Incidental Mutation 'R6284:Ppa2'
ID 508094
Institutional Source Beutler Lab
Gene Symbol Ppa2
Ensembl Gene ENSMUSG00000028013
Gene Name pyrophosphatase (inorganic) 2
Synonyms Sid6306, 1110013G13Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 133015871-133083996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133076178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 269 (R269H)
Ref Sequence ENSEMBL: ENSMUSP00000113369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029644] [ENSMUST00000106315] [ENSMUST00000122334]
AlphaFold Q91VM9
Predicted Effect probably benign
Transcript: ENSMUST00000029644
AA Change: R269H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Pyrophosphatase 89 271 8.4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106315
AA Change: R94H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101922
Gene: ENSMUSG00000028013
AA Change: R94H

DomainStartEndE-ValueType
Pfam:Pyrophosphatase 1 97 7.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122334
AA Change: R269H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013
AA Change: R269H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably damaging 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
R2096:Ppa2 UTSW 3 133,032,445 (GRCm39) missense probably damaging 1.00
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
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'- TGACTAAGGCAGCTTTTCCAC -3'
(R):5'- TGAACCACTTTGGATTCCTAGC -3'

Sequencing Primer
(F):5'- AAGGCAGCTTTTCCACTCGTTTG -3'
(R):5'- CAGCTACCACTAAAGAGATGTTCTG -3'
Posted On 2018-03-15