Incidental Mutation 'R2843:Rad51'
ID 254365
Institutional Source Beutler Lab
Gene Symbol Rad51
Ensembl Gene ENSMUSG00000027323
Gene Name RAD51 recombinase
Synonyms Rad51a, Reca
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2843 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 118943295-118966554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118949114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 38 (V38A)
Ref Sequence ENSEMBL: ENSMUSP00000119444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000140939] [ENSMUST00000152327]
AlphaFold Q08297
Predicted Effect probably benign
Transcript: ENSMUST00000028795
AA Change: V38A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: V38A

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
AAA 119 306 8.27e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110828
Predicted Effect probably benign
Transcript: ENSMUST00000140939
AA Change: V38A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119444
Gene: ENSMUSG00000027323
AA Change: V38A

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: ENSMUST00000152327
AA Change: V38A

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323
AA Change: V38A

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
Pfam:Rad51 83 218 2.6e-71 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm C T 5: 90,674,324 (GRCm39) R279* probably null Het
Arhgef18 A G 8: 3,414,634 (GRCm39) E4G possibly damaging Het
Fbxw7 G A 3: 84,883,527 (GRCm39) R486Q probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Hmg20b G C 10: 81,182,404 (GRCm39) R209G probably benign Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Jade1 T C 3: 41,559,280 (GRCm39) Y454H probably damaging Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,403,549 (GRCm39) V288I probably benign Het
Pknox2 T C 9: 36,805,624 (GRCm39) N395S probably benign Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Vmn2r18 T A 5: 151,485,749 (GRCm39) T582S probably damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp84 T G 7: 29,474,758 (GRCm39) 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
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
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'- CCTCTGCCTTCTAAGTGATGG -3'
(R):5'- GCCAAGGGCTGTCACTATACAC -3'

Sequencing Primer
(F):5'- GCCTTCTAAGTGATGGTATTAAAGGC -3'
(R):5'- GCTGTCACTATACACCACCGTG -3'
Posted On 2014-12-04