Incidental Mutation 'R7298:Ppa1'
ID566810
Institutional Source Beutler Lab
Gene Symbol Ppa1
Ensembl Gene ENSMUSG00000020089
Gene Namepyrophosphatase (inorganic) 1
SynonymsPyp, 2010317E03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7298 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location61648552-61674168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61666912 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 171 (D171E)
Ref Sequence ENSEMBL: ENSMUSP00000020286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020286]
Predicted Effect probably benign
Transcript: ENSMUST00000020286
AA Change: D171E

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020286
Gene: ENSMUSG00000020089
AA Change: D171E

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 46 228 2.3e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,207,883 T51S probably benign Het
Abcc1 A G 16: 14,396,472 D204G possibly damaging Het
Acaa1b C T 9: 119,151,847 E172K probably benign Het
Adamts5 G A 16: 85,899,918 T117I probably benign Het
Agmat A G 4: 141,746,964 E52G possibly damaging Het
Alg9 C T 9: 50,779,061 A121V probably damaging Het
Atf7ip2 T C 16: 10,209,168 I100T possibly damaging Het
Calm2 T C 17: 87,442,737 probably null Het
Cfap44 A T 16: 44,481,412 M1838L probably benign Het
Cym A G 3: 107,219,693 Y49H probably benign Het
Dchs1 G A 7: 105,755,131 R2735* probably null Het
Dnajc6 T C 4: 101,606,611 I187T probably benign Het
Fam151a G T 4: 106,735,528 R69L possibly damaging Het
Gm13089 C A 4: 143,698,505 D123Y probably benign Het
Gm14548 T A 7: 3,895,265 I353F possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 101,794,171 probably benign Het
Gm9922 C A 14: 101,729,525 G97V unknown Het
Hacl1 A T 14: 31,616,486 M378K probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ighv1-82 A T 12: 115,952,954 I6N possibly damaging Het
Kctd19 A C 8: 105,382,984 V942G probably benign Het
Lce1l C T 3: 92,850,176 C125Y unknown Het
Mmp8 T C 9: 7,560,448 F42S probably damaging Het
Myom2 T C 8: 15,098,411 L529P probably damaging Het
Nectin3 A T 16: 46,448,396 Y548N probably damaging Het
Olfml3 T C 3: 103,735,860 K402E probably damaging Het
Olfr1255 T C 2: 89,816,521 F59S probably damaging Het
Olfr303 T A 7: 86,394,923 T192S probably damaging Het
Otof T A 5: 30,388,270 I514F probably damaging Het
Plch1 G T 3: 63,716,037 S603* probably null Het
Prss34 T C 17: 25,299,763 C240R probably damaging Het
Ptpre A G 7: 135,683,287 D714G probably damaging Het
Ranbp9 A G 13: 43,480,460 F157L probably benign Het
Rbbp6 A G 7: 123,001,194 K1475E unknown Het
Retnlg A G 16: 48,872,874 N5D probably benign Het
Rev1 T C 1: 38,053,104 T1245A probably damaging Het
Rngtt G T 4: 33,362,927 L360F probably damaging Het
Scrib A C 15: 76,064,761 V447G probably damaging Het
Slc22a6 C A 19: 8,621,320 A247E possibly damaging Het
Slc25a20 G A 9: 108,662,144 probably benign Het
Spag16 T A 1: 69,919,426 probably null Het
Stx3 C T 19: 11,790,048 W87* probably null Het
Syngap1 T A 17: 26,962,987 M1158K possibly damaging Het
Tmed9 C A 13: 55,593,294 H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,649,785 S54N probably benign Het
Tyk2 C T 9: 21,108,860 V1001I probably benign Het
Ugt8a A G 3: 125,915,416 V15A probably benign Het
Uhrf2 A G 19: 30,088,549 E661G probably benign Het
Vmn2r77 T A 7: 86,800,771 I75N probably benign Het
Zfp346 T G 13: 55,130,603 V258G probably damaging Het
Zfp72 T A 13: 74,372,394 K188N possibly damaging Het
Zgrf1 C A 3: 127,583,650 S848* probably null Het
Other mutations in Ppa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Ppa1 APN 10 61665436 missense probably benign 0.12
IGL02489:Ppa1 APN 10 61665444 missense probably damaging 0.99
hotpot UTSW 10 61666970 missense probably damaging 1.00
R0635:Ppa1 UTSW 10 61665440 missense probably benign 0.02
R0635:Ppa1 UTSW 10 61666970 missense probably damaging 1.00
R1925:Ppa1 UTSW 10 61651609 nonsense probably null
R2283:Ppa1 UTSW 10 61661009 nonsense probably null
R2394:Ppa1 UTSW 10 61672384 splice site probably benign
R6180:Ppa1 UTSW 10 61667652 missense probably benign
R6823:Ppa1 UTSW 10 61667603 missense probably damaging 1.00
R6893:Ppa1 UTSW 10 61672403 missense probably benign 0.00
R6999:Ppa1 UTSW 10 61661017 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGTTAGTCAGGCTTGGTC -3'
(R):5'- TACTAAGTCCCGATACAAATGCTC -3'

Sequencing Primer
(F):5'- TGTCAAAGCTACTCAAAGATGCAG -3'
(R):5'- GCTCTAAAGCCACAGGTTTAAAAAG -3'
Posted On2019-06-26