Incidental Mutation 'R0567:Rad50'
ID 46224
Institutional Source Beutler Lab
Gene Symbol Rad50
Ensembl Gene ENSMUSG00000020380
Gene Name RAD50 double strand break repair protein
Synonyms Rad50l, Mrell
MMRRC Submission 038758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0567 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53540346-53598146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53545783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1180 (R1180Q)
Ref Sequence ENSEMBL: ENSMUSP00000020649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020649]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020649
AA Change: R1180Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: R1180Q

DomainStartEndE-ValueType
Pfam:AAA_23 6 295 1.8e-31 PFAM
coiled coil region 397 534 N/A INTRINSIC
Pfam:Rad50_zn_hook 659 712 9.9e-16 PFAM
low complexity region 825 836 N/A INTRINSIC
low complexity region 919 929 N/A INTRINSIC
coiled coil region 1019 1075 N/A INTRINSIC
Pfam:SbcCD_C 1174 1251 1.1e-9 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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 highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Akr1b1 A T 6: 34,281,280 (GRCm39) probably null Het
Alox8 A T 11: 69,082,348 (GRCm39) probably null Het
Apcdd1 G A 18: 63,067,107 (GRCm39) E74K possibly damaging Het
Atr T C 9: 95,747,882 (GRCm39) V388A probably benign Het
AW554918 G A 18: 25,533,092 (GRCm39) E452K possibly damaging Het
C1galt1 A G 6: 7,866,874 (GRCm39) D240G probably damaging Het
Ceacam10 T A 7: 24,477,834 (GRCm39) D116E probably damaging Het
Col15a1 G T 4: 47,293,231 (GRCm39) V912L possibly damaging Het
Cyp3a11 G A 5: 145,805,959 (GRCm39) T136I probably damaging Het
Denr C T 5: 124,046,221 (GRCm39) T17M probably benign Het
Doc2b A G 11: 75,670,950 (GRCm39) F227S probably damaging Het
Dsp A T 13: 38,376,414 (GRCm39) T1400S probably benign Het
Egfr A T 11: 16,822,873 (GRCm39) D412V probably benign Het
Fryl C T 5: 73,222,734 (GRCm39) G1949D possibly damaging Het
Gstp3 A T 19: 4,107,636 (GRCm39) L176Q possibly damaging Het
H2ac12 T C 13: 22,219,734 (GRCm39) probably benign Het
Heatr5a T A 12: 51,956,872 (GRCm39) N1075I probably damaging Het
Ighv1-69 C T 12: 115,587,169 (GRCm39) probably benign Het
Lama3 A G 18: 12,682,309 (GRCm39) I1092V probably benign Het
Lipg A T 18: 75,090,440 (GRCm39) H36Q probably benign Het
Myh7b T C 2: 155,468,318 (GRCm39) W836R probably damaging Het
Oit3 A T 10: 59,271,800 (GRCm39) C186S probably damaging Het
Or4m1 A T 14: 50,558,115 (GRCm39) M59K probably damaging Het
P2ry2 T C 7: 100,647,748 (GRCm39) T186A probably damaging Het
Pyroxd2 T C 19: 42,724,364 (GRCm39) T300A probably benign Het
Rab26 C A 17: 24,748,556 (GRCm39) V283F probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Shroom3 A G 5: 93,112,312 (GRCm39) D1891G possibly damaging Het
Syne2 G A 12: 75,937,004 (GRCm39) E201K probably damaging Het
Taf6 A T 5: 138,181,988 (GRCm39) probably null Het
Tbc1d32 A T 10: 56,050,059 (GRCm39) M493K possibly damaging Het
Uaca A G 9: 60,778,663 (GRCm39) T1017A probably benign Het
Usp17le C T 7: 104,418,105 (GRCm39) V346I possibly damaging Het
Vmn1r71 T C 7: 10,482,556 (GRCm39) D44G probably damaging Het
Vmn2r80 A G 10: 79,030,665 (GRCm39) I830M possibly damaging Het
Yju2b A G 8: 84,987,294 (GRCm39) L93P probably damaging Het
Zfp994 T C 17: 22,419,449 (GRCm39) Y500C possibly damaging Het
Zscan20 A G 4: 128,483,243 (GRCm39) probably null Het
Other mutations in Rad50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Rad50 APN 11 53,577,138 (GRCm39) intron probably benign
IGL00709:Rad50 APN 11 53,560,469 (GRCm39) missense possibly damaging 0.49
IGL01080:Rad50 APN 11 53,596,895 (GRCm39) missense probably damaging 1.00
IGL01357:Rad50 APN 11 53,597,848 (GRCm39) missense probably damaging 1.00
IGL01979:Rad50 APN 11 53,577,005 (GRCm39) nonsense probably null
