Incidental Mutation 'R4455:Prune1'
ID 329126
Institutional Source Beutler Lab
Gene Symbol Prune1
Ensembl Gene ENSMUSG00000015711
Gene Name prune exopolyphosphatase
Synonyms Prune, 9230112O05Rik, Prune-M1
MMRRC Submission 041715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4455 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95160985-95189387 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 95189207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015855] [ENSMUST00000039537] [ENSMUST00000107187] [ENSMUST00000143498]
AlphaFold Q8BIW1
Predicted Effect probably benign
Transcript: ENSMUST00000015855
SMART Domains Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711

DomainStartEndE-ValueType
Pfam:DHH 19 181 2.5e-10 PFAM
DHHA2 215 359 1.88e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000039537
SMART Domains Protein: ENSMUSP00000043910
Gene: ENSMUSG00000038712

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
low complexity region 67 86 N/A INTRINSIC
Pfam:DUF544 143 268 7.7e-51 PFAM
low complexity region 369 382 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
low complexity region 405 423 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107187
SMART Domains Protein: ENSMUSP00000102805
Gene: ENSMUSG00000038712

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
low complexity region 67 86 N/A INTRINSIC
Pfam:DUF544 143 266 7e-42 PFAM
low complexity region 369 382 N/A INTRINSIC
low complexity region 400 406 N/A INTRINSIC
low complexity region 414 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137743
Predicted Effect probably null
Transcript: ENSMUST00000143498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153928
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (61/61)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,395 (GRCm39) H166R possibly damaging Het
Aktip T C 8: 91,851,479 (GRCm39) E248G probably benign Het
Ankk1 A G 9: 49,329,366 (GRCm39) V336A probably benign Het
Aoc1 T A 6: 48,882,401 (GRCm39) D92E probably damaging Het
Aoc1l3 A T 6: 48,964,394 (GRCm39) N134I possibly damaging Het
Arfgef2 T C 2: 166,736,635 (GRCm39) I1769T probably benign Het
Arfgef3 A T 10: 18,483,423 (GRCm39) S1434T probably benign Het
Baz1a C A 12: 54,958,153 (GRCm39) V1033L probably benign Het
Bbs12 T C 3: 37,374,461 (GRCm39) V418A probably damaging Het
Cacnb4 A G 2: 52,355,665 (GRCm39) V214A probably damaging Het
Calhm6 A T 10: 34,002,531 (GRCm39) I184N probably damaging Het
Camk2d T C 3: 126,574,052 (GRCm39) V153A probably damaging Het
Ccdc18 C T 5: 108,309,395 (GRCm39) S330L possibly damaging Het
Cdh11 T C 8: 103,374,455 (GRCm39) D500G probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Clca4a G A 3: 144,663,020 (GRCm39) P610S probably damaging Het
Dctn1 T C 6: 83,172,031 (GRCm39) L807P probably damaging Het
Dop1b T C 16: 93,563,103 (GRCm39) L869P probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Grb10 T G 11: 11,917,665 (GRCm39) Q72P possibly damaging Het
H3f3a G T 1: 180,630,668 (GRCm39) R129S probably benign Het
Hfm1 T C 5: 107,034,374 (GRCm39) probably null Het
Kansl1 T C 11: 104,315,184 (GRCm39) T285A possibly damaging Het
Krtap16-1 A T 11: 99,876,559 (GRCm39) C282S probably benign Het
Magi1 A G 6: 93,762,438 (GRCm39) V89A probably damaging Het
Mllt1 A G 17: 57,226,965 (GRCm39) Y71H probably damaging Het
Ms4a14 T A 19: 11,280,990 (GRCm39) T523S possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc5b T C 7: 141,412,555 (GRCm39) S1834P unknown Het
Necap1 C T 6: 122,864,328 (GRCm39) S270F possibly damaging Het
Piwil2 T C 14: 70,628,014 (GRCm39) M752V probably benign Het
Ptpro A G 6: 137,370,657 (GRCm39) E586G probably damaging Het
Rela T A 19: 5,697,290 (GRCm39) I499K probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scara5 T A 14: 66,000,196 (GRCm39) D455E probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Sspo C T 6: 48,442,450 (GRCm39) R1982C probably damaging Het
Tsen34 G A 7: 3,698,097 (GRCm39) probably null Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utp18 G A 11: 93,776,273 (GRCm39) R71C probably benign Het
Xrn1 T A 9: 95,855,698 (GRCm39) probably benign Het
Yeats2 A G 16: 19,980,743 (GRCm39) K187R possibly damaging 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
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
R6773:Prune1 UTSW 3 95,171,082 (GRCm39) missense probably damaging 1.00
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'- GAGGTAACCCGGCAGAATGTAC -3'
(R):5'- TCCAGACAGGTTGGGCTAGATAG -3'

Sequencing Primer
(F):5'- TGTACCCCGCCCTAGACCTAG -3'
(R):5'- GGTTGGGCTAGATAGAAAGAATTTG -3'
Posted On 2015-07-21