Incidental Mutation 'IGL02572:Rad52'
ID299074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad52
Ensembl Gene ENSMUSG00000030166
Gene NameRAD52 homolog, DNA repair protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #IGL02572
Quality Score
Status
Chromosome6
Chromosomal Location119902698-119922828 bp(+) (GRCm38)
Type of Mutation
DNA Base Change (assembly) A to G at 119915227 bp
ZygosityHeterozygous
Amino Acid Change
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: ENSMUST00000162009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162255
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204319
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Rad52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rad52 APN 6 119918633 missense probably damaging 1.00
IGL02376:Rad52 APN 6 119915230
IGL03292:Rad52 APN 6 119918973 missense possibly damaging 0.96
R1693:Rad52 UTSW 6 119916035 missense probably damaging 1.00
R2076:Rad52 UTSW 6 119911079 missense probably benign 0.39
R2110:Rad52 UTSW 6 119920894 missense possibly damaging 0.80
R4753:Rad52 UTSW 6 119912985 intron probably benign
R5857:Rad52 UTSW 6 119911007 intron probably null
R5866:Rad52 UTSW 6 119912946 intron probably benign
R6193:Rad52 UTSW 6 119920182 missense probably benign 0.03
R6369:Rad52 UTSW 6 119914207 missense unknown
Posted On2015-04-16