Mutagenetix > Incidental Mutation

Incidental Mutation 'R6730:Pars2'

530009

Institutional Source

Beutler Lab

Gene Symbol

Pars2

Ensembl Gene

ENSMUSG00000043572

Gene Name

prolyl-tRNA synthetase (mitochondrial)(putative)

Synonyms

MMRRC Submission

044848-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R6730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106508266-106512479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106510628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 128 (L128F)

Ref Sequence

ENSEMBL: ENSMUSP00000102394 (fasta)

Gene Model

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

AlphaFold

Q8CFI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058905
AA Change: L101F

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

SMART Domains

Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: L101F

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: L137F

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

SMART Domains

Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: L137F

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 damaging
Transcript: ENSMUST00000106782
AA Change: L128F

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

SMART Domains

Protein: ENSMUSP00000102394
Gene: ENSMUSG00000043572
AA Change: L128F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146966

Meta Mutation Damage Score

0.3324

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	A	3: 116,777,124 (GRCm39)	*59R	probably null	Het
Adam10	G	T	9: 70,647,458 (GRCm39)		probably null	Het
Adam2	A	T	14: 66,275,025 (GRCm39)	N569K	possibly damaging	Het
Adam20	T	C	8: 41,249,696 (GRCm39)	V602A	probably benign	Het
Adgrb3	T	C	1: 25,133,375 (GRCm39)	Y1237C	probably damaging	Het
Ago3	T	C	4: 126,265,338 (GRCm39)	T318A	probably null	Het
Aknad1	G	A	3: 108,659,655 (GRCm39)	G223D	possibly damaging	Het
Camkv	T	C	9: 107,825,516 (GRCm39)	S478P	possibly damaging	Het
Ccl27a	T	A	4: 41,773,342 (GRCm39)	H39L	probably damaging	Het
Ccser2	C	A	14: 36,601,043 (GRCm39)	S447I	probably damaging	Het
Clvs2	A	G	10: 33,404,517 (GRCm39)	L233P	probably damaging	Het
Csn1s2b	T	A	5: 87,970,127 (GRCm39)	H124Q	probably benign	Het
Dnhd1	T	C	7: 105,353,082 (GRCm39)	L2745P	probably benign	Het
Dync1i2	T	A	2: 71,077,484 (GRCm39)	F219L	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ephb6	C	T	6: 41,594,308 (GRCm39)	Q613*	probably null	Het
Erc2	A	C	14: 27,620,524 (GRCm39)	D50A	possibly damaging	Het
Fam149a	T	A	8: 45,834,211 (GRCm39)	D196V	probably damaging	Het
Ficd	T	C	5: 113,876,773 (GRCm39)	V316A	probably damaging	Het
Gstm6	T	A	3: 107,850,041 (GRCm39)	K18*	probably null	Het
Ighv1-62-1	A	T	12: 115,350,512 (GRCm39)	W52R	probably benign	Het
Klhl18	C	T	9: 110,257,979 (GRCm39)	C417Y	probably damaging	Het
Ly9	T	A	1: 171,432,737 (GRCm39)	Y92F	probably benign	Het
Mettl18	C	T	1: 163,824,750 (GRCm39)	T357I	probably damaging	Het
Myoz2	C	A	3: 122,810,276 (GRCm39)	G100C	probably damaging	Het
Or10a49	A	T	7: 108,467,780 (GRCm39)	F194I	probably benign	Het
Or4k47	A	G	2: 111,452,080 (GRCm39)	V113A	probably damaging	Het
Or7h8	T	C	9: 20,123,798 (GRCm39)	I51T	probably benign	Het
Pcsk6	G	T	7: 65,629,996 (GRCm39)	R374L	probably damaging	Het
Ptpn3	T	C	4: 57,270,088 (GRCm39)	T25A	probably benign	Het
Rab11fip1	G	A	8: 27,633,257 (GRCm39)	P1150S	probably damaging	Het
Rabep1	A	G	11: 70,831,212 (GRCm39)	Q831R	possibly damaging	Het
Rad17	T	C	13: 100,786,253 (GRCm39)		probably benign	Het
Rxfp1	T	A	3: 79,557,898 (GRCm39)	R527*	probably null	Het
Scnn1b	C	T	7: 121,502,100 (GRCm39)	P253S	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc2a7	T	C	4: 150,242,605 (GRCm39)	F231S	probably damaging	Het
Svil	A	G	18: 5,049,311 (GRCm39)	N196S	probably benign	Het
Tent5c	T	A	3: 100,380,273 (GRCm39)	N161I	probably benign	Het
Urb1	T	C	16: 90,575,971 (GRCm39)	S862G	possibly damaging	Het
Usp30	T	C	5: 114,241,770 (GRCm39)	S87P	probably damaging	Het
Vmn1r177	T	A	7: 23,565,237 (GRCm39)	H213L	probably damaging	Het
Vmn2r106	T	A	17: 20,499,096 (GRCm39)	I272L	possibly damaging	Het
Vmn2r120	T	A	17: 57,832,012 (GRCm39)	D259V	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
R6860:Pars2	UTSW	4	106,511,700 (GRCm39)	missense	probably benign	0.45
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'- AGCGCTTGGTATTATCCCGC -3'
(R):5'- AGTTTCTTCTGGGAGGCAAC -3'

Sequencing Primer
(F):5'- GGTATTATCCCGCATGTTCCAG -3'
(R):5'- AACCGCTTCCTCATGAGTCGG -3'

Posted On

2018-08-01