Incidental Mutation 'R8489:Rad51b'
ID 657905
Institutional Source Beutler Lab
Gene Symbol Rad51b
Ensembl Gene ENSMUSG00000059060
Gene Name RAD51 paralog B
Synonyms R51H2, mREC2, Rad51l1, Rad51b
MMRRC Submission 067932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 79344056-79861464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79374024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 201 (S201L)
Ref Sequence ENSEMBL: ENSMUSP00000152105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079533] [ENSMUST00000171210] [ENSMUST00000218039]
AlphaFold O35719
Predicted Effect probably benign
Transcript: ENSMUST00000079533
AA Change: S201L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: S201L

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 benign
Transcript: ENSMUST00000171210
AA Change: S201L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: S201L

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 benign
Transcript: ENSMUST00000218039
AA Change: S201L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,254 (GRCm39) probably benign Het
Apc2 T G 10: 80,143,298 (GRCm39) L466R probably damaging Het
Baz1b C A 5: 135,245,709 (GRCm39) P386H probably damaging Het
Ccdc149 T C 5: 52,533,999 (GRCm39) D389G probably benign Het
Cit T A 5: 116,083,962 (GRCm39) probably null Het
Cmas C A 6: 142,702,596 (GRCm39) A33E probably benign Het
Dcaf7 A G 11: 105,942,743 (GRCm39) N230S probably damaging Het
Dcun1d5 C A 9: 7,206,837 (GRCm39) probably benign Het
Dennd5b T A 6: 148,986,389 (GRCm39) D58V probably benign Het
Dmrt2 C A 19: 25,655,831 (GRCm39) Q477K probably damaging Het
Eva1c A G 16: 90,672,999 (GRCm39) N90S probably damaging Het
Fcgbp A T 7: 27,804,435 (GRCm39) I1848F possibly damaging Het
Fgfr2 T G 7: 129,769,534 (GRCm39) M522L probably benign Het
Fshr C A 17: 89,293,795 (GRCm39) K294N probably benign Het
Gja10 T C 4: 32,601,866 (GRCm39) I173V probably benign Het
Gmnn A G 13: 24,941,614 (GRCm39) S32P probably damaging Het
Hdac9 T C 12: 34,487,180 (GRCm39) N95D probably damaging Het
Ipo13 T C 4: 117,758,219 (GRCm39) T715A probably damaging Het
Klrc2 A G 6: 129,635,787 (GRCm39) S97P probably benign Het
Lrrn4 G A 2: 132,721,364 (GRCm39) S151L probably benign Het
Man2a1 G T 17: 64,908,765 (GRCm39) S12I possibly damaging Het
Mplkipl1 T C 19: 61,164,085 (GRCm39) T117A probably damaging Het
Mrgprb8 T A 7: 48,038,701 (GRCm39) V124E possibly damaging Het
Myo5c T C 9: 75,180,128 (GRCm39) W690R probably damaging Het
Ncapd2 T C 6: 125,150,745 (GRCm39) K817E probably damaging Het
Or51k2 T C 7: 103,596,328 (GRCm39) I185T probably damaging Het
Or5h27 A G 16: 59,006,400 (GRCm39) *149Q probably null Het
Or5p60 T A 7: 107,724,372 (GRCm39) I33F probably benign Het
Or8b50 T C 9: 38,518,232 (GRCm39) M157T probably benign Het
Pcdh18 A T 3: 49,709,038 (GRCm39) I759N probably damaging Het
Pcdhac2 A T 18: 37,278,207 (GRCm39) N396Y probably damaging Het
Pcm1 T A 8: 41,766,437 (GRCm39) C1542S probably benign Het
Pcsk1 T A 13: 75,274,121 (GRCm39) V450E probably damaging Het
Pld2 A G 11: 70,445,121 (GRCm39) K574E probably damaging Het
Pramel52-ps T C 5: 94,531,551 (GRCm39) L145P probably damaging Het
Psmc1 C T 12: 100,089,356 (GRCm39) R410C probably benign Het
Rgs3 T A 4: 62,544,733 (GRCm39) L200Q probably damaging Het
Rims2 A G 15: 39,479,846 (GRCm39) M1293V probably damaging Het
Scin C T 12: 40,131,019 (GRCm39) G298D probably damaging Het
Scn8a C A 15: 100,867,014 (GRCm39) F123L probably damaging Het
Snapc3 G A 4: 83,369,531 (GRCm39) C353Y probably damaging Het
Sned1 C A 1: 93,210,978 (GRCm39) S231* probably null Het
Tex15 A G 8: 34,067,574 (GRCm39) T2335A probably benign Het
Tigd4 G A 3: 84,502,526 (GRCm39) G481D probably benign Het
Trank1 T G 9: 111,219,343 (GRCm39) F2027V probably benign Het
Ubr1 C T 2: 120,711,548 (GRCm39) A1449T probably benign Het
Ulk1 G T 5: 110,947,002 (GRCm39) Y89* probably null Het
Usp54 A G 14: 20,611,604 (GRCm39) F1071L probably benign Het
Utrn C T 10: 12,587,190 (GRCm39) E949K probably benign Het
Vmn2r65 T A 7: 84,589,964 (GRCm39) T651S possibly damaging Het
Wdfy1 A G 1: 79,739,368 (GRCm39) L17P probably damaging Het
Zfp672 G A 11: 58,220,681 (GRCm39) probably benign 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
R2998:Rad51b UTSW 12 79,349,263 (GRCm39) missense probably damaging 1.00
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
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'- AGATGTTTGCAGACCTCCATTG -3'
(R):5'- AAAGGGACACTTACTGGGATTG -3'

Sequencing Primer
(F):5'- CAGCTGCCAGGATTTACAGCTTG -3'
(R):5'- TGGGATTGAAAACTCCCCTG -3'
Posted On 2021-01-18