Incidental Mutation 'R6718:Pura'
ID 529475
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
MMRRC Submission 044836-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6718 (G1)
Quality Score 133.008
Status Not validated
Chromosome 18
Chromosomal Location 36414150-36425588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36420696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 161 (N161S)
Ref Sequence ENSEMBL: ENSMUSP00000059404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051301]
AlphaFold P42669
Predicted Effect probably damaging
Transcript: ENSMUST00000051301
AA Change: N161S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059404
Gene: ENSMUSG00000043991
AA Change: N161S

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,554,346 (GRCm39) T452I probably damaging Het
Asb8 A G 15: 98,034,015 (GRCm39) I180T probably benign Het
Cdh18 A G 15: 23,226,835 (GRCm39) T45A probably benign Het
Col12a1 T A 9: 79,606,887 (GRCm39) Y512F probably damaging Het
Col6a1 A G 10: 76,560,884 (GRCm39) F38S probably damaging Het
Hoxc5 A G 15: 102,922,698 (GRCm39) probably null Het
Kmt2d TATGCTGCTG TATGCTGCTGATGCTGCTG 15: 98,747,467 (GRCm39) probably benign Het
Kmt2d C T 15: 98,748,420 (GRCm39) probably benign Het
Lrp2 G T 2: 69,314,124 (GRCm39) H2202Q probably benign Het
Maf C A 8: 116,433,539 (GRCm39) V22F unknown Het
Mrgpra3 C T 7: 47,239,444 (GRCm39) V161M probably benign Het
Or7g33 G T 9: 19,448,495 (GRCm39) H244N probably damaging Het
Otx1 T C 11: 21,946,412 (GRCm39) probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pex11a A G 7: 79,387,230 (GRCm39) F201L probably benign Het
Pigu A G 2: 155,143,206 (GRCm39) Y232H possibly damaging Het
Pms2 T C 5: 143,860,307 (GRCm39) I40T probably damaging Het
Ranbp10 A G 8: 106,501,260 (GRCm39) V330A possibly damaging Het
Slc30a9 T C 5: 67,490,443 (GRCm39) V218A probably damaging Het
Spindoc C T 19: 7,335,781 (GRCm39) V336I probably damaging Het
Tmprss9 A G 10: 80,726,198 (GRCm39) T483A probably benign 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
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
W0251:Pura UTSW 18 36,420,843 (GRCm39) missense probably benign 0.01
X0027:Pura UTSW 18 36,420,681 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTTCCTGAAGATCGCAGAGGTG -3'
(R):5'- TTGTCCACAGTCAAGGAGGTG -3'

Sequencing Primer
(F):5'- CTGGCGGCAACAAGAGC -3'
(R):5'- TAGTCGTCGATGAGCTTG -3'
Posted On 2018-08-01