Incidental Mutation 'R6639:Pdrg1'
ID 525638
Institutional Source Beutler Lab
Gene Symbol Pdrg1
Ensembl Gene ENSMUSG00000027472
Gene Name p53 and DNA damage regulated 1
Synonyms 1110004D19Rik
MMRRC Submission 044760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R6639 (G1)
Quality Score 182.009
Status Validated
Chromosome 2
Chromosomal Location 152850810-152857347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152857191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 17 (E17G)
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: E17G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028972
Gene: ENSMUSG00000027472
AA Change: E17G

DomainStartEndE-ValueType
Pfam:Prefoldin_2 17 109 6.1e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123083
AA Change: E17G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140325
Predicted Effect unknown
Transcript: ENSMUST00000140853
AA Change: E17G
Predicted Effect unknown
Transcript: ENSMUST00000150545
AA Change: E17G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152072
Meta Mutation Damage Score 0.4227 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,311,700 (GRCm39) I238L possibly damaging Het
Ankrd33b T C 15: 31,297,818 (GRCm39) Y313C probably damaging Het
Capn15 C T 17: 26,179,152 (GRCm39) V940I probably benign Het
Cdh3 G C 8: 107,237,973 (GRCm39) V56L probably benign Het
Cfap20dc A G 14: 8,536,530 (GRCm38) S226P probably benign Het
Cfap57 T C 4: 118,411,909 (GRCm39) E1245G probably benign Het
Depdc7 C T 2: 104,555,098 (GRCm39) D271N probably damaging Het
Dmtn T C 14: 70,854,870 (GRCm39) D10G probably damaging Het
Dusp12 T C 1: 170,708,243 (GRCm39) E158G probably damaging Het
Egf C T 3: 129,530,481 (GRCm39) G227D probably benign Het
Epha1 C A 6: 42,342,869 (GRCm39) E227* probably null Het
Fbxo40 A T 16: 36,790,937 (GRCm39) C58S probably damaging Het
Focad A G 4: 88,196,479 (GRCm39) T611A unknown Het
Fpr-rs4 C T 17: 18,242,394 (GRCm39) Q134* probably null Het
Fsip2 G A 2: 82,813,571 (GRCm39) D3297N possibly damaging Het
Garnl3 T C 2: 32,879,537 (GRCm39) R930G possibly damaging Het
Hdac4 A T 1: 91,898,670 (GRCm39) C695S probably damaging Het
Ier2 G A 8: 85,388,791 (GRCm39) T197M probably benign Het
Ift74 T A 4: 94,552,496 (GRCm39) probably benign Het
Kat6b A G 14: 21,567,562 (GRCm39) D207G possibly damaging Het
Khdrbs2 A T 1: 32,506,943 (GRCm39) R196* probably null Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Nrip1 G A 16: 76,090,883 (GRCm39) Q225* probably null Het
Or14j3 A G 17: 37,900,822 (GRCm39) C141R probably damaging Het
Or1n2 G A 2: 36,797,690 (GRCm39) C244Y probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rnf17 C T 14: 56,676,200 (GRCm39) P354S probably benign Het
Sh3rf3 T A 10: 58,919,289 (GRCm39) Y469N probably damaging Het
Thoc6 T A 17: 23,889,428 (GRCm39) probably null Het
Tpm3 C G 3: 89,987,109 (GRCm39) A24G probably damaging Het
Tuft1 T C 3: 94,539,930 (GRCm39) M93V probably benign Het
Vmn1r22 T C 6: 57,877,699 (GRCm39) I93V probably benign Het
Zfp383 T C 7: 29,614,152 (GRCm39) S136P probably benign Het
Zfp748 T C 13: 67,691,024 (GRCm39) K79E 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
R5867:Pdrg1 UTSW 2 152,855,975 (GRCm39) missense probably damaging 1.00
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'- TGAAAGGAAGGCGACTATCC -3'
(R):5'- ACAGTGCGTTGTGTTGCTCC -3'

Sequencing Primer
(F):5'- GGAAGGCGACTATCCAGCAC -3'
(R):5'- TCCTTCAGAGCCTGTAGGG -3'
Posted On 2018-06-22