Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Ppa2'

252178

Institutional Source

Beutler Lab

Gene Symbol

Ppa2

Ensembl Gene

ENSMUSG00000028013

Gene Name

pyrophosphatase (inorganic) 2

Synonyms

Sid6306, 1110013G13Rik

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R2851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133015871-133083996 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 133026764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113369 (fasta)

Gene Model

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

AlphaFold

Q91VM9

Predicted Effect

probably null
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 null
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: ENSMUST00000153387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198519

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mthfsd	G	A	8: 121,832,512 (GRCm39)	T60I	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Timm22	G	A	11: 76,304,925 (GRCm39)	A188T	probably damaging	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly 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
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
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'- TGCAACAAGTCTCGAAAGCC -3'
(R):5'- TCATAGTCTGTAAATGCCTCCC -3'

Sequencing Primer
(F):5'- CTTTTAAGGTGTGAAGTTAGCTTTGC -3'
(R):5'- GTAAATGCCTCCCTTTCTTCTGG -3'

Posted On

2014-12-04