 42,873,750 (GRCm39)	Y122H	probably benign	Het
Or51ab3	A	G	7: 103,201,075 (GRCm39)	I28V	probably benign	Het
P3h3	A	T	6: 124,834,331 (GRCm39)	V107D	probably benign	Het
Papolb	A	T	5: 142,514,651 (GRCm39)	S331T	possibly damaging	Het
Pcdhb3	C	A	18: 37,434,763 (GRCm39)	T243K	probably benign	Het
Pde9a	T	A	17: 31,689,698 (GRCm39)	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,882,974 (GRCm39)	A201T	probably benign	Het
Prl	A	G	13: 27,248,942 (GRCm39)	N197S	possibly damaging	Het
Prl2c1	T	A	13: 28,035,724 (GRCm39)	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,737 (GRCm39)	S572G	possibly damaging	Het
Psd	T	A	19: 46,310,858 (GRCm39)	D397V	probably damaging	Het
Psme2b	A	T	11: 48,836,307 (GRCm39)	Y213*	probably null	Het
Ptcd3	T	A	6: 71,874,094 (GRCm39)		probably null	Het
Ptprk	T	G	10: 28,210,480 (GRCm39)	F167L	probably damaging	Het
Rfx7	T	C	9: 72,524,226 (GRCm39)	V472A	probably damaging	Het
Sanbr	A	G	11: 23,575,100 (GRCm39)	L58P	probably damaging	Het
Scnn1g	T	C	7: 121,339,576 (GRCm39)	L125S	probably damaging	Het
Sec16a	T	C	2: 26,320,124 (GRCm39)	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,476,366 (GRCm39)	S155N	probably benign	Het
Slc3a2	A	T	19: 8,690,996 (GRCm39)	V78E	probably damaging	Het
Slc44a4	T	A	17: 35,140,044 (GRCm39)	L23Q	probably damaging	Het
Slco5a1	C	T	1: 12,951,420 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,605,154 (GRCm39)	M899T	probably benign	Het
Sorl1	A	G	9: 41,933,688 (GRCm39)	I1094T	probably benign	Het
Spag9	T	A	11: 93,972,196 (GRCm39)	L258Q	probably benign	Het
Strip1	T	C	3: 107,526,252 (GRCm39)	E488G	possibly damaging	Het
Stx18	G	A	5: 38,262,235 (GRCm39)	D30N	possibly damaging	Het
Sync	T	C	4: 129,181,583 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,358,849 (GRCm39)	V220A	probably damaging	Het
Tagln2	T	C	1: 172,333,476 (GRCm39)	I110T	probably benign	Het
Taok1	T	C	11: 77,432,627 (GRCm39)	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,106,759 (GRCm39)	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,327,957 (GRCm39)	T24A	probably benign	Het
Tnxb	T	A	17: 34,932,131 (GRCm39)	D2221E	probably damaging	Het
Triml1	A	G	8: 43,583,603 (GRCm39)	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,029,594 (GRCm39)	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,655,732 (GRCm39)	I737S	possibly damaging	Het
U2af2	A	T	7: 5,082,273 (GRCm39)	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631 (GRCm39)	N86K	probably damaging	Het
Uso1	A	G	5: 92,343,207 (GRCm39)	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,372,122 (GRCm39)	M33L	probably benign	Het

Other mutations in Pars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Pars2	APN	4	106,511,247 (GRCm39)	missense	probably damaging	0.99
IGL03358:Pars2	APN	4	106,510,239 (GRCm39)	missense	probably benign	0.00
PIT4378001:Pars2	UTSW	4	106,511,490 (GRCm39)	missense	possibly damaging	0.51
R1384:Pars2	UTSW	4	106,510,913 (GRCm39)	missense	possibly damaging	0.75
R1874:Pars2	UTSW	4	106,510,913 (GRCm39)	missense	possibly damaging	0.75
R1875:Pars2	UTSW	4	106,510,913 (GRCm39)	missense	possibly damaging	0.75
R2041:Pars2	UTSW	4	106,510,814 (GRCm39)	missense	probably damaging	1.00
R4606:Pars2	UTSW	4	106,511,247 (GRCm39)	missense	probably benign	0.22
R4790:Pars2	UTSW	4	106,508,308 (GRCm39)	utr 5 prime	probably benign
R4794:Pars2	UTSW	4	106,511,407 (GRCm39)	nonsense	probably null
R5162:Pars2	UTSW	4	106,511,735 (GRCm39)	missense	probably benign	0.00
R6066:Pars2	UTSW	4	106,511,276 (GRCm39)	missense	probably damaging	1.00
R6730:Pars2	UTSW	4	106,510,628 (GRCm39)	missense	probably damaging	1.00
R7710:Pars2	UTSW	4	106,511,276 (GRCm39)	missense	probably damaging	1.00
R7712:Pars2	UTSW	4	106,511,276 (GRCm39)	missense	probably damaging	1.00
R7817:Pars2	UTSW	4	106,511,276 (GRCm39)	missense	probably damaging	1.00
R7870:Pars2	UTSW	4	106,511,276 (GRCm39)	missense	probably damaging	1.00
R8707:Pars2	UTSW	4	106,510,359 (GRCm39)	missense	probably damaging	0.99
Z1177:Pars2	UTSW	4	106,511,643 (GRCm39)	missense	probably damaging	1.00
Z1177:Pars2	UTSW	4	106,510,296 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACATCATGGAGGCTGTGC -3'
(R):5'- CGGAGTTAATGGCTACATACAAACC -3'

Sequencing Primer
(F):5'- TGTGCCCCAGCTCCGAG -3'
(R):5'- GAGGAGTAGAGTTTTTCCTAACACGC -3'

Posted On

2018-09-12