Incidental Mutation 'R2110:Rad52'
ID 232454
Institutional Source Beutler Lab
Gene Symbol Rad52
Ensembl Gene ENSMUSG00000030166
Gene Name RAD52 homolog, DNA repair protein
Synonyms
MMRRC Submission 040114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R2110 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 119879659-119899789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119897855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 356 (Q356L)
Ref Sequence ENSEMBL: ENSMUSP00000125502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032269] [ENSMUST00000060043] [ENSMUST00000088644] [ENSMUST00000088646] [ENSMUST00000162461] [ENSMUST00000203030] [ENSMUST00000177761] [ENSMUST00000161045]
AlphaFold P43352
Predicted Effect possibly damaging
Transcript: ENSMUST00000032269
AA Change: Q356L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166
AA Change: Q356L

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 probably benign
Transcript: ENSMUST00000060043
SMART Domains Protein: ENSMUSP00000063001
Gene: ENSMUSG00000045962

DomainStartEndE-ValueType
low complexity region 101 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
Pfam:Pkinase_Tyr 221 477 1.5e-44 PFAM
Pfam:Pkinase 221 479 4.4e-58 PFAM
Pfam:OSR1_C 500 537 2e-22 PFAM
coiled coil region 563 597 N/A INTRINSIC
low complexity region 734 746 N/A INTRINSIC
low complexity region 865 876 N/A INTRINSIC
low complexity region 1018 1028 N/A INTRINSIC
low complexity region 1042 1058 N/A INTRINSIC
internal_repeat_1 1136 1178 2.15e-5 PROSPERO
low complexity region 1289 1305 N/A INTRINSIC
low complexity region 1345 1357 N/A INTRINSIC
low complexity region 1379 1396 N/A INTRINSIC
low complexity region 1398 1428 N/A INTRINSIC
low complexity region 1429 1454 N/A INTRINSIC
low complexity region 1496 1515 N/A INTRINSIC
low complexity region 1542 1556 N/A INTRINSIC
low complexity region 1586 1609 N/A INTRINSIC
low complexity region 1670 1691 N/A INTRINSIC
low complexity region 1698 1712 N/A INTRINSIC
low complexity region 1738 1764 N/A INTRINSIC
low complexity region 1882 1900 N/A INTRINSIC
coiled coil region 2065 2092 N/A INTRINSIC
low complexity region 2103 2114 N/A INTRINSIC
low complexity region 2116 2140 N/A INTRINSIC
low complexity region 2208 2232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088644
SMART Domains Protein: ENSMUSP00000086017
Gene: ENSMUSG00000045962

DomainStartEndE-ValueType
low complexity region 101 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
Pfam:Pkinase_Tyr 221 477 5.5e-44 PFAM
Pfam:Pkinase 221 479 4.3e-56 PFAM
Pfam:OSR1_C 500 537 1.9e-22 PFAM
coiled coil region 563 597 N/A INTRINSIC
low complexity region 742 753 N/A INTRINSIC
low complexity region 919 935 N/A INTRINSIC
low complexity region 1050 1063 N/A INTRINSIC
low complexity region 1067 1076 N/A INTRINSIC
low complexity region 1146 1158 N/A INTRINSIC
low complexity region 1276 1286 N/A INTRINSIC
low complexity region 1300 1316 N/A INTRINSIC
internal_repeat_1 1394 1436 2.19e-5 PROSPERO
low complexity region 1547 1563 N/A INTRINSIC
low complexity region 1603 1615 N/A INTRINSIC
low complexity region 1637 1654 N/A INTRINSIC
low complexity region 1656 1686 N/A INTRINSIC
low complexity region 1687 1712 N/A INTRINSIC
low complexity region 1754 1773 N/A INTRINSIC
low complexity region 1800 1814 N/A INTRINSIC
low complexity region 1844 1867 N/A INTRINSIC
low complexity region 1928 1949 N/A INTRINSIC
low complexity region 1956 1970 N/A INTRINSIC
low complexity region 1996 2022 N/A INTRINSIC
low complexity region 2140 2158 N/A INTRINSIC
coiled coil region 2323 2350 N/A INTRINSIC
low complexity region 2361 2372 N/A INTRINSIC
low complexity region 2374 2398 N/A INTRINSIC
low complexity region 2466 2490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088646
SMART Domains Protein: ENSMUSP00000086019
Gene: ENSMUSG00000045962

