Incidental Mutation 'R0098:Ppa2'
ID17200
Institutional Source Beutler Lab
Gene Symbol Ppa2
Ensembl Gene ENSMUSG00000028013
Gene Namepyrophosphatase (inorganic) 2
Synonyms1110013G13Rik, Sid6306
MMRRC Submission 038384-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #R0098 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location133310110-133378235 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 133370473 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029644] [ENSMUST00000106315] [ENSMUST00000122334]
Predicted Effect probably benign
Transcript: ENSMUST00000029644
SMART Domains Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 1 97 7.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122334
SMART Domains Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 37 146 8.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150386
SMART Domains Protein: ENSMUSP00000115462
Gene: ENSMUSG00000028013

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 15 132 1.7e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196807
Meta Mutation Damage Score 0.0556 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.1%
  • 10x: 82.9%
  • 20x: 75.6%
Validation Efficiency 93% (78/84)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A T 17: 35,896,417 probably benign Het
Acad9 T C 3: 36,073,540 I97T probably damaging Het
Adam32 T A 8: 24,914,389 Y200F possibly damaging Het
Adcy4 T C 14: 55,769,827 N976S possibly damaging Het
Adgrb2 C G 4: 130,007,831 P416R probably damaging Het
Alpk2 A G 18: 65,349,911 L342S probably damaging Het
Ambra1 T A 2: 91,767,711 H72Q possibly damaging Het
Ankrd10 T C 8: 11,612,560 H391R probably benign Het
Arfgef3 A G 10: 18,589,642 V2151A probably damaging Het
Atm T C 9: 53,518,569 D389G probably benign Het
Atp10b A T 11: 43,189,604 S236C probably benign Het
B3gat1 C T 9: 26,756,941 R276C probably damaging Het
Bcl9l C T 9: 44,505,617 P251S probably benign Het
Cdhr5 C A 7: 141,269,868 G331W probably damaging Het
Cmklr1 T C 5: 113,614,470 T157A probably benign Het
Cndp1 T A 18: 84,628,824 E246D probably damaging Het
Cntn4 A G 6: 106,618,424 probably benign Het
Crebbp A G 16: 4,091,928 L1078P probably damaging Het
Cyp20a1 G T 1: 60,387,254 E452* probably null Het
Emb T C 13: 117,267,498 V262A probably damaging Het
Ephb1 C T 9: 102,041,140 R390H probably damaging Het
Faf1 T C 4: 109,935,499 L556S probably damaging Het
Fat2 T C 11: 55,298,605 T1196A probably damaging Het
Fbf1 A T 11: 116,148,119 probably null Het
Gid8 T A 2: 180,714,735 I55N possibly damaging Het
Hexa T C 9: 59,558,100 Y213H probably damaging Het
Igf2bp1 T C 11: 95,973,163 K234E probably damaging Het
Ighv1-58 C T 12: 115,312,299 G73E probably benign Het
Kalrn A T 16: 33,975,619 I1262K possibly damaging Het
Lrp1 C T 10: 127,552,738 V3281I probably benign Het
Lrp2 T C 2: 69,475,412 D2935G probably damaging Het
Lypd6 T A 2: 50,190,780 V160E probably benign Het
Muc19 C T 15: 91,892,907 noncoding transcript Het
Nrxn3 A G 12: 89,260,201 D202G probably damaging Het
Nxn A T 11: 76,278,594 probably benign Het
Olfr1461 T A 19: 13,165,662 I216K probably benign Het
Palld C A 8: 61,525,086 G890V probably damaging Het
Pcx C A 19: 4,601,747 probably benign Het
Pik3c2g T C 6: 139,662,443 S416P unknown Het
Ppp1r18 A G 17: 35,867,996 I254M probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rd3 A G 1: 191,985,300 M244V probably benign Het
Rfx5 T A 3: 94,958,368 V326E probably damaging Het
Rgs3 G C 4: 62,625,906 R305P probably damaging Het
Rpp40 A G 13: 35,898,987 Y173H probably benign Het
Ryr3 T C 2: 112,901,031 N645D probably damaging Het
Sema3e T C 5: 14,252,432 V657A possibly damaging Het
Serpina3n T A 12: 104,413,518 V390E probably damaging Het
Shank1 A G 7: 44,313,285 Y141C unknown Het
Smg1 A T 7: 118,145,467 M3154K probably benign Het
Tdrd12 A G 7: 35,475,993 L996P probably damaging Het
Tfrc G T 16: 32,623,426 V490F probably damaging Het
Tie1 T C 4: 118,486,587 S53G probably benign Het
Topaz1 T C 9: 122,790,123 Y1262H possibly damaging Het
Ttc3 A T 16: 94,390,265 H222L probably benign Het
Ubxn8 T C 8: 33,635,365 probably benign Het
Unk A G 11: 116,050,169 Y252C probably damaging Het
Vwc2l A G 1: 70,729,131 Y71C probably damaging Het
Zfp386 T A 12: 116,059,214 L184* probably null Het
Other mutations in Ppa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Ppa2 APN 3 133377862 missense probably damaging 1.00
IGL02662:Ppa2 APN 3 133367883 missense probably damaging 0.99
IGL02726:Ppa2 APN 3 133370461 missense possibly damaging 0.46
R0098:Ppa2 UTSW 3 133370473 splice site probably benign
R1868:Ppa2 UTSW 3 133348097 missense probably damaging 1.00
R2082:Ppa2 UTSW 3 133370417 missense probably benign 0.00
R2096:Ppa2 UTSW 3 133326684 missense probably damaging 1.00
R2851:Ppa2 UTSW 3 133321003 splice site probably null
R3611:Ppa2 UTSW 3 133348106 missense probably benign 0.07
R4299:Ppa2 UTSW 3 133367842 missense probably damaging 1.00
R4660:Ppa2 UTSW 3 133326684 missense probably damaging 1.00
R4735:Ppa2 UTSW 3 133370425 missense probably benign 0.29
R5023:Ppa2 UTSW 3 133370434 missense probably benign 0.08
R5881:Ppa2 UTSW 3 133330439 missense probably damaging 0.96
R6284:Ppa2 UTSW 3 133370417 missense probably benign 0.00
R7194:Ppa2 UTSW 3 133348192 critical splice donor site probably null
R7203:Ppa2 UTSW 3 133330438 missense possibly damaging 0.93
Posted On2013-01-20