Incidental Mutation 'R4878:Rad51'
ID 375037
Institutional Source Beutler Lab
Gene Symbol Rad51
Ensembl Gene ENSMUSG00000027323
Gene Name RAD51 recombinase
Synonyms Rad51a, Reca
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118943295-118966554 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 118950973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000140939] [ENSMUST00000152327]
AlphaFold Q08297
Predicted Effect probably benign
Transcript: ENSMUST00000028795
SMART Domains Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
AAA 119 306 8.27e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110828
Predicted Effect unknown
Transcript: ENSMUST00000140939
AA Change: F92L
SMART Domains Protein: ENSMUSP00000119444
Gene: ENSMUSG00000027323
AA Change: F92L

DomainStartEndE-ValueType
HhH1 58 77 2.52e-1 SMART
low complexity region 94 111 N/A INTRINSIC
Pfam:Rad51 126 178 9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141389
Predicted Effect probably benign
Transcript: ENSMUST00000151406
SMART Domains Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* 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
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
R7295:Rad51 UTSW 2 118,964,599 (GRCm39) missense possibly damaging 0.94
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'- TGTAATCTCAGCAGTCTGGCC -3'
(R):5'- CTAAACAGCTAGGGGTCGAG -3'

Sequencing Primer
(F):5'- CAGCAGTCTGGCCTTATCTAAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2016-03-17