Incidental Mutation 'R1185:Purg'
ID 200861
Institutional Source Beutler Lab
Gene Symbol Purg
Ensembl Gene ENSMUSG00000049184
Gene Name purine-rich element binding protein G
Synonyms 4930486B15Rik
MMRRC Submission 039257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R1185 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 33876353-33907495 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 33876897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 178 (Y178*)
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 null
Transcript: ENSMUST00000070340
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000065002
Gene: ENSMUSG00000049184
AA Change: Y178*

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 null
Transcript: ENSMUST00000078058
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000077205
Gene: ENSMUSG00000049184
AA Change: Y178*

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
Meta Mutation Damage Score 0.9710 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 96% (45/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ac165356.1 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Aimp2 A G 5: 143,841,509 (GRCm39) S110P possibly damaging Het
Akap9 A G 5: 3,998,783 (GRCm39) T51A probably benign Het
Arhgef25 A G 10: 127,019,650 (GRCm39) F430L possibly damaging Het
Brap T C 5: 121,813,342 (GRCm39) V235A probably damaging Het
Cd69 C T 6: 129,247,148 (GRCm39) G23D probably damaging Het
Cecr2 C T 6: 120,735,166 (GRCm39) R24* probably null Het
Celsr2 T C 3: 108,307,025 (GRCm39) D1974G possibly damaging Het
Cps1 A G 1: 67,234,358 (GRCm39) K915R probably benign Het
Csmd1 T C 8: 16,408,362 (GRCm39) D401G probably damaging Het
Dusp13b A G 14: 21,785,086 (GRCm39) F141S probably damaging Het
Eif1ad19 A G 12: 87,740,478 (GRCm39) V27A probably benign Het
Fam162b A G 10: 51,466,439 (GRCm39) W27R probably benign Het
Focad A G 4: 88,096,424 (GRCm39) T269A probably benign Het
Ghr T A 15: 3,357,544 (GRCm39) R241S possibly damaging Het
Hirip3 AAGAG AAG 7: 126,462,832 (GRCm39) probably null Het
Ift70a1 A T 2: 75,810,696 (GRCm39) N462K probably damaging Het
Itgb2l A G 16: 96,230,240 (GRCm39) Y357H possibly damaging Het
Jrkl T C 9: 13,244,938 (GRCm39) D241G possibly damaging Het
Lmod1 A G 1: 135,291,967 (GRCm39) D274G probably benign Het
Lrrn2 A G 1: 132,866,959 (GRCm39) S675G probably benign Het
Ltbp4 G C 7: 27,009,960 (GRCm39) P1200R probably damaging Het
Mdn1 T C 4: 32,735,576 (GRCm39) L3414P possibly damaging Het
Muc19 A G 15: 91,762,743 (GRCm39) noncoding transcript Het
Myo16 T A 8: 10,683,624 (GRCm39) S1856T probably damaging Het
Neb A G 2: 52,186,310 (GRCm39) Y921H probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Pgap3 T C 11: 98,281,960 (GRCm39) D117G probably damaging Het
Ppp1r9b T C 11: 94,892,812 (GRCm39) F671L possibly damaging Het
Rsph10b G A 5: 143,903,280 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,371,050 (GRCm39) D79V probably damaging Het
Tcaf3 T C 6: 42,568,368 (GRCm39) T663A probably damaging Het
Timd4 C A 11: 46,708,475 (GRCm39) T167K probably damaging Het
Tjp2 A G 19: 24,108,527 (GRCm39) L195P possibly damaging Het
Tnr G A 1: 159,679,856 (GRCm39) A277T probably benign Het
Trpm3 G A 19: 22,891,781 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,477 (GRCm39) G181D probably benign Het
Vmn1r11 T A 6: 57,114,492 (GRCm39) L52Q possibly damaging Het
Zfp27 T C 7: 29,595,254 (GRCm39) D237G possibly damaging Het
Zfp39 T C 11: 58,793,670 (GRCm39) T23A possibly damaging Het
Zfp459 T G 13: 67,556,600 (GRCm39) N161T probably benign 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
R2945:Purg UTSW 8 33,876,671 (GRCm39) missense probably damaging 1.00
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'- CTTCATCGAGCACTATGCCCATCTG -3'
(R):5'- TTGTCCACTCTGAAAGAGGTCCCC -3'

Sequencing Primer
(F):5'- GGGCCTGAAAGGCCACAG -3'
(R):5'- TCTGAAAGAGGTCCCCTCTGG -3'
Posted On 2014-05-23