IGL02481:Rad50 APN 11 53,570,876 (GRCm39) missense probably benign 0.20
IGL02483:Rad50 APN 11 53,570,876 (GRCm39) missense probably benign 0.20
IGL02673:Rad50 APN 11 53,579,067 (GRCm39) missense probably benign 0.19
IGL02754:Rad50 APN 11 53,592,883 (GRCm39) missense probably damaging 1.00
IGL03372:Rad50 APN 11 53,586,121 (GRCm39) missense probably benign 0.20
PIT4131001:Rad50 UTSW 11 53,585,726 (GRCm39) critical splice donor site probably null
R0035:Rad50 UTSW 11 53,545,854 (GRCm39) splice site probably benign
R0035:Rad50 UTSW 11 53,545,854 (GRCm39) splice site probably benign
R0270:Rad50 UTSW 11 53,558,852 (GRCm39) missense probably damaging 1.00
R0373:Rad50 UTSW 11 53,541,346 (GRCm39) missense probably damaging 1.00
R1132:Rad50 UTSW 11 53,585,788 (GRCm39) missense possibly damaging 0.58
R1249:Rad50 UTSW 11 53,582,964 (GRCm39) missense probably damaging 0.99
R1368:Rad50 UTSW 11 53,574,072 (GRCm39) nonsense probably null
R1501:Rad50 UTSW 11 53,578,978 (GRCm39) missense possibly damaging 0.68
R1506:Rad50 UTSW 11 53,570,312 (GRCm39) missense probably damaging 0.98
R1633:Rad50 UTSW 11 53,583,686 (GRCm39) missense probably benign 0.00
R1663:Rad50 UTSW 11 53,559,050 (GRCm39) missense probably benign 0.01
R1847:Rad50 UTSW 11 53,592,934 (GRCm39) missense possibly damaging 0.68
R1933:Rad50 UTSW 11 53,570,888 (GRCm39) missense probably benign 0.16
R2176:Rad50 UTSW 11 53,589,036 (GRCm39) missense probably benign 0.00
R2519:Rad50 UTSW 11 53,598,012 (GRCm39) start gained probably benign
R3027:Rad50 UTSW 11 53,586,208 (GRCm39) missense probably benign 0.00
R3894:Rad50 UTSW 11 53,569,697 (GRCm39) missense probably benign 0.01
R4181:Rad50 UTSW 11 53,592,832 (GRCm39) missense probably benign 0.00
R4302:Rad50 UTSW 11 53,592,832 (GRCm39) missense probably benign 0.00
R4836:Rad50 UTSW 11 53,541,480 (GRCm39) missense probably damaging 1.00
R4934:Rad50 UTSW 11 53,575,102 (GRCm39) missense probably benign 0.05
R5047:Rad50 UTSW 11 53,565,523 (GRCm39) critical splice donor site probably null
R5201:Rad50 UTSW 11 53,589,647 (GRCm39) critical splice donor site probably null
R5325:Rad50 UTSW 11 53,583,690 (GRCm39) missense probably benign 0.16
R5368:Rad50 UTSW 11 53,575,073 (GRCm39) missense probably benign 0.02
R5403:Rad50 UTSW 11 53,586,108 (GRCm39) critical splice donor site probably null
R5421:Rad50 UTSW 11 53,565,773 (GRCm39) missense probably benign 0.02
R6282:Rad50 UTSW 11 53,560,597 (GRCm39) splice site probably null
R6468:Rad50 UTSW 11 53,582,971 (GRCm39) missense possibly damaging 0.81
R6469:Rad50 UTSW 11 53,575,062 (GRCm39) missense probably benign 0.08
R6528:Rad50 UTSW 11 53,543,109 (GRCm39) missense probably damaging 1.00
R6704:Rad50 UTSW 11 53,589,745 (GRCm39) missense probably damaging 1.00
R6886:Rad50 UTSW 11 53,577,011 (GRCm39) missense probably benign 0.01
R7055:Rad50 UTSW 11 53,578,929 (GRCm39) missense probably benign 0.02
R7268:Rad50 UTSW 11 53,575,102 (GRCm39) missense probably benign 0.01
R7288:Rad50 UTSW 11 53,545,776 (GRCm39) nonsense probably null
R7375:Rad50 UTSW 11 53,543,055 (GRCm39) splice site probably null
R7380:Rad50 UTSW 11 53,586,223 (GRCm39) missense probably benign 0.00
R7467:Rad50 UTSW 11 53,545,735 (GRCm39) missense probably damaging 1.00
R7533:Rad50 UTSW 11 53,589,746 (GRCm39) missense probably damaging 1.00
R8289:Rad50 UTSW 11 53,589,685 (GRCm39) nonsense probably null
R8345:Rad50 UTSW 11 53,574,968 (GRCm39) missense probably benign 0.00
R8368:Rad50 UTSW 11 53,574,155 (GRCm39) missense possibly damaging 0.83
R8514:Rad50 UTSW 11 53,569,766 (GRCm39) nonsense probably null
R8986:Rad50 UTSW 11 53,541,354 (GRCm39) missense possibly damaging 0.64
R9182:Rad50 UTSW 11 53,583,590 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTAGCCATGTCTGTCTCACAAGG -3'
(R):5'- GCAGACCACATGATCTGAGTCTTCC -3'

Sequencing Primer
(F):5'- CCAGGAAGCTGTAGGAGC -3'
(R):5'- TTGCAAGGCAGCCAGTG -3'
Posted On 2013-06-11