Mutagenetix > Incidental Mutation

Incidental Mutation 'R6893:Ppa1'

538168

Institutional Source

Beutler Lab

Gene Symbol

Ppa1

Ensembl Gene

ENSMUSG00000020089

Gene Name

pyrophosphatase (inorganic) 1

Synonyms

Pyp, 2010317E03Rik

MMRRC Submission

044987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6893 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

61484400-61509944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61508182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 270 (C270S)

Ref Sequence

ENSEMBL: ENSMUSP00000020286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020286]

AlphaFold

Q9D819

Predicted Effect

probably benign
Transcript: ENSMUST00000020286
AA Change: C270S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020286
Gene: ENSMUSG00000020089
AA Change: C270S

Domain	Start	End	E-Value	Type
Pfam:Pyrophosphatase	46	228	2.3e-60	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (49/49)

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 a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,368,770 (GRCm39)	D538V	probably damaging	Het
Akap9	T	C	5: 4,011,709 (GRCm39)	I804T	probably benign	Het
Amy1	T	C	3: 113,357,281 (GRCm39)	E186G	probably benign	Het
Best1	A	G	19: 9,974,446 (GRCm39)	Y33H	probably damaging	Het
Cacna1s	C	A	1: 136,005,431 (GRCm39)	N405K	probably benign	Het
Casp7	T	C	19: 56,421,741 (GRCm39)	Y60H	probably damaging	Het
Ccdc61	T	C	7: 18,626,488 (GRCm39)	N367S	possibly damaging	Het
Cnksr3	A	T	10: 7,085,129 (GRCm39)		probably null	Het
Col14a1	A	C	15: 55,308,044 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,323,784 (GRCm39)	K424*	probably null	Het
Dnai3	T	C	3: 145,786,184 (GRCm39)	E366G	probably damaging	Het
Dpep3	T	C	8: 106,700,474 (GRCm39)	K411E	probably benign	Het
Ebf2	T	A	14: 67,475,008 (GRCm39)	V81E	probably benign	Het
Ehbp1	G	T	11: 21,964,945 (GRCm39)	T1084K	probably damaging	Het
Fastkd2	C	T	1: 63,770,953 (GRCm39)	A103V	possibly damaging	Het
Gtf3c2	T	C	5: 31,323,722 (GRCm39)	K525E	probably benign	Het
Hdac2	A	G	10: 36,873,003 (GRCm39)	E287G	probably damaging	Het
Ifi207	T	A	1: 173,555,208 (GRCm39)	T832S	possibly damaging	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Lef1	A	G	3: 130,909,149 (GRCm39)	D55G	possibly damaging	Het
Lipo2	G	T	19: 33,698,407 (GRCm39)	Y323*	probably null	Het
Mettl24	C	T	10: 40,613,794 (GRCm39)	R178C	probably damaging	Het
Naa80	A	G	9: 107,460,225 (GRCm39)	E40G	probably damaging	Het
Ndrg4	C	A	8: 96,433,229 (GRCm39)	C66*	probably null	Het
Nemf	A	G	12: 69,399,110 (GRCm39)	V140A	probably benign	Het
Nid2	T	A	14: 19,839,855 (GRCm39)	F815I	probably benign	Het
Or4c108	A	G	2: 88,804,143 (GRCm39)	F31L	probably benign	Het
Or5b106	A	C	19: 13,123,106 (GRCm39)	S306A	probably benign	Het
Or8b12c	A	C	9: 37,716,141 (GRCm39)	*311C	probably null	Het
Or8b3b	A	T	9: 38,584,355 (GRCm39)	N141K	possibly damaging	Het
Or8k30	A	G	2: 86,339,136 (GRCm39)	E111G	probably damaging	Het
Pcdhga3	T	C	18: 37,809,598 (GRCm39)	S684P	probably benign	Het
Plch1	A	T	3: 63,660,562 (GRCm39)	C352*	probably null	Het
Plscr2	G	A	9: 92,172,757 (GRCm39)	V139I	probably benign	Het
Ryr2	T	A	13: 11,844,540 (GRCm39)	M399L	possibly damaging	Het
Scn3a	A	G	2: 65,356,098 (GRCm39)	V212A	possibly damaging	Het
Serpina3b	A	G	12: 104,099,285 (GRCm39)	K267E	probably benign	Het
Shroom3	A	G	5: 93,090,063 (GRCm39)	T938A	probably damaging	Het
Specc1	A	C	11: 62,023,279 (GRCm39)	S115R	probably benign	Het
Stim2	C	T	5: 54,210,787 (GRCm39)	T74I	probably benign	Het
Sult6b2	T	A	6: 142,750,025 (GRCm39)	D31V	possibly damaging	Het
Tbc1d24	A	T	17: 24,401,492 (GRCm39)	W406R	probably damaging	Het
Tmprss11b	A	G	5: 86,811,245 (GRCm39)		probably null	Het
Trappc9	A	G	15: 72,797,499 (GRCm39)	Y575H	possibly damaging	Het
Trim63	C	T	4: 134,050,412 (GRCm39)	T232M	probably damaging	Het
Ttn	A	T	2: 76,598,180 (GRCm39)	S19578T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Xpo4	T	A	14: 57,819,767 (GRCm39)	E1139D	probably benign	Het

Other mutations in Ppa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Ppa1	APN	10	61,501,215 (GRCm39)	missense	probably benign	0.12
IGL02489:Ppa1	APN	10	61,501,223 (GRCm39)	missense	probably damaging	0.99
hotpot	UTSW	10	61,502,749 (GRCm39)	missense	probably damaging	1.00
R0635:Ppa1	UTSW	10	61,502,749 (GRCm39)	missense	probably damaging	1.00
R0635:Ppa1	UTSW	10	61,501,219 (GRCm39)	missense	probably benign	0.02
R1925:Ppa1	UTSW	10	61,487,388 (GRCm39)	nonsense	probably null
R2283:Ppa1	UTSW	10	61,496,788 (GRCm39)	nonsense	probably null
R2394:Ppa1	UTSW	10	61,508,163 (GRCm39)	splice site	probably benign
R6180:Ppa1	UTSW	10	61,503,431 (GRCm39)	missense	probably benign
R6823:Ppa1	UTSW	10	61,503,382 (GRCm39)	missense	probably damaging	1.00
R6999:Ppa1	UTSW	10	61,496,796 (GRCm39)	missense	probably damaging	1.00
R7298:Ppa1	UTSW	10	61,502,691 (GRCm39)	missense	probably benign	0.20
R8427:Ppa1	UTSW	10	61,496,704 (GRCm39)	missense	possibly damaging	0.91
R8743:Ppa1	UTSW	10	61,496,758 (GRCm39)	missense	possibly damaging	0.84
R9159:Ppa1	UTSW	10	61,496,784 (GRCm39)	missense	probably damaging	1.00
R9335:Ppa1	UTSW	10	61,484,562 (GRCm39)	missense	possibly damaging	0.83
R9776:Ppa1	UTSW	10	61,487,362 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATTGACCTCTTATCAGCTCACAC -3'
(R):5'- ATAAACACGGGTCCTCCAGC -3'

Sequencing Primer
(F):5'- ACACCCTCCATTGTTCCTATAAG -3'
(R):5'- TGTGAGGGGATACATTTCCTAAC -3'

Posted On

2018-11-06