Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Ppa2'

64097

Institutional Source

Beutler Lab

Gene Symbol

Ppa2

Ensembl Gene

ENSMUSG00000028013

Gene Name

pyrophosphatase (inorganic) 2

Synonyms

Sid6306, 1110013G13Rik

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0098 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

133015871-133083996 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 133076234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029644] [ENSMUST00000106315] [ENSMUST00000122334]

AlphaFold

Q91VM9

Predicted Effect

probably benign
Transcript: ENSMUST00000029644

SMART Domains

Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Pyrophosphatase	89	271	8.4e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106315

SMART Domains

Protein: ENSMUSP00000101922
Gene: ENSMUSG00000028013

Domain	Start	End	E-Value	Type
Pfam:Pyrophosphatase	1	97	7.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122334

SMART Domains

Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
Pfam:Pyrophosphatase	88	272	1.5e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125858

SMART Domains

Protein: ENSMUSP00000117201
Gene: ENSMUSG00000028013

Domain	Start	End	E-Value	Type
Pfam:Pyrophosphatase	37	146	8.8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150386

SMART Domains

Protein: ENSMUSP00000115462
Gene: ENSMUSG00000028013

Domain	Start	End	E-Value	Type
Pfam:Pyrophosphatase	15	132	1.7e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196807

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Acp3	C	T	9: 104,197,144 (GRCm39)		probably null	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fam237b	T	A	5: 5,625,355 (GRCm39)	L17Q	possibly damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Myo18a	A	G	11: 77,736,591 (GRCm39)	E1564G	probably damaging	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,573,920 (GRCm39)	W62R	probably damaging	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Stat2	T	A	10: 128,119,131 (GRCm39)	H428Q	probably damaging	Het
Stat5a	A	T	11: 100,766,452 (GRCm39)	Q378L	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tnnt1	T	C	7: 4,512,044 (GRCm39)	N155S	probably damaging	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vmn2r66	A	C	7: 84,654,965 (GRCm39)	M448R	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het
Zfp985	T	C	4: 147,661,566 (GRCm39)	S4P	probably damaging	Het

Other mutations in Ppa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02070:Ppa2	APN	3	133,083,623 (GRCm39)	missense	probably damaging	1.00
IGL02662:Ppa2	APN	3	133,073,644 (GRCm39)	missense	probably damaging	0.99
IGL02726:Ppa2	APN	3	133,076,222 (GRCm39)	missense	possibly damaging	0.46
R0098:Ppa2	UTSW	3	133,076,234 (GRCm39)	splice site	probably benign
R1868:Ppa2	UTSW	3	133,053,858 (GRCm39)	missense	probably damaging	1.00
R2082:Ppa2	UTSW	3	133,076,178 (GRCm39)	missense	probably benign	0.00
R2096:Ppa2	UTSW	3	133,032,445 (GRCm39)	missense	probably damaging	1.00
R2851:Ppa2	UTSW	3	133,026,764 (GRCm39)	splice site	probably null
R3611:Ppa2	UTSW	3	133,053,867 (GRCm39)	missense	probably benign	0.07
R4299:Ppa2	UTSW	3	133,073,603 (GRCm39)	missense	probably damaging	1.00
R4660:Ppa2	UTSW	3	133,032,445 (GRCm39)	missense	probably damaging	1.00
R4735:Ppa2	UTSW	3	133,076,186 (GRCm39)	missense	probably benign	0.29
R5023:Ppa2	UTSW	3	133,076,195 (GRCm39)	missense	probably benign	0.08
R5881:Ppa2	UTSW	3	133,036,200 (GRCm39)	missense	probably damaging	0.96
R6284:Ppa2	UTSW	3	133,076,178 (GRCm39)	missense	probably benign	0.00
R7194:Ppa2	UTSW	3	133,053,953 (GRCm39)	critical splice donor site	probably null
R7203:Ppa2	UTSW	3	133,036,199 (GRCm39)	missense	possibly damaging	0.93
R7787:Ppa2	UTSW	3	133,036,259 (GRCm39)	missense	probably damaging	1.00
R7839:Ppa2	UTSW	3	133,082,351 (GRCm39)	critical splice donor site	probably null
R8428:Ppa2	UTSW	3	133,053,904 (GRCm39)	missense	probably damaging	1.00
R8698:Ppa2	UTSW	3	133,082,362 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACTAAGGCAGCTTTTCCACTCG -3'
(R):5'- GATGCTCTGTGAACCAAATGCACC -3'

Sequencing Primer
(F):5'- GTTTGCCCAGTTCCAGCG -3'
(R):5'- GAAATGAACCACTTTGGATTCCTAGC -3'

Posted On

2013-08-06