Incidental Mutation 'R4599:Pdrg1'
ID 345413
Institutional Source Beutler Lab
Gene Symbol Pdrg1
Ensembl Gene ENSMUSG00000027472
Gene Name p53 and DNA damage regulated 1
MMRRC Submission 041815-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R4599 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 153008890-153015427 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153012390 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 77 (I77V)
Ref Sequence ENSEMBL: ENSMUSP00000028972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028972] [ENSMUST00000123083] [ENSMUST00000140853] [ENSMUST00000150545]
AlphaFold P59048
Predicted Effect probably benign
Transcript: ENSMUST00000028972
AA Change: I77V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028972
Gene: ENSMUSG00000027472
AA Change: I77V

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 noncoding transcript
Transcript: ENSMUST00000150218
Predicted Effect probably benign
Transcript: ENSMUST00000150545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152072
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,255,403 (GRCm38) V930A probably benign Het
Ankrd13b T C 11: 77,471,668 (GRCm38) R677G probably benign Het
Apc T A 18: 34,317,987 (GRCm38) Y2611* probably null Het
Apold1 A G 6: 134,984,069 (GRCm38) Y162C probably damaging Het
Atp6v0a4 T C 6: 38,078,802 (GRCm38) I325V probably benign Het
Cab39 A G 1: 85,848,329 (GRCm38) Y249C probably damaging Het
Cd22 T A 7: 30,875,900 (GRCm38) H239L probably damaging Het
Chrna7 A G 7: 63,103,790 (GRCm38) M327T probably damaging Het
Cimip2b T C 4: 43,427,574 (GRCm38) H250R possibly damaging Het
Clock T C 5: 76,235,810 (GRCm38) M499V probably benign Het
Clspn A G 4: 126,581,460 (GRCm38) E1002G probably benign Het
Clta C T 4: 44,012,819 (GRCm38) P10S probably damaging Het
Col5a3 A G 9: 20,774,559 (GRCm38) probably null Het
Coq6 T C 12: 84,362,139 (GRCm38) V30A probably benign Het
Csmd2 G T 4: 127,988,128 (GRCm38) R20L probably benign Het
D430041D05Rik A T 2: 104,208,183 (GRCm38) V1547D probably damaging Het
Dapk1 C T 13: 60,718,047 (GRCm38) P153S probably benign Het
Dock2 T A 11: 34,239,536 (GRCm38) Y1545F probably damaging Het
Dpp6 G T 5: 27,634,548 (GRCm38) G354C probably damaging Het
Dyrk1b T C 7: 28,182,431 (GRCm38) L105P probably damaging Het
Epor A G 9: 21,961,859 (GRCm38) S86P probably benign Het
Gale C A 4: 135,967,837 (GRCm38) S341* probably null Het
Galnt4 T A 10: 99,109,493 (GRCm38) V360E probably damaging Het
Gart A T 16: 91,622,945 (GRCm38) C24* probably null Het
Gcnt2 G T 13: 40,887,490 (GRCm38) V42L probably benign Het
Herc6 A G 6: 57,659,713 (GRCm38) I805V probably benign Het
Ints12 T A 3: 133,098,453 (GRCm38) I67N probably benign Het
Irx1 C A 13: 71,960,113 (GRCm38) R150L probably damaging Het
Kif26b A G 1: 178,530,459 (GRCm38) Y45C unknown Het
Krt35 T C 11: 100,094,008 (GRCm38) T275A probably damaging Het
Laptm5 G T 4: 130,916,005 (GRCm38) probably benign Het
Lin7a T C 10: 107,412,166 (GRCm38) S111P unknown Het
Med27 A G 2: 29,524,458 (GRCm38) D159G probably damaging Het
Msh2 A G 17: 87,708,578 (GRCm38) K546R probably damaging Het
Myo1a A T 10: 127,720,151 (GRCm38) probably null Het
Myo1c T C 11: 75,668,193 (GRCm38) F604L probably damaging Het
Myrip A G 9: 120,464,784 (GRCm38) K782E probably damaging Het
Ndc80 T C 17: 71,521,068 (GRCm38) D88G probably damaging Het
Nrxn2 A G 19: 6,455,252 (GRCm38) D375G probably damaging Het
Or2y10 T C 11: 49,564,718 (GRCm38) S266P probably damaging Het
Or52e7 A G 7: 105,036,073 (GRCm38) I292V probably benign Het
Padi3 T C 4: 140,798,111 (GRCm38) H187R probably damaging Het
Pcdhgb1 A T 18: 37,681,557 (GRCm38) N367I probably damaging Het
Pfas T C 11: 68,991,069 (GRCm38) E930G probably benign Het
Pik3cb C T 9: 99,061,764 (GRCm38) R662Q probably benign Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Plxnd1 A T 6: 115,994,276 (GRCm38) V177E probably damaging Het
Prmt7 A G 8: 106,250,329 (GRCm38) S558G possibly damaging Het
Pspc1 A C 14: 56,777,789 (GRCm38) probably null Het
Rilp T C 11: 75,512,760 (GRCm38) S343P probably benign Het
Ror1 A G 4: 100,407,910 (GRCm38) M194V probably damaging Het
Rsu1 T C 2: 13,170,004 (GRCm38) Y225C probably damaging Het
Rundc1 A G 11: 101,433,926 (GRCm38) N486S probably damaging Het
Sema6d T A 2: 124,654,231 (GRCm38) I65N probably damaging Het
Slc5a11 A G 7: 123,258,378 (GRCm38) E230G probably benign Het
Spint1 T C 2: 119,246,460 (GRCm38) S342P probably damaging Het
Stard3nl A G 13: 19,367,753 (GRCm38) S214P probably damaging Het
Tcp10a A C 17: 7,336,924 (GRCm38) T271P probably damaging Het
Tie1 A G 4: 118,472,634 (GRCm38) Y1091H probably benign Het
Tlr12 T C 4: 128,617,332 (GRCm38) Y375C probably benign Het
Tmem107 T A 11: 69,071,448 (GRCm38) M77K probably damaging Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Tns3 T C 11: 8,531,747 (GRCm38) K202E probably damaging Het
Tspoap1 C T 11: 87,779,521 (GRCm38) P1634L probably damaging Het
Ttc7b G A 12: 100,500,117 (GRCm38) R79C probably damaging Het
Ush2a A G 1: 188,911,647 (GRCm38) N4402S probably benign Het
Vmn2r13 A T 5: 109,156,456 (GRCm38) I703N probably damaging Het
Xrcc4 A G 13: 90,062,007 (GRCm38) probably null Het
Zp3 A T 5: 135,984,235 (GRCm38) K168* probably null Het
Other mutations in Pdrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1664:Pdrg1 UTSW 2 153,015,328 (GRCm38) start gained probably benign
R2939:Pdrg1 UTSW 2 153,012,435 (GRCm38) missense probably damaging 1.00
R5478:Pdrg1 UTSW 2 153,015,232 (GRCm38) critical splice donor site probably benign
R5867:Pdrg1 UTSW 2 153,014,055 (GRCm38) missense probably damaging 1.00
R6639:Pdrg1 UTSW 2 153,015,271 (GRCm38) missense probably damaging 0.99
R6826:Pdrg1 UTSW 2 153,010,256 (GRCm38) critical splice donor site probably null
R8303:Pdrg1 UTSW 2 153,009,667 (GRCm38) missense probably damaging 1.00
Z1088:Pdrg1 UTSW 2 153,014,037 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-25