DomainStartEndE-ValueType
low complexity region 101 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
Pfam:Pkinase_Tyr 221 477 1.3e-44 PFAM
Pfam:Pkinase 221 479 4e-58 PFAM
Pfam:OSR1_C 500 537 1.8e-22 PFAM
coiled coil region 563 597 N/A INTRINSIC
low complexity region 734 746 N/A INTRINSIC
low complexity region 864 874 N/A INTRINSIC
low complexity region 888 904 N/A INTRINSIC
internal_repeat_1 982 1024 7.56e-6 PROSPERO
low complexity region 1135 1151 N/A INTRINSIC
low complexity region 1191 1203 N/A INTRINSIC
low complexity region 1225 1242 N/A INTRINSIC
low complexity region 1244 1274 N/A INTRINSIC
low complexity region 1275 1300 N/A INTRINSIC
low complexity region 1342 1361 N/A INTRINSIC
low complexity region 1388 1402 N/A INTRINSIC
low complexity region 1432 1455 N/A INTRINSIC
low complexity region 1516 1537 N/A INTRINSIC
low complexity region 1544 1558 N/A INTRINSIC
low complexity region 1584 1610 N/A INTRINSIC
low complexity region 1700 1718 N/A INTRINSIC
coiled coil region 1883 1910 N/A INTRINSIC
low complexity region 1921 1932 N/A INTRINSIC
low complexity region 1934 1958 N/A INTRINSIC
low complexity region 2026 2050 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159903
Predicted Effect possibly damaging
Transcript: ENSMUST00000162461
AA Change: Q356L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166
AA Change: Q356L

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: ENSMUST00000162009
Predicted Effect probably benign
Transcript: ENSMUST00000203030
SMART Domains Protein: ENSMUSP00000145304
Gene: ENSMUSG00000045962

DomainStartEndE-ValueType
low complexity region 101 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
Pfam:Pkinase_Tyr 221 477 4.1e-44 PFAM
Pfam:Pkinase 221 479 3.2e-56 PFAM
Pfam:OSR1_C 500 537 1.5e-22 PFAM
coiled coil region 563 597 N/A INTRINSIC
low complexity region 734 746 N/A INTRINSIC
low complexity region 793 809 N/A INTRINSIC
internal_repeat_1 887 929 5.8e-6 PROSPERO
low complexity region 1040 1056 N/A INTRINSIC
low complexity region 1096 1108 N/A INTRINSIC
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1149 1179 N/A INTRINSIC
low complexity region 1180 1205 N/A INTRINSIC
low complexity region 1247 1266 N/A INTRINSIC
low complexity region 1293 1307 N/A INTRINSIC
low complexity region 1337 1360 N/A INTRINSIC
low complexity region 1421 1442 N/A INTRINSIC
low complexity region 1449 1463 N/A INTRINSIC
low complexity region 1489 1515 N/A INTRINSIC
low complexity region 1633 1651 N/A INTRINSIC
coiled coil region 1816 1843 N/A INTRINSIC
low complexity region 1854 1865 N/A INTRINSIC
low complexity region 1867 1891 N/A INTRINSIC
low complexity region 1959 1983 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160558
Predicted Effect probably benign
Transcript: ENSMUST00000177761
SMART Domains Protein: ENSMUSP00000136777
Gene: ENSMUSG00000045962

DomainStartEndE-ValueType
low complexity region 101 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
low complexity region 171 193 N/A INTRINSIC
Pfam:Pkinase_Tyr 221 477 1.7e-44 PFAM
Pfam:Pkinase 221 479 5.1e-58 PFAM
Pfam:OSR1_C 500 537 2.2e-22 PFAM
coiled coil region 563 597 N/A INTRINSIC
low complexity region 710 722 N/A INTRINSIC
low complexity region 828 839 N/A INTRINSIC
low complexity region 1005 1021 N/A INTRINSIC
low complexity region 1136 1149 N/A INTRINSIC
low complexity region 1153 1162 N/A INTRINSIC
low complexity region 1232 1244 N/A INTRINSIC
low complexity region 1291 1307 N/A INTRINSIC
internal_repeat_1 1385 1427 1.91e-5 PROSPERO
low complexity region 1538 1554 N/A INTRINSIC
low complexity region 1594 1606 N/A INTRINSIC
low complexity region 1628 1645 N/A INTRINSIC
low complexity region 1647 1677 N/A INTRINSIC
low complexity region 1678 1703 N/A INTRINSIC
low complexity region 1745 1764 N/A INTRINSIC
low complexity region 1791 1805 N/A INTRINSIC
low complexity region 1835 1858 N/A INTRINSIC
low complexity region 1919 1940 N/A INTRINSIC
low complexity region 1947 1961 N/A INTRINSIC
low complexity region 1987 2013 N/A INTRINSIC
low complexity region 2131 2149 N/A INTRINSIC
coiled coil region 2314 2341 N/A INTRINSIC
low complexity region 2352 2363 N/A INTRINSIC
low complexity region 2365 2389 N/A INTRINSIC
low complexity region 2457 2481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161045
SMART Domains Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166

