Incidental Mutation 'R5916:Rad51b'
ID 461350
Institutional Source Beutler Lab
Gene Symbol Rad51b
Ensembl Gene ENSMUSG00000059060
Gene Name RAD51 paralog B
Synonyms R51H2, mREC2, Rad51l1, Rad51b
MMRRC Submission 044113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5916 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79344056-79861464 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 79371856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 190 (Q190*)
Ref Sequence ENSEMBL: ENSMUSP00000152105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079533] [ENSMUST00000171210] [ENSMUST00000218039]
AlphaFold O35719
Predicted Effect probably null
Transcript: ENSMUST00000079533
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: Q190*

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 null
Transcript: ENSMUST00000171210
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: Q190*

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 null
Transcript: ENSMUST00000218039
AA Change: Q190*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221257
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.2%
  • 20x: 92.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,349,550 (GRCm39) N269I possibly damaging Het
Abcc1 G T 16: 14,283,006 (GRCm39) V1161F possibly damaging Het
Adam3 A T 8: 25,174,555 (GRCm39) probably null Het
Agt A T 8: 125,290,597 (GRCm39) S237T possibly damaging Het
Ano3 A T 2: 110,512,181 (GRCm39) F674L probably benign Het
Asb2 G T 12: 103,290,135 (GRCm39) A504E probably damaging Het
Atp13a1 T A 8: 70,259,748 (GRCm39) I1113N probably damaging Het
Atxn7l2 T C 3: 108,112,978 (GRCm39) probably null Het
Bambi A G 18: 3,511,463 (GRCm39) T95A probably benign Het
Cfap210 A T 2: 69,619,806 (GRCm39) M1K probably null Het
Clrn1 T C 3: 58,753,783 (GRCm39) T193A probably benign Het
Colgalt2 T A 1: 152,379,873 (GRCm39) D437E probably damaging Het
Dchs1 C A 7: 105,408,373 (GRCm39) A1820S probably damaging Het
Dnah12 T A 14: 26,428,073 (GRCm39) I233N possibly damaging Het
Dsc3 T C 18: 20,120,077 (GRCm39) N194D probably damaging Het
Dync2h1 A G 9: 7,102,309 (GRCm39) probably null Het
Erich3 A T 3: 154,401,460 (GRCm39) R36S probably damaging Het
Fam243 T A 16: 92,117,559 (GRCm39) E243V probably damaging Het
Fmnl3 A T 15: 99,219,709 (GRCm39) C680S probably damaging Het
Focad T C 4: 88,275,778 (GRCm39) L1129P unknown Het
Fzd3 G A 14: 65,440,178 (GRCm39) T664I probably benign Het
Glb1l3 T C 9: 26,766,032 (GRCm39) I129V probably benign Het
Heatr1 T C 13: 12,449,352 (GRCm39) F1950S probably damaging Het
Herc6 G A 6: 57,623,188 (GRCm39) G597E probably benign Het
Hmcn2 T A 2: 31,286,151 (GRCm39) V2101D probably damaging Het
Il17re T A 6: 113,447,084 (GRCm39) C612S probably damaging Het
Il36g T G 2: 24,082,806 (GRCm39) *194E probably null Het
Junb T C 8: 85,704,505 (GRCm39) Y185C probably benign Het
Lrriq1 G A 10: 103,057,243 (GRCm39) Q186* probably null Het
Lrrn2 T A 1: 132,865,538 (GRCm39) V201E probably damaging Het
Ly6l A T 15: 75,323,027 (GRCm39) T68S probably benign Het
Marchf1 G T 8: 66,839,763 (GRCm39) R182L possibly damaging Het
Megf6 A G 4: 154,333,882 (GRCm39) probably null Het
Mga T A 2: 119,794,793 (GRCm39) S2708T probably benign Het
Mx1 T C 16: 97,252,933 (GRCm39) T396A probably benign Het
Naip5 A C 13: 100,359,209 (GRCm39) S676A probably benign Het
Npepl1 G T 2: 173,963,337 (GRCm39) W456C probably benign Het
Ntrk2 A G 13: 58,956,543 (GRCm39) M1V probably null Het
Nufip1 T C 14: 76,372,340 (GRCm39) *485Q probably null Het
Ocln T G 13: 100,642,687 (GRCm39) D216A possibly damaging Het
Or10x1 A T 1: 174,196,698 (GRCm39) T72S probably damaging Het
Or1o11 C T 17: 37,756,570 (GRCm39) L53F probably benign Het
Or4f57 A G 2: 111,791,175 (GRCm39) M81T probably damaging Het
Or55b4 G A 7: 102,133,586 (GRCm39) S247F probably damaging Het
Ptprq A T 10: 107,359,374 (GRCm39) M2243K probably damaging Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rfx8 T C 1: 39,727,779 (GRCm39) Y182C probably benign Het
Rpgrip1l C A 8: 91,979,541 (GRCm39) R967L possibly damaging Het
Scube2 A G 7: 109,430,931 (GRCm39) Y423H possibly damaging Het
Sipa1l2 A T 8: 126,195,312 (GRCm39) Y809N probably damaging Het
Slc35f1 C A 10: 52,809,317 (GRCm39) Y101* probably null Het
Tbc1d22a A G 15: 86,098,809 (GRCm39) K12E possibly damaging Het
Tent2 T C 13: 93,312,055 (GRCm39) D215G probably damaging Het
Tmcc2 C T 1: 132,285,429 (GRCm39) V646M probably damaging Het
Tpp1 A T 7: 105,398,587 (GRCm39) M243K probably damaging Het
Trappc12 A G 12: 28,741,513 (GRCm39) L732P probably damaging Het
U2af2 A T 7: 5,082,179 (GRCm39) probably null Het
Utrn T A 10: 12,540,795 (GRCm39) N1877Y probably damaging Het
Vsir C T 10: 60,193,816 (GRCm39) T93I probably damaging Het
Zkscan5 T A 5: 145,142,112 (GRCm39) M3K possibly damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
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
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'- ACTTTCCCATGTGGAGTGTG -3'
(R):5'- CTGCCACATTTACAGGTAGTTCAC -3'

Sequencing Primer
(F):5'- GGGACTCAGCAGTGTCTCTCTC -3'
(R):5'- AGAGGACTTCGGATCCCATTACTG -3'
Posted On 2017-02-28