Mutagenetix > Incidental Mutation

Incidental Mutation 'R7710:Pars2'

594523

Institutional Source

Beutler Lab

Gene Symbol

Pars2

Ensembl Gene

ENSMUSG00000043572

Gene Name

prolyl-tRNA synthetase (mitochondrial)(putative)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R7710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106508266-106512479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106511276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 353 (Y353N)

Ref Sequence

ENSEMBL: ENSMUSP00000102393 (fasta)

Gene Model

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

AlphaFold

Q8CFI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058905
AA Change: Y317N

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

SMART Domains

Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: Y317N

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 damaging
Transcript: ENSMUST00000106781
AA Change: Y353N

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

SMART Domains

Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: Y353N

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: 99.7%
20x: 99.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,150,810 (GRCm39)	E151K		Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Cacna2d4	A	G	6: 119,251,200 (GRCm39)	I463V	probably benign	Het
Calhm4	A	T	10: 33,920,045 (GRCm39)	M74K	possibly damaging	Het
Ccdc142	T	C	6: 83,078,677 (GRCm39)	S5P	probably benign	Het
Cd300ld	C	T	11: 114,875,038 (GRCm39)	V199M	probably damaging	Het
Cep162	T	C	9: 87,114,172 (GRCm39)	Y300C	probably damaging	Het
Ces2h	C	T	8: 105,727,497 (GRCm39)	Q5*	probably null	Het
Col9a3	C	T	2: 180,251,158 (GRCm39)	L310F	probably damaging	Het
Copa	A	G	1: 171,937,411 (GRCm39)	D454G	possibly damaging	Het
Ctnnbip1	A	C	4: 149,630,277 (GRCm39)	M29L	probably benign	Het
Ctnnbl1	A	G	2: 157,616,491 (GRCm39)	D64G	probably benign	Het
Dcxr	T	A	11: 120,617,908 (GRCm39)	T23S	probably benign	Het
Dennd1b	T	A	1: 138,990,670 (GRCm39)	H211Q	probably damaging	Het
Ercc8	G	A	13: 108,320,397 (GRCm39)	A328T	probably benign	Het
Fam217a	T	C	13: 35,095,111 (GRCm39)	D216G	possibly damaging	Het
Fat2	T	A	11: 55,201,589 (GRCm39)	Y495F	probably benign	Het
Fbxw13	G	A	9: 109,024,968 (GRCm39)	S15F	probably damaging	Het
Fras1	T	A	5: 96,792,962 (GRCm39)	C964*	probably null	Het
Fshr	T	A	17: 89,292,683 (GRCm39)	H665L	probably benign	Het
Gm10447	A	T	11: 53,347,437 (GRCm39)	C31S	unknown	Het
Gm13272	A	T	4: 88,698,586 (GRCm39)	Q167L	probably benign	Het
Gtpbp2	T	C	17: 46,478,713 (GRCm39)	I510T	possibly damaging	Het
Hps6	G	A	19: 45,993,007 (GRCm39)	A315T	probably benign	Het
Igfbp6	A	C	15: 102,056,285 (GRCm39)	T115P	probably damaging	Het
Ikzf4	A	G	10: 128,468,610 (GRCm39)	V623A	possibly damaging	Het
Il11ra1	T	C	4: 41,764,846 (GRCm39)	V100A	probably benign	Het
Ints1	T	C	5: 139,756,840 (GRCm39)	T493A	probably benign	Het
Itgax	C	T	7: 127,735,028 (GRCm39)	T453I	probably benign	Het
Kras	T	C	6: 145,166,354 (GRCm39)	T183A	probably benign	Het
Lhcgr	T	C	17: 89,050,210 (GRCm39)	T439A	probably damaging	Het
Lrrn4	T	C	2: 132,721,451 (GRCm39)	H122R	probably benign	Het
Muc2	A	T	7: 141,287,452 (GRCm39)	R210S	possibly damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo18b	T	C	5: 113,022,891 (GRCm39)	D167G	unknown	Het
Nedd8	G	A	14: 55,909,446 (GRCm39)		probably benign	Het
Or5b94	A	C	19: 12,652,340 (GRCm39)	Y257S	probably damaging	Het
Pbxip1	T	A	3: 89,355,408 (GRCm39)	D642E	probably damaging	Het
Pcdhb10	A	T	18: 37,546,654 (GRCm39)	R577*	probably null	Het
Pcna-ps2	T	A	19: 9,261,489 (GRCm39)	Y249*	probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pla2g6	A	T	15: 79,171,358 (GRCm39)	V744E	probably damaging	Het
Ppfibp1	A	G	6: 146,897,903 (GRCm39)	I207V	probably benign	Het
Prr11	T	C	11: 86,994,433 (GRCm39)	D71G	probably benign	Het
Rnf150	A	C	8: 83,590,781 (GRCm39)	Y48S	probably damaging	Het
Rsf1	G	A	7: 97,331,041 (GRCm39)	G1237D		Het
Rusc2	C	T	4: 43,416,119 (GRCm39)	T475I	probably benign	Het
Scgb1b20	T	A	7: 33,072,867 (GRCm39)	I25N	probably damaging	Het
Sdr39u1	T	C	14: 56,137,116 (GRCm39)	N65S	probably benign	Het
Sh3gl3	T	C	7: 81,933,294 (GRCm39)	V219A	possibly damaging	Het
Shcbp1	A	G	8: 4,814,965 (GRCm39)	F171S	probably benign	Het
Shq1	A	G	6: 100,648,006 (GRCm39)	F6S	probably damaging	Het
Slc12a4	C	T	8: 106,672,203 (GRCm39)	R868H	possibly damaging	Het
Smg6	T	C	11: 74,821,445 (GRCm39)	V572A	probably benign	Het
Syn3	A	G	10: 86,243,534 (GRCm39)	V135A	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Tmem253	A	T	14: 52,254,608 (GRCm39)	Q21L	possibly damaging	Het
Trpm3	G	T	19: 22,896,154 (GRCm39)	R997L	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Ugt1a9	A	G	1: 87,998,831 (GRCm39)	T94A	probably benign	Het
Vmn1r62	A	G	7: 5,678,182 (GRCm39)		probably benign	Het
Vmn2r61	T	C	7: 41,916,472 (GRCm39)	C362R	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp94	T	C	7: 24,003,107 (GRCm39)	K112E	probably benign	Het
Zfp954	A	T	7: 7,120,889 (GRCm39)	V47E	probably damaging	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
R6860:Pars2	UTSW	4	106,511,700 (GRCm39)	missense	probably benign	0.45
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'- CATGAATTCCAGCTACCAGTGG -3'
(R):5'- CAATCTCTGTGGCTGCTGTC -3'

Sequencing Primer
(F):5'- ATTCCAGCTACCAGTGGACATTGG -3'
(R):5'- CCTTGCTGCCTTTCTTAGGGG -3'

Posted On

2019-11-12