Incidental Mutation 'R6773:Prune1'
ID 532232
Institutional Source Beutler Lab
Gene Symbol Prune1
Ensembl Gene ENSMUSG00000015711
Gene Name prune exopolyphosphatase
Synonyms Prune, 9230112O05Rik, Prune-M1
MMRRC Submission 044889-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6773 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95160985-95189387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95171082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 114 (D114G)
Ref Sequence ENSEMBL: ENSMUSP00000015855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015855]
AlphaFold Q8BIW1
Predicted Effect probably damaging
Transcript: ENSMUST00000015855
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: D114G

DomainStartEndE-ValueType
Pfam:DHH 19 181 2.5e-10 PFAM
DHHA2 215 359 1.88e-33 SMART
Meta Mutation Damage Score 0.4411 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,336,556 (GRCm39) I49F probably damaging Het
Aqp6 A G 15: 99,500,558 (GRCm39) D161G probably damaging Het
Aqr A T 2: 113,979,477 (GRCm39) N319K possibly damaging Het
Asns C A 6: 7,676,284 (GRCm39) R424L probably benign Het
Atp4a T C 7: 30,414,802 (GRCm39) V197A probably damaging Het
Ccdc70 A G 8: 22,463,321 (GRCm39) E37G probably damaging Het
Ccdc88b A T 19: 6,826,409 (GRCm39) V1102E possibly damaging Het
Cd82 G A 2: 93,252,221 (GRCm39) A130V probably benign Het
Cfap46 T C 7: 139,222,477 (GRCm39) probably benign Het
Cnot6l A C 5: 96,242,158 (GRCm39) C188W probably damaging Het
Cxcr6 A T 9: 123,639,355 (GRCm39) T119S possibly damaging Het
Dok7 G A 5: 35,234,528 (GRCm39) R193H probably damaging Het
Dpy19l1 A T 9: 24,352,068 (GRCm39) S386T probably damaging Het
Frem3 A C 8: 81,338,444 (GRCm39) T246P probably damaging Het
Gm29666 A T 15: 84,798,360 (GRCm39) I67K unknown Het
Gpr153 T A 4: 152,363,757 (GRCm39) V59E probably damaging Het
Inpp4b G A 8: 82,583,249 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,482 (GRCm39) I247V possibly damaging Het
Klri1 C T 6: 129,680,510 (GRCm39) V91M possibly damaging Het
M1ap T A 6: 82,945,061 (GRCm39) D118E probably damaging Het
Map4 T C 9: 109,863,993 (GRCm39) V406A probably benign Het
Nedd4l T C 18: 65,300,622 (GRCm39) V369A probably benign Het
Or5ac24 A T 16: 59,165,579 (GRCm39) L162I probably damaging Het
Otud4 A G 8: 80,370,435 (GRCm39) Y71C possibly damaging Het
Plcl1 A G 1: 55,790,461 (GRCm39) N1044D probably benign Het
Ppp4r3b T A 11: 29,155,639 (GRCm39) M114K probably benign Het
Rad54l2 A T 9: 106,570,516 (GRCm39) V1268D probably benign Het
Rbbp6 A G 7: 122,598,578 (GRCm39) probably benign Het
Rimbp3 A T 16: 17,026,879 (GRCm39) E101V probably damaging Het
Rit1 C T 3: 88,633,676 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Shisa9 A G 16: 11,802,892 (GRCm39) T150A probably damaging Het
Smpdl3a T C 10: 57,678,533 (GRCm39) V112A probably damaging Het
Strada T A 11: 106,055,733 (GRCm39) I305F probably damaging Het
Svep1 C T 4: 58,049,146 (GRCm39) E3454K possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tmem259 T C 10: 79,813,422 (GRCm39) D519G possibly damaging Het
Tns1 T C 1: 73,958,866 (GRCm39) Q445R probably damaging Het
Topbp1 A G 9: 103,220,891 (GRCm39) D20G possibly damaging Het
Trbv5 G T 6: 41,039,551 (GRCm39) W52L probably damaging Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Tulp1 T C 17: 28,581,876 (GRCm39) K193E probably damaging Het
Unc80 T C 1: 66,690,702 (GRCm39) V2459A probably benign Het
Vps50 T C 6: 3,592,560 (GRCm39) V731A probably benign Het
Other mutations in Prune1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Prune1 APN 3 95,172,868 (GRCm39) missense probably damaging 1.00
IGL02186:Prune1 APN 3 95,166,548 (GRCm39) splice site probably benign
IGL02659:Prune1 APN 3 95,162,711 (GRCm39) missense possibly damaging 0.95
R0039:Prune1 UTSW 3 95,169,678 (GRCm39) missense probably damaging 1.00
R0194:Prune1 UTSW 3 95,169,671 (GRCm39) missense probably damaging 0.98
R1791:Prune1 UTSW 3 95,175,553 (GRCm39) missense possibly damaging 0.91
R2072:Prune1 UTSW 3 95,162,719 (GRCm39) missense probably benign
R2513:Prune1 UTSW 3 95,165,430 (GRCm39) missense probably benign 0.04
R3814:Prune1 UTSW 3 95,172,750 (GRCm39) missense probably damaging 1.00
R4050:Prune1 UTSW 3 95,169,542 (GRCm39) missense possibly damaging 0.51
R4455:Prune1 UTSW 3 95,189,207 (GRCm39) splice site probably null
R4589:Prune1 UTSW 3 95,169,642 (GRCm39) missense possibly damaging 0.50
R5664:Prune1 UTSW 3 95,165,489 (GRCm39) missense probably damaging 1.00
R6122:Prune1 UTSW 3 95,169,554 (GRCm39) missense probably benign 0.00
R7285:Prune1 UTSW 3 95,162,357 (GRCm39) missense probably damaging 1.00
R7459:Prune1 UTSW 3 95,189,021 (GRCm39) unclassified probably benign
R7635:Prune1 UTSW 3 95,162,596 (GRCm39) missense probably damaging 1.00
R8367:Prune1 UTSW 3 95,172,837 (GRCm39) missense probably benign 0.01
R9000:Prune1 UTSW 3 95,162,635 (GRCm39) missense probably benign 0.00
Z1176:Prune1 UTSW 3 95,162,311 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAAGGGCAAAGGTCACAACC -3'
(R):5'- AGCTGCTTCTGATTCCACG -3'

Sequencing Primer
(F):5'- GATTCCTTACCATGCAGTAGGGC -3'
(R):5'- CTGATTCCACGTCAGAGAGTG -3'
Posted On 2018-08-29