Incidental Mutation 'R0039:Prune1'
Institutional Source Beutler Lab
Gene Symbol Prune1
Ensembl Gene ENSMUSG00000015711
Gene Nameprune exopolyphosphatase
Synonyms9230112O05Rik, Prune-M1, Prune
MMRRC Submission 038333-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0039 (G1)
Quality Score
Status Validated
Chromosomal Location95253674-95282076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95262367 bp
Amino Acid Change Threonine to Serine at position 175 (T175S)
Ref Sequence ENSEMBL: ENSMUSP00000015855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015855]
Predicted Effect probably damaging
Transcript: ENSMUST00000015855
AA Change: T175S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: T175S

Pfam:DHH 19 181 2.5e-10 PFAM
DHHA2 215 359 1.88e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148959
Meta Mutation Damage Score 0.4544 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a flattened pancake appearance at E9. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,518,735 Q830* probably null Het
Atic A T 1: 71,577,850 E523V possibly damaging Het
Cass4 T A 2: 172,426,980 F329L probably damaging Het
Cdk17 A T 10: 93,226,778 probably benign Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep170 A C 1: 176,782,495 probably null Het
Dsg3 A G 18: 20,521,484 K82E probably benign Het
Dtd1 C T 2: 144,746,976 R185W probably damaging Het
Glt6d1 C A 2: 25,794,727 probably null Het
Hectd1 T G 12: 51,753,825 E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,619,446 K257* probably null Het
Ighv8-5 T A 12: 115,067,587 T111S possibly damaging Het
Lmtk2 G T 5: 144,166,387 L321F probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mfn1 T C 3: 32,538,267 probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mroh8 T C 2: 157,229,929 H552R possibly damaging Het
Myh2 T A 11: 67,178,277 L304Q probably damaging Het
Rdh10 C T 1: 16,129,284 T238I probably damaging Het
Rlf T A 4: 121,146,842 H1647L possibly damaging Het
Rreb1 C T 13: 37,899,637 T92M probably damaging Het
Scn9a A T 2: 66,562,444 M268K probably damaging Het
Sec16a A G 2: 26,423,914 V1893A probably benign Het
Snd1 T A 6: 28,745,210 L518Q probably damaging Het
Stat1 T A 1: 52,140,660 V343D probably damaging Het
Topors A G 4: 40,262,772 S171P probably damaging Het
Tubd1 C T 11: 86,549,395 Q82* probably null Het
Unc13c A G 9: 73,669,565 probably benign Het
Wdr43 G T 17: 71,653,492 G590* probably null Het
Other mutations in Prune1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Prune1 APN 3 95265557 missense probably damaging 1.00
IGL02186:Prune1 APN 3 95259237 splice site probably benign
IGL02659:Prune1 APN 3 95255400 missense possibly damaging 0.95
R0194:Prune1 UTSW 3 95262360 missense probably damaging 0.98
R1791:Prune1 UTSW 3 95268242 missense possibly damaging 0.91
R2072:Prune1 UTSW 3 95255408 missense probably benign
R2513:Prune1 UTSW 3 95258119 missense probably benign 0.04
R3814:Prune1 UTSW 3 95265439 missense probably damaging 1.00
R4050:Prune1 UTSW 3 95262231 missense possibly damaging 0.51
R4455:Prune1 UTSW 3 95281896 unclassified probably null
R4589:Prune1 UTSW 3 95262331 missense possibly damaging 0.50
R5664:Prune1 UTSW 3 95258178 missense probably damaging 1.00
R6122:Prune1 UTSW 3 95262243 missense probably benign 0.00
R6773:Prune1 UTSW 3 95263771 missense probably damaging 1.00
R7285:Prune1 UTSW 3 95255046 missense probably damaging 1.00
R7459:Prune1 UTSW 3 95281710 unclassified probably benign
R7635:Prune1 UTSW 3 95255285 missense probably damaging 1.00
Z1176:Prune1 UTSW 3 95255000 missense probably damaging 0.98
Posted On2012-12-21