Incidental Mutation 'R5881:Ppa2'
ID 454405
Institutional Source Beutler Lab
Gene Symbol Ppa2
Ensembl Gene ENSMUSG00000028013
Gene Name pyrophosphatase (inorganic) 2
Synonyms Sid6306, 1110013G13Rik
MMRRC Submission 044085-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5881 (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 T at 133036200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 118 (N118I)
Ref Sequence ENSEMBL: ENSMUSP00000029644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029644] [ENSMUST00000122334]
AlphaFold Q91VM9
Predicted Effect probably damaging
Transcript: ENSMUST00000029644
AA Change: N118I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013
AA Change: N118I

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Pyrophosphatase 89 271 8.4e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122334
AA Change: N118I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013
AA Change: N118I

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: 99.9%
  • 3x: 99.3%
  • 10x: 94.5%
  • 20x: 78.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A C 11: 95,725,213 (GRCm39) L159W probably damaging Het
Abi3 A T 11: 95,725,214 (GRCm39) L159M probably damaging Het
Adam11 A C 11: 102,664,636 (GRCm39) I406L probably benign Het
Ager G T 17: 34,819,051 (GRCm39) V300L probably damaging Het
Ank3 C T 10: 69,822,660 (GRCm39) S1726L probably benign Het
Boc A G 16: 44,311,014 (GRCm39) I740T probably damaging Het
C8a T A 4: 104,711,129 (GRCm39) D178V probably damaging Het
Ces3a G A 8: 105,777,198 (GRCm39) V174M probably damaging Het
Cisd1 A T 10: 71,172,244 (GRCm39) W13R probably damaging Het
Commd8 A T 5: 72,320,107 (GRCm39) D111E probably benign Het
Ddx60 A T 8: 62,490,104 (GRCm39) D1691V probably damaging Het
Desi2 A G 1: 178,065,479 (GRCm39) Y15C probably damaging Het
Dnmt1 A G 9: 20,864,013 (GRCm39) V24A probably damaging Het
Dock10 G A 1: 80,538,640 (GRCm39) T968M probably benign Het
Dsel A T 1: 111,787,168 (GRCm39) F1122L probably damaging Het
Eml3 T C 19: 8,910,807 (GRCm39) F220L probably damaging Het
Entpd2 A C 2: 25,290,824 (GRCm39) N443H probably damaging Het
Epgn A G 5: 91,176,222 (GRCm39) N36S probably benign Het
Fsip2 G T 2: 82,814,785 (GRCm39) S3506I possibly damaging Het
Gprin3 T C 6: 59,331,771 (GRCm39) S179G probably benign Het
Grifin G T 5: 140,549,342 (GRCm39) H125N possibly damaging Het
H1f9 A G 11: 94,858,989 (GRCm39) T95A possibly damaging Het
Hmcn1 A G 1: 150,506,078 (GRCm39) V3816A probably damaging Het
Hspa14 A G 2: 3,499,207 (GRCm39) F196L probably benign Het
Ice1 T C 13: 70,754,620 (GRCm39) K489E probably benign Het
Jmjd6 C T 11: 116,730,682 (GRCm39) W117* probably null Het
Lrit2 G T 14: 36,794,192 (GRCm39) A419S probably benign Het
Mc3r T C 2: 172,091,092 (GRCm39) S105P probably benign Het
Mccc1 A G 3: 36,018,531 (GRCm39) V601A probably benign Het
Myo1f A G 17: 33,795,627 (GRCm39) D91G probably damaging Het
Myo1f G A 17: 33,799,259 (GRCm39) E255K possibly damaging Het
Necap1 T A 6: 122,858,503 (GRCm39) D115E probably benign Het
Or4b12 A T 2: 90,096,786 (GRCm39) probably null Het
Or4k15b G A 14: 50,272,444 (GRCm39) R139C probably benign Het
Or51b6 T A 7: 103,555,883 (GRCm39) M79K probably damaging Het
Papln A G 12: 83,818,652 (GRCm39) E78G probably null Het
Phldb3 T C 7: 24,326,147 (GRCm39) probably null Het
Pkd1l2 A G 8: 117,724,321 (GRCm39) I2394T probably damaging Het
Ppef2 A T 5: 92,398,388 (GRCm39) C43* probably null Het
Pramel51 A G 12: 88,143,111 (GRCm39) L169P probably damaging Het
Rab27a G A 9: 72,992,321 (GRCm39) probably null Het
Rabgap1l A T 1: 160,169,683 (GRCm39) F47I probably damaging Het
Rala A G 13: 18,067,746 (GRCm39) I95T probably damaging Het
Rgl2 A G 17: 34,151,691 (GRCm39) D245G probably benign Het
Rnf34 A T 5: 123,002,146 (GRCm39) T35S probably damaging Het
Ros1 C T 10: 52,057,894 (GRCm39) R51Q probably benign Het
Samd9l T C 6: 3,372,716 (GRCm39) D1515G possibly damaging Het
Scn7a T C 2: 66,505,870 (GRCm39) E1673G probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Tdrd5 A T 1: 156,122,070 (GRCm39) S280T probably damaging Het
Tent2 A T 13: 93,312,246 (GRCm39) C180* probably null Het
Tie1 T C 4: 118,332,800 (GRCm39) I911V possibly damaging Het
Vipas39 G A 12: 87,298,581 (GRCm39) R194* probably null Het
Ybx3 A C 6: 131,345,451 (GRCm39) N307K possibly damaging Het
Ylpm1 A T 12: 85,088,899 (GRCm39) H1216L 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
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'- TTCCAGACGGATTTTCTTACATGG -3'
(R):5'- GCTAGGAGCGAAGTTCAATTC -3'

Sequencing Primer
(F):5'- AGACGGATTTTCTTACATGGTACTTG -3'
(R):5'- CGAAGTTCAATTCAGGGAGTTCC -3'
Posted On 2017-02-10