Incidental Mutation 'R7295:Rad51'
ID 566650
Institutional Source Beutler Lab
Gene Symbol Rad51
Ensembl Gene ENSMUSG00000027323
Gene Name RAD51 recombinase
Synonyms Rad51a, Reca
MMRRC Submission 045363-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7295 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118943295-118966554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118964599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 230 (T230I)
Ref Sequence ENSEMBL: ENSMUSP00000028795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000094695] [ENSMUST00000152327]
AlphaFold Q08297
Predicted Effect possibly damaging
Transcript: ENSMUST00000028795
AA Change: T230I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: T230I

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
AAA 119 306 8.27e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094695
SMART Domains Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 91 122 N/A INTRINSIC
low complexity region 135 148 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
SCOP:d1hxia_ 354 445 1e-7 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323
AA Change: T109I

DomainStartEndE-ValueType
Pfam:Rad51 1 196 5.4e-103 PFAM
Pfam:AAA_25 2 152 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152327
SMART Domains Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
Pfam:Rad51 83 218 2.6e-71 PFAM
Meta Mutation Damage Score 0.6656 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for targeted null mutations die prior to implantation, usually by the eight-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Acp7 A T 7: 28,328,955 (GRCm39) F75Y possibly damaging Het
Adamts19 T A 18: 58,970,955 (GRCm39) Y180N probably damaging Het
Adck1 G T 12: 88,397,815 (GRCm39) D150Y probably damaging Het
Alb T A 5: 90,610,693 (GRCm39) probably null Het
Baat A T 4: 49,490,275 (GRCm39) Y270N probably damaging Het
Bmp7 A T 2: 172,781,690 (GRCm39) I58N probably damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
Cbfa2t3 T G 8: 123,364,768 (GRCm39) D338A probably benign Het
Ccnd2 A T 6: 127,125,725 (GRCm39) C104S possibly damaging Het
Clip1 G T 5: 123,765,419 (GRCm39) Q713K probably benign Het
Ddx28 G A 8: 106,737,476 (GRCm39) S194L probably benign Het
Dync1h1 T C 12: 110,631,183 (GRCm39) probably null Het
Edil3 T A 13: 89,279,902 (GRCm39) Y193* probably null Het
Eprs1 A G 1: 185,150,407 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,967,589 (GRCm39) I63R probably damaging Het
Fam171a2 T C 11: 102,329,064 (GRCm39) E565G possibly damaging Het
Fbn1 T A 2: 125,177,407 (GRCm39) D1810V probably damaging Het
Foxj2 T C 6: 122,817,190 (GRCm39) S506P probably benign Het
Frmpd1 A G 4: 45,285,700 (GRCm39) E1507G probably damaging Het
Gfm1 G A 3: 67,347,514 (GRCm39) V258I probably benign Het
Gphn T C 12: 78,538,876 (GRCm39) V174A probably benign Het
Gtpbp3 C A 8: 71,942,139 (GRCm39) S123R possibly damaging Het
H2bc8 T C 13: 23,755,943 (GRCm39) S113P probably benign Het
Hbs1l T C 10: 21,186,051 (GRCm39) V491A probably benign Het
Hoxc12 A G 15: 102,846,810 (GRCm39) N234S probably damaging Het
Il22b A T 10: 118,130,848 (GRCm39) L16* probably null Het
