Incidental Mutation 'W0251:Pura'
ID 166614
Institutional Source Beutler Lab
Gene Symbol Pura
Ensembl Gene ENSMUSG00000043991
Gene Name purine rich element binding protein A
Synonyms ssCRE-BP, Pur-alpha, Pur alpha, CAGER-1
Accession Numbers
Essential gene? Not available question?
Stock # W0251 (G3R) of strain daniel_gray
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 36414150-36425588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36420843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000059404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051301]
AlphaFold P42669
Predicted Effect probably benign
Transcript: ENSMUST00000051301
AA Change: V210A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000059404
Gene: ENSMUSG00000043991
AA Change: V210A

DomainStartEndE-ValueType
low complexity region 6 56 N/A INTRINSIC
PUR 59 121 3.08e-28 SMART
PUR 141 209 6.26e-29 SMART
PUR 217 278 3.6e-29 SMART
low complexity region 292 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209540
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are overtly normal within the first few weeks of life but later manifest severe neurological defects and die shortly after weaning. Neuroanatomical abnormalities are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2a1b T A 9: 89,081,636 (GRCm39) M75K probably damaging Het
Btaf1 G A 19: 36,980,904 (GRCm39) R1575H probably damaging Het
Cfap46 T C 7: 139,183,862 (GRCm39) M2507V probably benign Het
Dcc T C 18: 71,959,154 (GRCm39) D206G probably damaging Het
Dnah6 T A 6: 73,155,501 (GRCm39) I705F possibly damaging Het
Entpd1 A T 19: 40,714,697 (GRCm39) I269F probably damaging Het
Gm4559 G C 7: 141,827,535 (GRCm39) A189G unknown Het
Ipo5 T A 14: 121,176,197 (GRCm39) M648K probably benign Het
Kdelr1 A G 7: 45,531,045 (GRCm39) Y96C probably damaging Het
Mmp17 C T 5: 129,672,591 (GRCm39) A181V probably benign Het
Muc20 T C 16: 32,614,223 (GRCm39) I385V possibly damaging Het
Or13c7 C T 4: 43,855,058 (GRCm39) L250F probably benign Het
Pik3r6 A G 11: 68,424,697 (GRCm39) Y434C probably benign Het
Spic C T 10: 88,515,766 (GRCm39) D19N probably damaging Het
Other mutations in Pura
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Pura APN 18 36,420,943 (GRCm39) missense probably benign 0.34
IGL02326:Pura APN 18 36,420,831 (GRCm39) missense probably damaging 1.00
R0900:Pura UTSW 18 36,420,720 (GRCm39) missense probably damaging 1.00
R2259:Pura UTSW 18 36,420,803 (GRCm39) missense possibly damaging 0.59
R6718:Pura UTSW 18 36,420,696 (GRCm39) missense probably damaging 1.00
R7494:Pura UTSW 18 36,420,942 (GRCm39) missense probably damaging 0.97
R9365:Pura UTSW 18 36,420,913 (GRCm39) missense possibly damaging 0.94
X0027:Pura UTSW 18 36,420,681 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GTTTCCTGAAGATCGCAGAGGTGG -3'
(R):5'- ACTTGCAGAAGGTGTGTCCGAAC -3'

Sequencing Primer
(F):5'- TTCCTGGTGCGCGAAAAC -3'
(R):5'- AACTTGGCCCACACCTTGTAG -3'
Posted On 2014-04-13