Incidental Mutation 'R2998:Rad51b'
ID 257219
Institutional Source Beutler Lab
Gene Symbol Rad51b
Ensembl Gene ENSMUSG00000059060
Gene Name RAD51 paralog B
Synonyms R51H2, mREC2, Rad51l1, Rad51b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2998 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79344056-79861464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79349263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 33 (L33H)
Ref Sequence ENSEMBL: ENSMUSP00000152105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079533] [ENSMUST00000171210] [ENSMUST00000218039]
AlphaFold O35719
Predicted Effect probably damaging
Transcript: ENSMUST00000079533
AA Change: L33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: L33H

DomainStartEndE-ValueType
Pfam:Rad51 61 256 3.1e-32 PFAM
Pfam:AAA_25 68 249 1.1e-15 PFAM
Pfam:KaiC 83 240 1.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171210
AA Change: L33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: L33H

DomainStartEndE-ValueType
Pfam:Rad51 61 256 3e-33 PFAM
Pfam:AAA_25 68 241 2.8e-16 PFAM
Pfam:KaiC 83 241 3.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218039
AA Change: L33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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 evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 T A 17: 57,517,284 (GRCm39) T1284S probably benign Het
Fggy T C 4: 95,737,822 (GRCm39) C140R probably benign Het
Klk1b26 A T 7: 43,666,222 (GRCm39) I222F probably benign Het
Or5al7 T A 2: 85,992,364 (GRCm39) I310L probably benign Het
Piwil2 A T 14: 70,648,687 (GRCm39) C251S probably damaging Het
Pop7 T C 5: 137,500,225 (GRCm39) D36G probably damaging Het
Rtl1 T C 12: 109,561,530 (GRCm39) E103G probably damaging Het
Slc13a2 T C 11: 78,295,611 (GRCm39) D85G probably damaging Het
Stat1 T A 1: 52,190,408 (GRCm39) N548K probably benign Het
Uggt2 A T 14: 119,286,797 (GRCm39) Y683N probably damaging Het
Other mutations in Rad51b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rad51b APN 12 79,349,327 (GRCm39) missense probably benign 0.00
IGL01599:Rad51b APN 12 79,374,002 (GRCm39) missense probably benign 0.30
IGL02955:Rad51b APN 12 79,371,856 (GRCm39) nonsense probably null
R1544:Rad51b UTSW 12 79,349,317 (GRCm39) missense possibly damaging 0.87
R3784:Rad51b UTSW 12 79,347,419 (GRCm39) nonsense probably null
R4076:Rad51b UTSW 12 79,361,656 (GRCm39) missense probably damaging 1.00
R5916:Rad51b UTSW 12 79,371,856 (GRCm39) nonsense probably null
R7489:Rad51b UTSW 12 79,347,359 (GRCm39) nonsense probably null
R7765:Rad51b UTSW 12 79,850,044 (GRCm39) critical splice donor site probably null
R8160:Rad51b UTSW 12 79,350,115 (GRCm39) missense probably benign 0.00
R8206:Rad51b UTSW 12 79,361,715 (GRCm39) missense probably damaging 1.00
R8489:Rad51b UTSW 12 79,374,024 (GRCm39) missense probably benign 0.08
R8977:Rad51b UTSW 12 79,704,662 (GRCm39) missense probably damaging 1.00
R9015:Rad51b UTSW 12 79,347,417 (GRCm39) missense probably damaging 1.00
R9073:Rad51b UTSW 12 79,344,439 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTGACAGCCCAAGTTTTCTG -3'
(R):5'- TGGAGATGAAAACTGAGTGCTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AACTGAGTGCTCATAGATGCTGC -3'
Posted On 2015-01-11