Incidental Mutation 'IGL01937:Ppa1'
ID180724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppa1
Ensembl Gene ENSMUSG00000020089
Gene Namepyrophosphatase (inorganic) 1
SynonymsPyp, 2010317E03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01937
Quality Score
Status
Chromosome10
Chromosomal Location61648552-61674168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 61665436 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 161 (V161M)
Ref Sequence ENSEMBL: ENSMUSP00000020286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020286]
Predicted Effect probably benign
Transcript: ENSMUST00000020286
AA Change: V161M

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020286
Gene: ENSMUSG00000020089
AA Change: V161M

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 46 228 2.3e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162028
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Abcb11 G T 2: 69,287,612 P474H probably damaging Het
Actn1 T C 12: 80,171,763 N749S probably benign Het
Atf7ip2 T A 16: 10,241,537 probably null Het
Brinp3 A T 1: 146,901,140 T442S probably benign Het
Cdh7 A G 1: 110,138,096 N700S probably benign Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
D430042O09Rik A G 7: 125,854,605 T1165A probably benign Het
Dlc1 G T 8: 36,850,191 S443R probably benign Het
Evi2b T A 11: 79,516,067 K227N probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Hemgn T C 4: 46,396,057 Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Mmp14 T C 14: 54,437,596 probably benign Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Olfr1080 A G 2: 86,553,449 V225A probably benign Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Pcnx3 A G 19: 5,677,663 V1031A probably benign Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Prrc2a A C 17: 35,155,591 I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 S140T probably benign Het
Ptprm A G 17: 67,046,163 probably benign Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rfx3 A T 19: 27,830,729 Y205N probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Selenop C T 15: 3,279,268 T234M probably benign Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Vmn2r84 A G 10: 130,385,886 C822R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Ppa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7298:Ppa1 UTSW 10 61666912 missense probably benign 0.20
Posted On2014-05-07