DomainStartEndE-ValueType
PDB:1H2I|V 1 64 2e-26 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,373,848 (GRCm39) probably benign Het
Ablim1 T C 19: 57,032,245 (GRCm39) D638G possibly damaging Het
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Aim2 T C 1: 173,287,279 (GRCm39) M93T probably benign Het
Alpk2 T C 18: 65,440,151 (GRCm39) E414G possibly damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Bard1 T A 1: 71,114,550 (GRCm39) K144* probably null Het
Begain G T 12: 108,999,843 (GRCm39) Y514* probably null Het
Ccdc186 A T 19: 56,788,574 (GRCm39) I545N possibly damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cfap43 T C 19: 47,824,197 (GRCm39) Y58C probably damaging Het
Cfap54 A T 10: 92,722,229 (GRCm39) D2437E unknown Het
Chd2 A G 7: 73,079,735 (GRCm39) S1722P probably benign Het
Clec5a C T 6: 40,562,137 (GRCm39) G9E probably damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col3a1 C T 1: 45,369,305 (GRCm39) P331S unknown Het
Ctsk T C 3: 95,413,988 (GRCm39) I245T probably benign Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Eci2 A G 13: 35,174,699 (GRCm39) probably null Het
Ecm1 C T 3: 95,643,254 (GRCm39) A349T probably benign Het
Efemp2 A G 19: 5,525,190 (GRCm39) E32G probably damaging Het
Flt4 C A 11: 49,516,131 (GRCm39) T78K probably benign Het
Foxg1 A G 12: 49,431,708 (GRCm39) probably benign Het
Fv1 T C 4: 147,954,619 (GRCm39) V395A possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gpha2 T G 19: 6,277,532 (GRCm39) V96G probably damaging Het
Gse1 A G 8: 121,293,719 (GRCm39) Y228C probably damaging Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Ildr1 A G 16: 36,542,341 (GRCm39) E247G probably damaging Het
Ktn1 T A 14: 47,931,345 (GRCm39) M646K possibly damaging Het
Lrrc37a T A 11: 103,388,648 (GRCm39) H2259L unknown Het
Map1b A T 13: 99,567,629 (GRCm39) H1697Q unknown Het
Mdn1 A G 4: 32,700,409 (GRCm39) E1456G probably damaging Het
Mta1 C T 12: 113,095,248 (GRCm39) T467I probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Ncoa5 C A 2: 164,854,838 (GRCm39) D95Y possibly damaging Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nr3c2 T C 8: 77,635,156 (GRCm39) S86P possibly damaging Het
Nup153 A G 13: 46,837,404 (GRCm39) S1273P probably benign Het
Or8g52 G A 9: 39,631,018 (GRCm39) R165Q probably benign Het
Pcsk5 C A 19: 17,450,423 (GRCm39) G1142C probably damaging Het
Pgghg A G 7: 140,523,453 (GRCm39) D244G possibly damaging Het
Polr1has T C 17: 37,276,336 (GRCm39) V306A possibly damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Rhpn1 T A 15: 75,585,083 (GRCm39) F507I probably damaging Het
Rhpn2 T C 7: 35,076,433 (GRCm39) M328T probably benign Het
Rnf19a T C 15: 36,254,665 (GRCm39) I298V possibly damaging Het
Rwdd2a T C 9: 86,456,184 (GRCm39) V120A probably benign Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpina3a G A 12: 104,082,481 (GRCm39) A85T probably damaging Het
Slc16a11 G A 11: 70,106,146 (GRCm39) G80D probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Spg21 T A 9: 65,391,711 (GRCm39) probably null Het
Spopfm2 A G 3: 94,082,834 (GRCm39) S326P probably damaging Het
Sry T C Y: 2,662,901 (GRCm39) H253R unknown Het
Swt1 A G 1: 151,279,636 (GRCm39) S391P probably damaging Het
Uhrf2 A G 19: 30,033,888 (GRCm39) Y200C probably damaging Het
Utp15 T C 13: 98,391,493 (GRCm39) H248R probably damaging Het
Utp20 A G 10: 88,603,313 (GRCm39) probably null Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r56 A T 7: 5,199,179 (GRCm39) M146K probably damaging Het
Zfp143 A T 7: 109,685,453 (GRCm39) K399N probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y 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
R4753:Rad52 UTSW 6 119,889,946 (GRCm39) intron probably benign
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'- CTGAAAACTGTTCATCTGCTCC -3'
(R):5'- GTCAGCGTCTTAAAATGAACTAGCAC -3'

Sequencing Primer
(F):5'- CCTGCTGGCTGCCACATG -3'
(R):5'- ATGAACTAGCACCTTTCCTTTACATG -3'
Posted On 2014-09-18