Incidental Mutation 'R5867:Pdrg1'
ID 454210
Institutional Source Beutler Lab
Gene Symbol Pdrg1
Ensembl Gene ENSMUSG00000027472
Gene Name p53 and DNA damage regulated 1
Synonyms 1110004D19Rik
MMRRC Submission 043233-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R5867 (G1)
Quality Score 170
Status Not validated
Chromosome 2
Chromosomal Location 152850810-152857347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152855975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 40 (N40D)
Ref Sequence ENSEMBL: ENSMUSP00000028972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028972] [ENSMUST00000123083] [ENSMUST00000140853] [ENSMUST00000150545]
AlphaFold P59048
Predicted Effect probably damaging
Transcript: ENSMUST00000028972
AA Change: N40D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028972
Gene: ENSMUSG00000027472
AA Change: N40D

DomainStartEndE-ValueType
Pfam:Prefoldin_2 17 109 6.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140325
Predicted Effect probably benign
Transcript: ENSMUST00000140853
Predicted Effect probably benign
Transcript: ENSMUST00000150545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152072
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,416 (GRCm39) V2900A probably damaging Het
Akip1 A G 7: 109,306,684 (GRCm39) H127R probably benign Het
Alad A T 4: 62,431,203 (GRCm39) Y56N probably damaging Het
Aldoart1 T A 4: 72,770,770 (GRCm39) M13L probably benign Het
Ap1g1 C T 8: 110,545,614 (GRCm39) A89V probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Cd209b T C 8: 3,974,246 (GRCm39) I89V possibly damaging Het
Cd36 T C 5: 17,990,733 (GRCm39) K469R probably benign Het
Cdh20 T A 1: 109,976,581 (GRCm39) I82N probably damaging Het
Clmn G T 12: 104,748,014 (GRCm39) P511H probably damaging Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Cyp2a5 T C 7: 26,542,383 (GRCm39) F462L probably benign Het
Dclk2 A G 3: 86,699,166 (GRCm39) *709Q probably null Het
Drd1 T C 13: 54,208,182 (GRCm39) T4A probably benign Het
Ephb2 C T 4: 136,402,733 (GRCm39) V513I possibly damaging Het
Fam43a T A 16: 30,420,277 (GRCm39) V287E probably benign Het
Gm5134 A G 10: 75,844,450 (GRCm39) E602G probably benign Het
Gtsf2 C T 15: 103,348,063 (GRCm39) G149E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhl6 T C 16: 19,801,570 (GRCm39) T62A probably benign Het
Lamb1 T A 12: 31,348,954 (GRCm39) I662N possibly damaging Het
Lmod3 A G 6: 97,224,963 (GRCm39) V286A probably damaging Het
Mefv T C 16: 3,533,797 (GRCm39) D158G probably damaging Het
Mff T C 1: 82,728,327 (GRCm39) probably null Het
Mfsd6l G T 11: 68,448,036 (GRCm39) V296L possibly damaging Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Or5m3b A G 2: 85,871,795 (GRCm39) I45M probably benign Het
Pdk4 T A 6: 5,487,452 (GRCm39) H266L probably benign Het
Pi4k2a T C 19: 42,093,924 (GRCm39) probably null Het
Pkd1l2 T A 8: 117,781,750 (GRCm39) D765V probably damaging Het
Pspc1 A T 14: 56,999,498 (GRCm39) probably null Het
Ptprm T C 17: 67,352,976 (GRCm39) probably null Het
Spata31d1d T C 13: 59,875,054 (GRCm39) K827R possibly damaging Het
Srebf2 T A 15: 82,053,987 (GRCm39) F46Y probably damaging Het
Tfrc T A 16: 32,439,230 (GRCm39) C365S possibly damaging Het
Ttc7 A G 17: 87,629,900 (GRCm39) H294R possibly damaging Het
Ubr7 T A 12: 102,727,753 (GRCm39) Y92N probably damaging Het
Vmn1r42 A C 6: 89,821,761 (GRCm39) Y269* probably null Het
Vmn2r1 A G 3: 64,011,990 (GRCm39) E617G probably benign Het
Vps13c A G 9: 67,889,904 (GRCm39) probably null Het
Vps50 T C 6: 3,536,965 (GRCm39) L312P probably damaging Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zcchc3 A G 2: 152,256,444 (GRCm39) F85S probably damaging Het
Zfhx3 T C 8: 109,520,078 (GRCm39) L400P probably damaging Het
Other mutations in Pdrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1664:Pdrg1 UTSW 2 152,857,248 (GRCm39) start gained probably benign
R2939:Pdrg1 UTSW 2 152,854,355 (GRCm39) missense probably damaging 1.00
R4599:Pdrg1 UTSW 2 152,854,310 (GRCm39) missense probably benign 0.05
R5478:Pdrg1 UTSW 2 152,857,152 (GRCm39) critical splice donor site probably benign
R6639:Pdrg1 UTSW 2 152,857,191 (GRCm39) missense probably damaging 0.99
R6826:Pdrg1 UTSW 2 152,852,176 (GRCm39) critical splice donor site probably null
R8303:Pdrg1 UTSW 2 152,851,587 (GRCm39) missense probably damaging 1.00
Z1088:Pdrg1 UTSW 2 152,855,957 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCTAAGTTTCCCACGAGG -3'
(R):5'- TGCAGGCATTTTCCTAGCAC -3'

Sequencing Primer
(F):5'- AGGGCTTCAGTAAGGATG -3'
(R):5'- TAGCACCTTCTCTGGAGGAAG -3'
Posted On 2017-02-10