Incidental Mutation 'IGL02326:Pura'
ID 288483
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02326
Quality Score
Status
Chromosome 18
Chromosomal Location 36414150-36425588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36420831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 206 (D206G)
Ref Sequence ENSEMBL: ENSMUSP00000059404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051301]
AlphaFold P42669
Predicted Effect probably damaging
Transcript: ENSMUST00000051301
AA Change: D206G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059404
Gene: ENSMUSG00000043991
AA Change: D206G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,465,051 (GRCm39) V29A unknown Het
Abcc8 C A 7: 45,772,281 (GRCm39) probably null Het
Ankar A T 1: 72,705,514 (GRCm39) I614N probably damaging Het
Ash1l G A 3: 88,873,364 (GRCm39) R49H probably benign Het
Atp8b1 T C 18: 64,671,654 (GRCm39) H1123R probably damaging Het
Casp12 T C 9: 5,358,317 (GRCm39) Y375H possibly damaging Het
Cbl A G 9: 44,062,770 (GRCm39) I861T possibly damaging Het
Cdh20 T C 1: 104,902,764 (GRCm39) L485P probably damaging Het
Cobl A T 11: 12,336,712 (GRCm39) N25K possibly damaging Het
Col14a1 T C 15: 55,282,193 (GRCm39) V818A unknown Het
Csmd3 G A 15: 47,619,359 (GRCm39) probably benign Het
Dpp6 A G 5: 27,869,755 (GRCm39) Y509C probably damaging Het
Fabp2 C T 3: 122,692,395 (GRCm39) R96C probably damaging Het
Fam53a T C 5: 33,757,938 (GRCm39) D395G probably damaging Het
Gabrb1 T A 5: 71,858,190 (GRCm39) I72K probably damaging Het
Hmcn2 G A 2: 31,340,964 (GRCm39) S4479N probably damaging Het
Hrnr C T 3: 93,231,052 (GRCm39) T430I unknown Het
Ighv1-53 T A 12: 115,122,235 (GRCm39) T47S probably benign Het
Ilk C A 7: 105,390,840 (GRCm39) P261Q probably damaging Het
Ints10 T G 8: 69,257,485 (GRCm39) D228E probably damaging Het
Kcnq5 A T 1: 21,472,816 (GRCm39) S782R probably benign Het
Map3k4 A G 17: 12,467,897 (GRCm39) S1046P probably damaging Het
Musk C T 4: 58,354,113 (GRCm39) P374S probably benign Het
Or52e18 T A 7: 104,609,853 (GRCm39) I29F probably benign Het
Or5b108 C A 19: 13,168,779 (GRCm39) Y249* probably null Het
Or5j1 G A 2: 86,879,355 (GRCm39) S75L possibly damaging Het
Or5w19 T A 2: 87,699,019 (GRCm39) I228N probably damaging Het
Pkd2 T C 5: 104,624,941 (GRCm39) Y246H probably benign Het
Plekha5 G T 6: 140,529,576 (GRCm39) G340* probably null Het
Plxna4 T A 6: 32,129,840 (GRCm39) M1828L probably damaging Het
Prex1 A G 2: 166,463,105 (GRCm39) I252T probably benign Het
Rad54b T A 4: 11,612,713 (GRCm39) F782I probably damaging Het
Rbp4 T C 19: 38,112,563 (GRCm39) D90G probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scn7a C A 2: 66,530,392 (GRCm39) R651L probably benign Het
Sh2d3c A T 2: 32,639,163 (GRCm39) probably null Het
Slc43a1 T G 2: 84,680,115 (GRCm39) L87R probably damaging Het
Sppl2c A G 11: 104,078,099 (GRCm39) T300A probably benign Het
Srgap2 T A 1: 131,284,645 (GRCm39) probably null Het
Tkt G A 14: 30,294,182 (GRCm39) V531M probably damaging Het
Twsg1 T C 17: 66,233,431 (GRCm39) D173G possibly damaging Het
Ugt2b37 G T 5: 87,388,861 (GRCm39) H451N probably benign Het
Ugt2b38 C T 5: 87,571,592 (GRCm39) D147N probably damaging Het
Vmn1r15 T C 6: 57,235,255 (GRCm39) I41T probably benign Het
Vwa5a A T 9: 38,649,252 (GRCm39) T667S probably benign Het
Xrn2 A G 2: 146,889,633 (GRCm39) E672G probably benign Het
Zfp235 T A 7: 23,834,727 (GRCm39) M1K probably null Het
Zmym1 T C 4: 126,941,553 (GRCm39) E847G probably damaging Het
Other mutations in Pura
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Pura APN 18 36,420,943 (GRCm39) missense probably benign 0.34
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
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
Posted On 2015-04-16