Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Pars2'

368836

Institutional Source

Beutler Lab

Gene Symbol

Pars2

Ensembl Gene

ENSMUSG00000043572

Gene Name

prolyl-tRNA synthetase (mitochondrial)(putative)

Synonyms

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106508266-106512479 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 106511407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 396 (C396*)

Ref Sequence

ENSEMBL: ENSMUSP00000102393 (fasta)

Gene Model

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

AlphaFold

Q8CFI5

Predicted Effect

probably null
Transcript: ENSMUST00000058905
AA Change: C360*

SMART Domains

Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
AA Change: C360*

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 null
Transcript: ENSMUST00000106781
AA Change: C396*

SMART Domains

Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: C396*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146966

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly 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
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
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'- CAGGGTCCACTGACAGAAAC -3'
(R):5'- AGGGGTAGCCAAGCTTGTTG -3'

Sequencing Primer
(F):5'- CTGACAGAAACCAAAGGCATTG -3'
(R):5'- CAGTCTGTTTCCAATGGTCAGG -3'

Posted On

2016-02-04