Incidental Mutation 'R2096:Ppa2'
ID 232091
Institutional Source Beutler Lab
Gene Symbol Ppa2
Ensembl Gene ENSMUSG00000028013
Gene Name pyrophosphatase (inorganic) 2
Synonyms Sid6306, 1110013G13Rik
MMRRC Submission 040100-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2096 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 133015871-133083996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133032445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 97 (T97A)
Ref Sequence ENSEMBL: ENSMUSP00000113369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029644] [ENSMUST00000122334]
AlphaFold Q91VM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000029644
AA Change: T97A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013
AA Change: T97A

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Pyrophosphatase 89 271 8.4e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122334
AA Change: T97A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013
AA Change: T97A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,709,195 (GRCm39) S120P probably benign Het
Actr3b T A 5: 26,036,743 (GRCm39) Y185* probably null Het
Atg101 T A 15: 101,188,382 (GRCm39) H162Q possibly damaging Het
Btf3 T A 13: 98,449,659 (GRCm39) Q109L possibly damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Capn7 T G 14: 31,071,844 (GRCm39) probably null Het
Cd209f A G 8: 4,155,537 (GRCm39) V17A probably benign Het
Cenpf A G 1: 189,385,656 (GRCm39) V2208A possibly damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Comp T C 8: 70,828,713 (GRCm39) C182R probably damaging Het
Ctsl A G 13: 64,516,840 (GRCm39) probably null Het
Cyp3a44 G T 5: 145,725,215 (GRCm39) Q329K probably damaging Het
Dcpp1 A T 17: 24,099,971 (GRCm39) probably null Het
Dhx38 A G 8: 110,280,891 (GRCm39) V831A probably damaging Het
Dkk2 T C 3: 131,791,858 (GRCm39) M22T probably benign Het
Dnah2 C T 11: 69,346,742 (GRCm39) E2615K probably damaging Het
Dpy19l3 A G 7: 35,426,713 (GRCm39) probably null Het
Gm12888 T G 4: 121,176,655 (GRCm39) I49L probably benign Het
Insyn2b C A 11: 34,352,936 (GRCm39) S326Y probably benign Het
Kif15 T A 9: 122,815,252 (GRCm39) M194K probably damaging Het
Mael G T 1: 166,053,244 (GRCm39) Q254K probably benign Het
Nek9 T C 12: 85,361,322 (GRCm39) D461G probably benign Het
Nlrp12 T C 7: 3,281,825 (GRCm39) N819S probably benign Het
Ntng1 T A 3: 109,739,871 (GRCm39) N390Y probably damaging Het
Or5g25 A G 2: 85,478,434 (GRCm39) I77T probably benign Het
P2ry14 C T 3: 59,022,738 (GRCm39) V250I probably damaging Het
Pcnx2 A T 8: 126,485,987 (GRCm39) D1870E probably benign Het
Phf2 T A 13: 48,985,589 (GRCm39) K64* probably null Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Psd G A 19: 46,313,088 (GRCm39) probably null Het
Psg23 T A 7: 18,348,668 (GRCm39) E46D probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rab11b A G 17: 33,967,976 (GRCm39) Y74H probably damaging Het
Rfc3 A T 5: 151,568,383 (GRCm39) S194R probably benign Het
Sema4d A T 13: 51,864,037 (GRCm39) I414N probably damaging Het
Serpinb1a A T 13: 33,031,437 (GRCm39) D120E probably damaging Het
Snai2 T A 16: 14,524,861 (GRCm39) H122Q possibly damaging Het
Spats2l T C 1: 57,985,458 (GRCm39) S504P probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Sspo G T 6: 48,438,608 (GRCm39) V1559L probably benign Het
Tas2r118 T G 6: 23,969,912 (GRCm39) I50L possibly damaging Het
Tdrd3 C T 14: 87,743,788 (GRCm39) Q573* probably null Het
Thoc2l T C 5: 104,667,835 (GRCm39) S786P possibly damaging Het
Tlnrd1 G A 7: 83,532,062 (GRCm39) T123I probably benign Het
Tmem214 T A 5: 31,033,714 (GRCm39) L555H probably damaging Het
Tmprss12 T A 15: 100,183,117 (GRCm39) M153K probably benign Het
Tmprss9 G A 10: 80,725,268 (GRCm39) G410S probably damaging Het
Trpm6 T A 19: 18,803,116 (GRCm39) M853K probably damaging Het
Vmn1r35 A G 6: 66,655,929 (GRCm39) I247T possibly damaging Het
Zcchc7 C A 4: 44,931,059 (GRCm39) P404T probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Ppa2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2851:Ppa2 UTSW 3 133,026,764 (GRCm39) splice site probably null
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'- TATGTGTGGGATGGAAACTTACAC -3'
(R):5'- TGCAGAGGGATAGTCAGGTC -3'

Sequencing Primer
(F):5'- GTGTGGGATGGAAACTTACACTATTC -3'
(R):5'- GGATAGTCAGGTCAAAACATCCTG -3'
Posted On 2014-09-18