Kcnj5 T C 9: 32,234,087 (GRCm39) D76G probably damaging Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Lonp1 G T 17: 56,929,495 (GRCm39) Q181K possibly damaging Het
Mgst1 A T 6: 138,124,754 (GRCm39) I23F probably benign Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Myocos T C 1: 162,484,687 (GRCm39) R41G unknown Het
Myod1 A G 7: 46,027,643 (GRCm39) D261G probably benign Het
Nop14 C T 5: 34,796,376 (GRCm39) R781Q probably damaging Het
Nsmaf A G 4: 6,438,083 (GRCm39) V63A probably benign Het
Ntsr1 A T 2: 180,142,725 (GRCm39) H172L probably damaging Het
Or4k6 T C 14: 50,476,073 (GRCm39) K90E probably damaging Het
Or8b1c A T 9: 38,384,739 (GRCm39) E232V probably benign Het
Pcdha11 T C 18: 37,139,979 (GRCm39) V536A probably damaging Het
Pcdha6 T A 18: 37,101,189 (GRCm39) N127K probably damaging Het
Prps1l1 T A 12: 35,035,679 (GRCm39) C265S probably benign Het
Prune2 A G 19: 17,097,261 (GRCm39) S922G probably benign Het
Qpctl A T 7: 18,883,055 (GRCm39) M19K probably benign Het
Rad9b A G 5: 122,472,341 (GRCm39) F246L possibly damaging Het
Rarb A T 14: 16,508,932 (GRCm38) probably null Het
Sdcbp2 T C 2: 151,429,321 (GRCm39) S214P possibly damaging Het
Slc22a1 T A 17: 12,875,892 (GRCm39) M441L probably benign Het
Slc35f1 G A 10: 52,938,637 (GRCm39) V190I probably benign Het
Spon1 A T 7: 113,629,475 (GRCm39) Q373L possibly damaging Het
Ssbp2 T A 13: 91,842,122 (GRCm39) probably null Het
Sult1e1 T A 5: 87,726,512 (GRCm39) R201* probably null Het
Traj32 T A 14: 54,423,606 (GRCm39) L16Q Het
Ttc16 T C 2: 32,664,437 (GRCm39) I67V probably null Het
Ttn T A 2: 76,556,899 (GRCm39) K30035N probably damaging Het
Ttn T A 2: 76,776,473 (GRCm39) Y1607F unknown Het
Usp16 G A 16: 87,268,977 (GRCm39) R290H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Xpnpep3 A G 15: 81,298,735 (GRCm39) H56R probably damaging Het
Zfp592 G T 7: 80,674,070 (GRCm39) D345Y probably damaging Het
Zfp931 A T 2: 177,709,824 (GRCm39) Y187* probably null Het
Other mutations in Rad51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Rad51 APN 2 118,949,183 (GRCm39) missense probably benign 0.44
IGL03028:Rad51 APN 2 118,946,795 (GRCm39) start codon destroyed possibly damaging 0.90
R0015:Rad51 UTSW 2 118,946,808 (GRCm39) missense probably benign 0.18
R0015:Rad51 UTSW 2 118,946,808 (GRCm39) missense probably benign 0.18
R1723:Rad51 UTSW 2 118,954,295 (GRCm39) missense probably benign 0.04
R2843:Rad51 UTSW 2 118,949,114 (GRCm39) missense probably benign 0.43
R3403:Rad51 UTSW 2 118,951,025 (GRCm39) intron probably benign
R4454:Rad51 UTSW 2 118,962,049 (GRCm39) missense probably damaging 1.00
R4672:Rad51 UTSW 2 118,954,327 (GRCm39) missense probably benign 0.22
R4878:Rad51 UTSW 2 118,950,973 (GRCm39) intron probably benign
R4945:Rad51 UTSW 2 118,957,629 (GRCm39) missense probably damaging 0.99
R5575:Rad51 UTSW 2 118,964,914 (GRCm39) missense probably benign 0.24
R7711:Rad51 UTSW 2 118,962,071 (GRCm39) missense probably benign 0.01
R8324:Rad51 UTSW 2 118,954,312 (GRCm39) missense possibly damaging 0.72
R9346:Rad51 UTSW 2 118,949,093 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTGATAGCCATGAATGCAGAC -3'
(R):5'- TTGTGACCACAGATATACCAAGAAC -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- ATGGCCAACTAATGTTTGTCTTTG -3'
Posted On 2019-06-26