Incidental Mutation 'R5325:Rad50'
ID 421904
Institutional Source Beutler Lab
Gene Symbol Rad50
Ensembl Gene ENSMUSG00000020380
Gene Name RAD50 double strand break repair protein
Synonyms Rad50l, Mrell
MMRRC Submission 042908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5325 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 53540346-53598146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53583690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 364 (I364L)
Ref Sequence ENSEMBL: ENSMUSP00000020649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020649] [ENSMUST00000124352] [ENSMUST00000128483]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020649
AA Change: I364L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: I364L

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
Predicted Effect probably benign
Transcript: ENSMUST00000124352
AA Change: I364L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380
AA Change: I364L

DomainStartEndE-ValueType
Pfam:AAA_23 6 290 2.7e-24 PFAM
coiled coil region 397 469 N/A INTRINSIC
Pfam:Rad50_zn_hook 597 652 1.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128483
AA Change: I364L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380
AA Change: I364L

DomainStartEndE-ValueType
Pfam:AAA_23 6 295 6e-23 PFAM
coiled coil region 397 534 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152598
Meta Mutation Damage Score 0.0977 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T A 11: 105,896,079 (GRCm39) M675K probably benign Het
Ccdc186 A T 19: 56,801,613 (GRCm39) I168N probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep83 A G 10: 94,573,768 (GRCm39) E219G probably damaging Het
Ctsj T C 13: 61,151,839 (GRCm39) T73A possibly damaging Het
Ddr2 T A 1: 169,829,406 (GRCm39) T283S probably benign Het
Ehbp1 T A 11: 22,045,370 (GRCm39) D768V possibly damaging Het
Evpl T C 11: 116,112,191 (GRCm39) D1833G probably damaging Het
Exoc1 A G 5: 76,685,549 (GRCm39) N87S probably benign Het
Fam98b A C 2: 117,101,132 (GRCm39) I315L possibly damaging Het
Fancg A G 4: 43,006,564 (GRCm39) V330A probably damaging Het
Fbxo30 G A 10: 11,166,846 (GRCm39) V523I possibly damaging Het
Fbxw27 A G 9: 109,599,161 (GRCm39) C419R probably damaging Het
Flt3 C A 5: 147,312,459 (GRCm39) V161L probably benign Het
Fndc7 G A 3: 108,790,765 (GRCm39) T87I probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm6457 A T 18: 14,703,498 (GRCm39) noncoding transcript Het
Gpr63 T C 4: 25,007,294 (GRCm39) V6A probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
H2-M10.2 C A 17: 36,596,471 (GRCm39) V125L probably benign Het
Hrh4 C T 18: 13,155,054 (GRCm39) Q198* probably null Het
Lrch4 A G 5: 137,636,168 (GRCm39) E373G probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Noa1 A C 5: 77,452,042 (GRCm39) D547E probably damaging Het
Nr2e1 G A 10: 42,448,780 (GRCm39) R153W probably damaging Het
Nudt9 A C 5: 104,198,487 (GRCm39) M1L possibly damaging Het
Odf2 T A 2: 29,802,583 (GRCm39) D282E probably benign Het
Olfr908 A T 9: 38,427,454 (GRCm39) N42I probably damaging Het
Or13a25 C A 7: 140,247,705 (GRCm39) H168Q probably benign Het
Or6ae1 T A 7: 139,742,026 (GRCm39) Y279F probably damaging Het
Osbpl5 C G 7: 143,245,665 (GRCm39) A816P probably damaging Het
Pan2 T C 10: 128,153,503 (GRCm39) I924T possibly damaging Het
Ppat A G 5: 77,076,269 (GRCm39) probably benign Het
Rnf7l A G 10: 63,257,458 (GRCm39) S21P probably benign Het
Robo2 A G 16: 73,770,673 (GRCm39) I484T possibly damaging Het
Ryr2 A T 13: 11,705,249 (GRCm39) M2839K probably damaging Het
Sin3b A G 8: 73,477,154 (GRCm39) D807G probably damaging Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Spib T C 7: 44,177,505 (GRCm39) T229A probably damaging Het
St14 A T 9: 31,008,274 (GRCm39) probably null Het
Syne4 A T 7: 30,018,401 (GRCm39) Y381F probably damaging Het
Sytl1 T C 4: 132,988,382 (GRCm39) probably benign Het
Tnpo3 A C 6: 29,602,012 (GRCm39) probably benign Het
Trim12a T A 7: 103,953,413 (GRCm39) I233F probably damaging Het
Tspan1 T A 4: 116,021,536 (GRCm39) N82Y probably damaging Het
Vmn1r60 T A 7: 5,547,201 (GRCm39) M300L probably benign Het
Wdr17 G A 8: 55,112,716 (GRCm39) A788V possibly damaging Het
Wwtr1 A T 3: 57,482,658 (GRCm39) V63E probably benign Het
Ylpm1 A G 12: 85,060,735 (GRCm39) probably benign Het
Zfp956 T C 6: 47,928,012 (GRCm39) probably benign 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
R0567:Rad50 UTSW 11 53,545,783 (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
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'- GACAGCAAACCTGGATTTCAAG -3'
(R):5'- GGCCTGATGGATTATACAGTGTAAG -3'

Sequencing Primer
(F):5'- TGGATTTCAAGATATTTACCAAGAGC -3'
(R):5'- CACAGTGCTCATTAGAGC -3'
Posted On 2016-08-04