Incidental Mutation 'R0764:Purb'
ID 72561
Institutional Source Beutler Lab
Gene Symbol Purb
Ensembl Gene ENSMUSG00000094483
Gene Name purine rich element binding protein B
Synonyms Cager-2, 2310015K15Rik, D11Bwg0414e
MMRRC Submission 038944-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # R0764 (G1)
Quality Score 170
Status Validated
Chromosome 11
Chromosomal Location 6417599-6425917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6425661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 76 (V76M)
Ref Sequence ENSEMBL: ENSMUSP00000136957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179343]
AlphaFold O35295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175144
Predicted Effect probably damaging
Transcript: ENSMUST00000179343
AA Change: V76M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136957
Gene: ENSMUSG00000094483
AA Change: V76M

DomainStartEndE-ValueType
low complexity region 11 39 N/A INTRINSIC
PUR 45 107 1.11e-29 SMART
PUR 130 206 1.23e-27 SMART
PUR 231 292 6.56e-23 SMART
low complexity region 304 323 N/A INTRINSIC
Meta Mutation Damage Score 0.3301 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.1%
Validation Efficiency 98% (48/49)
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]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,950,772 (GRCm39) Y898N probably damaging Het
Acp4 T C 7: 43,901,738 (GRCm39) probably benign Het
Adipor2 T C 6: 119,334,215 (GRCm39) I332V probably benign Het
Ago3 T A 4: 126,248,885 (GRCm39) K555N possibly damaging Het
Angpt4 A G 2: 151,753,204 (GRCm39) probably benign Het
Ano5 G T 7: 51,187,590 (GRCm39) probably benign Het
Ap3b1 C T 13: 94,616,387 (GRCm39) probably benign Het
Cbl A T 9: 44,075,449 (GRCm39) C399S probably damaging Het
Cdkl2 C A 5: 92,168,136 (GRCm39) V353L probably benign Het
Celsr3 A G 9: 108,705,017 (GRCm39) Y500C probably damaging Het
Cep162 A G 9: 87,083,798 (GRCm39) S1242P probably damaging Het
Crhr1 C T 11: 104,050,152 (GRCm39) R66W probably damaging Het
Ddx49 T C 8: 70,749,907 (GRCm39) E170G probably benign Het
Fam193a T C 5: 34,600,685 (GRCm39) F305L probably damaging Het
Fam76a C T 4: 132,638,010 (GRCm39) G198R probably damaging Het
Gm43302 T A 5: 105,428,355 (GRCm39) I130F probably benign Het
Hectd4 T A 5: 121,424,832 (GRCm39) I745N possibly damaging Het
Ina T A 19: 47,012,087 (GRCm39) *502K probably null Het
Kdm1b A T 13: 47,222,079 (GRCm39) D506V possibly damaging Het
Lrrk2 A G 15: 91,659,249 (GRCm39) probably null Het
Ly6g2 T A 15: 75,092,572 (GRCm39) F97Y probably benign Het
Naip5 A T 13: 100,353,613 (GRCm39) D1215E probably benign Het
Neb A G 2: 52,106,879 (GRCm39) probably benign Het
Nectin2 T A 7: 19,483,096 (GRCm39) probably null Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2aj5 G T 16: 19,425,182 (GRCm39) P79T probably damaging Het
Or4a71 A G 2: 89,358,340 (GRCm39) V138A probably benign Het
Osbp A G 19: 11,961,520 (GRCm39) probably benign Het
Otog A G 7: 45,949,918 (GRCm39) D2460G probably benign Het
Pcgf1 T C 6: 83,056,150 (GRCm39) C2R probably damaging Het
Per2 C T 1: 91,357,142 (GRCm39) V674M probably damaging Het
Pias3 C T 3: 96,608,611 (GRCm39) P218S probably damaging Het
Plod3 C T 5: 137,018,437 (GRCm39) probably benign Het
Ranbp1 C A 16: 18,058,022 (GRCm39) E181* probably null Het
Rit2 T C 18: 31,286,754 (GRCm39) probably benign Het
Rnf103 C A 6: 71,486,566 (GRCm39) T399K probably damaging Het
Slc22a13 T C 9: 119,037,746 (GRCm39) probably null Het
Slc35f4 T A 14: 49,543,796 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tnfrsf17 C T 16: 11,133,063 (GRCm39) T47M possibly damaging Het
Tram1 A G 1: 13,649,933 (GRCm39) I97T probably damaging Het
Ttc38 T C 15: 85,730,604 (GRCm39) probably benign Het
Zfp113 T A 5: 138,143,506 (GRCm39) Q248L probably damaging Het
Other mutations in Purb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1939:Purb UTSW 11 6,424,943 (GRCm39) missense unknown
R4666:Purb UTSW 11 6,425,615 (GRCm39) missense probably damaging 1.00
R5512:Purb UTSW 11 6,425,702 (GRCm39) missense probably damaging 0.99
R6028:Purb UTSW 11 6,425,150 (GRCm39) missense probably damaging 1.00
R9478:Purb UTSW 11 6,425,424 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTACTTGCGGTTCTCGCGCAC -3'
(R):5'- CCAGCGGACAGAAACATAGGCTCG -3'

Sequencing Primer
(F):5'- TTCTCGCGCACCAGGAAC -3'
(R):5'- gagaagatggcggacgg -3'
Posted On 2013-09-30