Incidental Mutation 'R4753:Rad52'
ID 357728
Institutional Source Beutler Lab
Gene Symbol Rad52
Ensembl Gene ENSMUSG00000030166
Gene Name RAD52 homolog, DNA repair protein
Synonyms
MMRRC Submission 041971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R4753 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 119879659-119899789 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 119889946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032269] [ENSMUST00000161045] [ENSMUST00000162461]
AlphaFold P43352
Predicted Effect probably benign
Transcript: ENSMUST00000032269
SMART Domains Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166

DomainStartEndE-ValueType
Pfam:Rad52_Rad22 36 185 2.4e-56 PFAM
low complexity region 262 276 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160877
Predicted Effect probably benign
Transcript: ENSMUST00000161045
SMART Domains Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166

DomainStartEndE-ValueType
PDB:1H2I|V 1 64 2e-26 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162205
Predicted Effect probably benign
Transcript: ENSMUST00000162461
SMART Domains Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166

DomainStartEndE-ValueType
Pfam:Rad52_Rad22 36 184 6.6e-51 PFAM
low complexity region 262 276 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit normal reproductive and immune systems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T A 13: 112,500,009 (GRCm39) D257E probably benign Het
Arhgef18 T C 8: 3,494,938 (GRCm39) V399A probably damaging Het
Atp8b5 C T 4: 43,372,710 (GRCm39) P1117S probably damaging Het
Cd48 A G 1: 171,527,156 (GRCm39) Q194R probably damaging Het
Cdk13 G A 13: 17,937,833 (GRCm39) R737C probably damaging Het
Clasrp A T 7: 19,328,865 (GRCm39) I89N probably damaging Het
Clrn1 G T 3: 58,792,318 (GRCm39) N48K probably damaging Het
Cntrl T A 2: 35,043,451 (GRCm39) V1313E possibly damaging Het
Cyld T A 8: 89,471,444 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dtl T C 1: 191,301,815 (GRCm39) T81A probably damaging Het
Dus1l C T 11: 120,682,901 (GRCm39) E299K probably benign Het
E130114P18Rik A T 4: 97,463,129 (GRCm39) D14E possibly damaging Het
Fam83g C A 11: 61,586,095 (GRCm39) H228N probably damaging Het
Fhod3 A T 18: 25,223,382 (GRCm39) K909N possibly damaging Het
Fign T A 2: 63,809,363 (GRCm39) I636L probably benign Het
Foxm1 A G 6: 128,349,519 (GRCm39) E346G probably null Het
Gcc2 T C 10: 58,126,204 (GRCm39) Y1271H probably benign Het
Gcn1 T C 5: 115,754,537 (GRCm39) V2379A probably benign Het
Grin2d G T 7: 45,483,330 (GRCm39) P949Q probably damaging Het
Ighv1-43 C A 12: 114,909,762 (GRCm39) M53I probably benign Het
Itgad A G 7: 127,822,875 (GRCm39) *97W probably null Het
Jade1 C T 3: 41,551,106 (GRCm39) R2* probably null Het
Lama3 G T 18: 12,615,141 (GRCm39) C1355F probably damaging Het
Map3k13 T C 16: 21,710,752 (GRCm39) S12P probably benign Het
Masp2 A G 4: 148,696,608 (GRCm39) T402A probably benign Het
Mill1 A C 7: 17,996,472 (GRCm39) K96T probably benign Het
Muc19 T G 15: 91,761,955 (GRCm39) noncoding transcript Het
Muc5b C A 7: 141,410,590 (GRCm39) T1321N unknown Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or1ad1 T C 11: 50,875,978 (GRCm39) V150A probably benign Het
Or1e35 T A 11: 73,797,677 (GRCm39) I214F probably damaging Het
Pdgfra C T 5: 75,342,185 (GRCm39) P669S probably damaging Het
Procr A G 2: 155,595,384 (GRCm39) N63D probably damaging Het
Prrc2c A G 1: 162,518,799 (GRCm39) S2136P probably damaging Het
Rab11fip1 T C 8: 27,642,769 (GRCm39) M677V probably benign Het
Rasa1 A G 13: 85,436,509 (GRCm39) probably null Het
Rogdi T C 16: 4,828,363 (GRCm39) T189A probably damaging Het
Rph3al G A 11: 75,799,845 (GRCm39) T38M probably damaging Het
Rps6ka2 T A 17: 7,566,707 (GRCm39) V655E possibly damaging Het
Sik3 T C 9: 46,109,512 (GRCm39) F499L probably damaging Het
Skint4 A G 4: 112,003,728 (GRCm39) N387S probably benign Het
Slc6a12 C T 6: 121,333,862 (GRCm39) probably benign Het
Stk36 A G 1: 74,665,255 (GRCm39) T667A probably benign Het
Svep1 T C 4: 58,053,212 (GRCm39) I3378V probably benign Het
Thnsl1 C T 2: 21,218,175 (GRCm39) T122I probably damaging Het
Timeless G A 10: 128,075,889 (GRCm39) probably benign Het
Tnxb G A 17: 34,914,909 (GRCm39) V1966I possibly damaging Het
Tril A G 6: 53,796,698 (GRCm39) F175L probably damaging Het
Vav1 A G 17: 57,613,140 (GRCm39) Y604C probably damaging Het
Zfp423 T A 8: 88,508,074 (GRCm39) M736L probably benign Het
Zscan10 A C 17: 23,826,208 (GRCm39) E123D probably damaging Het
Other mutations in Rad52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rad52 APN 6 119,895,594 (GRCm39) missense probably damaging 1.00
IGL02376:Rad52 APN 6 119,892,191 (GRCm39) splice site probably benign
IGL02572:Rad52 APN 6 119,892,188 (GRCm39) splice site probably benign
IGL03292:Rad52 APN 6 119,895,934 (GRCm39) missense possibly damaging 0.96
R1693:Rad52 UTSW 6 119,892,996 (GRCm39) missense probably damaging 1.00
R2076:Rad52 UTSW 6 119,888,040 (GRCm39) missense probably benign 0.39
R2110:Rad52 UTSW 6 119,897,855 (GRCm39) missense possibly damaging 0.80
R5857:Rad52 UTSW 6 119,887,968 (GRCm39) splice site probably null
R5866:Rad52 UTSW 6 119,889,907 (GRCm39) intron probably benign
R6193:Rad52 UTSW 6 119,897,143 (GRCm39) missense probably benign 0.03
R6369:Rad52 UTSW 6 119,891,168 (GRCm39) missense unknown
R8886:Rad52 UTSW 6 119,890,041 (GRCm39) missense probably damaging 0.99
R8888:Rad52 UTSW 6 119,890,041 (GRCm39) missense probably damaging 0.99
R8889:Rad52 UTSW 6 119,890,041 (GRCm39) missense probably damaging 0.99
R9321:Rad52 UTSW 6 119,889,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTATACATGAATGCCTAATCACCC -3'
(R):5'- GGGCCTCTGAGTCCATGAAATC -3'

Sequencing Primer
(F):5'- GACCTACTCAGCTCTACTCA -3'
(R):5'- CTGAGTCCATGAAATCTAGTAAAAGC -3'
Posted On 2015-11-11