Incidental Mutation 'R1723:Rad51'
ID 191596
Institutional Source Beutler Lab
Gene Symbol Rad51
Ensembl Gene ENSMUSG00000027323
Gene Name RAD51 recombinase
Synonyms Rad51a, Reca
MMRRC Submission 039755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1723 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118943295-118966554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118954295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 168 (M168R)
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: M125R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: M125R

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: M168R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119444
Gene: ENSMUSG00000027323
AA Change: M168R

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 unknown
Transcript: ENSMUST00000151406
AA Change: M4R
SMART Domains Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323
AA Change: M4R

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
AA Change: M125R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323
AA Change: M125R

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
Pfam:Rad51 83 218 2.6e-71 PFAM
Meta Mutation Damage Score 0.6246 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G T 6: 85,605,735 (GRCm39) G2462C probably damaging Het
Anapc5 T C 5: 122,937,406 (GRCm39) E464G probably damaging Het
Aoc3 T A 11: 101,227,261 (GRCm39) V378E possibly damaging Het
Atp13a5 T A 16: 29,051,551 (GRCm39) K1152I possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Calcoco1 C A 15: 102,627,988 (GRCm39) G49C probably damaging Het
Cd70 T C 17: 57,453,401 (GRCm39) T88A possibly damaging Het
Cpeb1 C T 7: 81,085,974 (GRCm39) R56Q probably benign Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnhd1 C A 7: 105,364,127 (GRCm39) P4160T possibly damaging Het
Ecel1 T C 1: 87,082,143 (GRCm39) D190G probably benign Het
Exoc6b A G 6: 85,046,326 (GRCm39) L21P probably damaging Het
Fam110c A G 12: 31,124,394 (GRCm39) R119G unknown Het
Gask1b T A 3: 79,843,970 (GRCm39) N32K probably benign Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Hpcal4 A G 4: 123,084,532 (GRCm39) I154V probably benign Het
Itgb1 A G 8: 129,452,519 (GRCm39) D728G probably damaging Het
Kdm5d A T Y: 927,753 (GRCm39) D701V probably damaging Het
Kif18a A G 2: 109,133,227 (GRCm39) K448E probably damaging Het
Kif26a T C 12: 112,140,292 (GRCm39) F507S possibly damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrrc43 T A 5: 123,630,276 (GRCm39) probably benign Het
Map3k20 T C 2: 72,219,836 (GRCm39) I256T probably damaging Het
Med29 T A 7: 28,092,130 (GRCm39) probably benign Het
Mob3b A G 4: 34,954,026 (GRCm39) C215R probably damaging Het
Mtf2 T C 5: 108,235,936 (GRCm39) Y87H probably damaging Het
Myo18a G A 11: 77,744,140 (GRCm39) R1834K probably damaging Het
Nlrc4 T A 17: 74,748,903 (GRCm39) D779V probably damaging Het
Or51q1c T C 7: 103,652,518 (GRCm39) F18S probably damaging Het
Otud3 T C 4: 138,625,329 (GRCm39) T242A probably damaging Het
Pcare A T 17: 72,057,373 (GRCm39) F768Y probably damaging Het
Pnliprp1 T A 19: 58,720,574 (GRCm39) M150K possibly damaging Het
Polm T A 11: 5,784,776 (GRCm39) Q227L probably benign Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppfia2 T A 10: 106,751,533 (GRCm39) probably null Het
Senp2 A G 16: 21,846,792 (GRCm39) T266A probably benign Het
Sfswap A G 5: 129,616,758 (GRCm39) T401A probably benign Het
Slc35a4 C A 18: 36,815,788 (GRCm39) T206K possibly damaging Het
Slc40a1 A G 1: 45,963,921 (GRCm39) S23P probably damaging Het
Spef2 T C 15: 9,614,295 (GRCm39) K1217R probably damaging Het
St18 A C 1: 6,880,909 (GRCm39) probably benign Het
Tdrd6 T C 17: 43,939,218 (GRCm39) D610G possibly damaging Het
Tmem163 C A 1: 127,479,108 (GRCm39) R137L probably damaging Het
Tmem94 T A 11: 115,685,574 (GRCm39) D942E probably damaging Het
Ttn T A 2: 76,580,754 (GRCm39) I23380F possibly damaging Het
Uckl1 T A 2: 181,212,393 (GRCm39) probably null Het
Vav2 T C 2: 27,208,976 (GRCm39) D99G possibly damaging Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Zbtb41 A T 1: 139,351,301 (GRCm39) Q138L probably benign Het
Zfp599 T C 9: 22,169,361 (GRCm39) Y37C probably damaging Het
Zfp784 T A 7: 5,038,782 (GRCm39) T259S possibly damaging Het
Zfp954 T C 7: 7,118,837 (GRCm39) S236G probably benign Het
Zng1 A G 19: 24,925,458 (GRCm39) V166A possibly damaging 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
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
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'- ATGAGTGCCCAGAACCTCCTATGT -3'
(R):5'- AGACTGTGCAActagagagatggct -3'

Sequencing Primer
(F):5'- cccttacatctttctgcttcatc -3'
(R):5'- gagagatggcttatcagttaagtg -3'
Posted On 2014-05-14