Incidental Mutation 'R7494:Pura'
ID 581015
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 # R7494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 36414150-36425588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36420942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 243 (M243K)
Ref Sequence ENSEMBL: ENSMUSP00000059404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051301]
AlphaFold P42669
Predicted Effect probably damaging
Transcript: ENSMUST00000051301
AA Change: M243K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059404
Gene: ENSMUSG00000043991
AA Change: M243K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G A 11: 110,099,571 (GRCm39) T992I possibly damaging Het
Adamts10 T A 17: 33,768,352 (GRCm39) C841* probably null Het
AI661453 C T 17: 47,779,105 (GRCm39) P944S unknown Het
Als2 G A 1: 59,222,325 (GRCm39) probably null Het
Anapc2 A G 2: 25,166,376 (GRCm39) E381G possibly damaging Het
Ank3 T C 10: 69,824,756 (GRCm39) Y1142H Het
Apip A T 2: 102,922,896 (GRCm39) N238I probably benign Het
Cblc A T 7: 19,526,737 (GRCm39) V165D possibly damaging Het
Cep295nl T A 11: 118,224,758 (GRCm39) M29L probably benign Het
Clec12a A G 6: 129,330,362 (GRCm39) I47V possibly damaging Het
Dpp9 T C 17: 56,507,619 (GRCm39) Y350C probably damaging Het
Enpp2 C T 15: 54,773,554 (GRCm39) G56R probably damaging Het
Epsti1 G T 14: 78,166,194 (GRCm39) E82D probably benign Het
Eri2 C A 7: 119,385,304 (GRCm39) C399F probably damaging Het
Ern1 T C 11: 106,298,361 (GRCm39) T672A probably damaging Het
Fbxo21 T A 5: 118,138,388 (GRCm39) C445S possibly damaging Het
Folh1 G T 7: 86,368,907 (GRCm39) T740K probably damaging Het
Gapt A G 13: 110,490,262 (GRCm39) Y134H probably damaging Het
Gm19410 T C 8: 36,262,684 (GRCm39) S874P probably damaging Het
Gm2431 G A 7: 141,811,547 (GRCm39) P119L unknown Het
Gzmc G A 14: 56,469,785 (GRCm39) Q172* probably null Het
Hoxa1 C A 6: 52,134,571 (GRCm39) V211F probably damaging Het
Hyou1 G T 9: 44,300,706 (GRCm39) R925L probably benign Het
Ift70a1 A C 2: 75,810,242 (GRCm39) F614V probably damaging Het
Ilvbl A G 10: 78,414,857 (GRCm39) Y240C possibly damaging Het
Lama1 T A 17: 68,118,441 (GRCm39) F2551Y Het
Lrrtm3 A G 10: 63,924,958 (GRCm39) Y70H probably damaging Het
Naa38 T A 11: 69,287,126 (GRCm39) C69S probably damaging Het
Or12e7 T A 2: 87,287,912 (GRCm39) N134K probably damaging Het
Or2t46 T C 11: 58,472,038 (GRCm39) S123P probably damaging Het
Or8k25 A T 2: 86,243,592 (GRCm39) I268N probably benign Het
Panx3 A G 9: 37,572,608 (GRCm39) L314P probably damaging Het
Polr2f T C 15: 79,028,865 (GRCm39) probably null Het
Prkcd C A 14: 30,331,150 (GRCm39) R75L probably benign Het
Psap A C 10: 60,135,275 (GRCm39) L313F probably benign Het
Psen1 T A 12: 83,775,017 (GRCm39) C263S probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Septin1 T A 7: 126,814,122 (GRCm39) E338V probably damaging Het
Sgms1 A G 19: 32,107,091 (GRCm39) F255L probably benign Het
Slc4a2 A G 5: 24,637,862 (GRCm39) T353A possibly damaging Het
Smg6 T C 11: 74,820,449 (GRCm39) V240A probably benign Het
Sntg2 T G 12: 30,279,633 (GRCm39) D340A possibly damaging Het
Sun1 C T 5: 139,221,475 (GRCm39) P553S probably benign Het
Tas2r140 T C 6: 40,468,254 (GRCm39) V28A probably damaging Het
Tfcp2l1 T C 1: 118,592,686 (GRCm39) F323S probably damaging Het
Thoc2l T C 5: 104,666,284 (GRCm39) Y269H possibly damaging Het
Tpcn2 G A 7: 144,832,586 (GRCm39) T90I possibly damaging Het
Ttn A T 2: 76,720,321 (GRCm39) Y6968* probably null Het
Vmn2r44 A T 7: 8,386,122 (GRCm39) L39* probably null 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
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'- ATCTCAAGGAGAACCAGCGC -3'
(R):5'- AAACTGTCAGTTGGTGGAGG -3'

Sequencing Primer
(F):5'- ACGCAGGGCCAGACCATTG -3'
(R):5'- CAGCGGTGGTCTCCTCTTG -3'
Posted On 2019-10-17