Incidental Mutation 'R2945:Purg'
ID 255844
Institutional Source Beutler Lab
Gene Symbol Purg
Ensembl Gene ENSMUSG00000049184
Gene Name purine-rich element binding protein G
Synonyms 4930486B15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R2945 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 33876353-33907495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33876671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 103 (I103N)
Ref Sequence ENSEMBL: ENSMUSP00000077205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033990] [ENSMUST00000033991] [ENSMUST00000070340] [ENSMUST00000078058]
AlphaFold Q8R4E6
Predicted Effect probably benign
Transcript: ENSMUST00000033990
SMART Domains Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583

DomainStartEndE-ValueType
35EXOc 47 226 1e-47 SMART
low complexity region 484 489 N/A INTRINSIC
DEXDc 509 704 2.3e-28 SMART
HELICc 743 824 3.7e-27 SMART
RQC 923 1028 3.1e-28 SMART
HRDC 1115 1194 1.5e-26 SMART
low complexity region 1205 1216 N/A INTRINSIC
Pfam:HTH_40 1222 1318 2.7e-9 PFAM
low complexity region 1342 1356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033991
SMART Domains Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583

DomainStartEndE-ValueType
35EXOc 47 226 1.1e-47 SMART
low complexity region 484 489 N/A INTRINSIC
DEXDc 509 704 2.4e-28 SMART
HELICc 743 824 3.7e-27 SMART
Pfam:RecQ_Zn_bind 835 905 2.2e-8 PFAM
RQC 923 1028 3.2e-28 SMART
HRDC 1115 1194 1.5e-26 SMART
low complexity region 1205 1216 N/A INTRINSIC
Pfam:HTH_40 1223 1317 4.3e-10 PFAM
low complexity region 1342 1356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070340
AA Change: I103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065002
Gene: ENSMUSG00000049184
AA Change: I103N

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
PUR 62 130 3.39e-16 SMART
PUR 173 247 1.25e-19 SMART
PUR 264 325 1.66e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078058
AA Change: I103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077205
Gene: ENSMUSG00000049184
AA Change: I103N

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
PUR 62 130 3.39e-16 SMART
PUR 173 247 1.25e-19 SMART
PUR 264 317 2.1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209293
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,426,927 (GRCm39) Q132* probably null Het
Bag4 C T 8: 26,261,280 (GRCm39) A154T probably benign Het
Caprin1 A G 2: 103,603,154 (GRCm39) S470P probably benign Het
Dsg3 A G 18: 20,672,992 (GRCm39) T888A probably benign Het
Fam111a C A 19: 12,565,230 (GRCm39) C326* probably null Het
Nbeal2 A G 9: 110,457,136 (GRCm39) V2310A possibly damaging Het
Unc5c A T 3: 141,495,735 (GRCm39) N461Y probably damaging Het
Utrn T C 10: 12,362,135 (GRCm39) T290A possibly damaging Het
Other mutations in Purg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Purg APN 8 33,876,631 (GRCm39) missense probably damaging 0.99
R1116:Purg UTSW 8 33,876,773 (GRCm39) missense probably benign 0.37
R1185:Purg UTSW 8 33,876,897 (GRCm39) nonsense probably null
R1185:Purg UTSW 8 33,876,897 (GRCm39) nonsense probably null
R1185:Purg UTSW 8 33,876,897 (GRCm39) nonsense probably null
R3859:Purg UTSW 8 33,876,587 (GRCm39) missense possibly damaging 0.75
R4016:Purg UTSW 8 33,877,019 (GRCm39) nonsense probably null
R4296:Purg UTSW 8 33,877,321 (GRCm39) missense probably damaging 1.00
R4854:Purg UTSW 8 33,877,342 (GRCm39) missense possibly damaging 0.93
R5928:Purg UTSW 8 33,876,980 (GRCm39) missense probably benign 0.00
R6337:Purg UTSW 8 33,876,451 (GRCm39) missense possibly damaging 0.53
R7580:Purg UTSW 8 33,906,661 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AGGCCCAGCATTCTCACTAC -3'
(R):5'- ACTGTGAGGATGCTCTTCTGAC -3'

Sequencing Primer
(F):5'- CCCCACTACTCCGCGTCAG -3'
(R):5'- GAGGATGCTCTTCTGACCCCAC -3'
Posted On 2014-12-29