Incidental Mutation 'R5421:Rad50'
ID 426584
Institutional Source Beutler Lab
Gene Symbol Rad50
Ensembl Gene ENSMUSG00000020380
Gene Name RAD50 double strand break repair protein
Synonyms Rad50l, Mrell
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5421 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53540346-53598146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53565773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 960 (D960G)
Ref Sequence ENSEMBL: ENSMUSP00000020649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020649] [ENSMUST00000128483]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020649
AA Change: D960G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: D960G

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 noncoding transcript
Transcript: ENSMUST00000126121
Predicted Effect probably benign
Transcript: ENSMUST00000128483
SMART Domains Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380

DomainStartEndE-ValueType
Pfam:AAA_23 6 295 6e-23 PFAM
coiled coil region 397 534 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A T 15: 74,421,876 (GRCm39) Q882L probably damaging Het
Afdn T C 17: 14,052,668 (GRCm39) V525A probably benign Het
AI987944 T C 7: 41,024,200 (GRCm39) T263A probably benign Het
Aldh1l2 T C 10: 83,363,271 (GRCm39) S31G probably damaging Het
Asxl1 T C 2: 153,241,504 (GRCm39) S685P probably benign Het
Blnk C A 19: 40,956,967 (GRCm39) V47F probably damaging Het
Bmp4 T A 14: 46,623,355 (GRCm39) M64L probably damaging Het
Bmpr2 T A 1: 59,909,577 (GRCm39) V1017E possibly damaging Het
C1ra C T 6: 124,499,749 (GRCm39) P645L probably benign Het
Cadm2 A T 16: 66,568,513 (GRCm39) C248* probably null Het
Cdk6 T C 5: 3,523,120 (GRCm39) V180A probably damaging Het
Colec12 A T 18: 9,858,580 (GRCm39) R454S probably damaging Het
Dennd3 T C 15: 73,438,964 (GRCm39) S1111P probably benign Het
Dmxl1 T C 18: 49,996,186 (GRCm39) probably null Het
Dnah2 G A 11: 69,326,462 (GRCm39) T3613I probably damaging Het
Elp6 A G 9: 110,143,132 (GRCm39) Q115R probably benign Het
Enpp1 A G 10: 24,545,655 (GRCm39) Y262H probably damaging Het
Far2 A G 6: 148,047,690 (GRCm39) probably null Het
Flnb C T 14: 7,926,494 (GRCm38) T1846I probably damaging Het
Folr2 C T 7: 101,489,851 (GRCm39) R139H probably benign Het
Fxn A T 19: 24,254,649 (GRCm39) probably null Het
Galnt13 A C 2: 54,747,908 (GRCm39) N263T probably damaging Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Htr5a G T 5: 28,055,985 (GRCm39) W325C possibly damaging Het
Itga4 T A 2: 79,146,385 (GRCm39) Y772* probably null Het
Kif12 T C 4: 63,089,665 (GRCm39) S59G probably benign Het
Kifc3 C T 8: 95,836,473 (GRCm39) R96Q probably damaging Het
Klrd1 T C 6: 129,575,406 (GRCm39) Y191H probably damaging Het
Ndst3 A T 3: 123,428,008 (GRCm39) probably null Het
Nek1 A C 8: 61,459,711 (GRCm39) R6S possibly damaging Het
Or4b13 G A 2: 90,083,089 (GRCm39) T81I probably benign Het
Or5p68 G C 7: 107,946,182 (GRCm39) A2G probably benign Het
Or6k8-ps1 C T 1: 173,979,861 (GRCm39) R260* probably null Het
Palld C T 8: 61,969,584 (GRCm39) E1005K probably damaging Het
Ppp2r1a T A 17: 21,176,968 (GRCm39) Y169N probably benign Het
Rad51ap2 A T 12: 11,509,368 (GRCm39) K915* probably null Het
Rasal2 T C 1: 157,126,711 (GRCm39) K109R probably benign Het
Rc3h1 G A 1: 160,779,400 (GRCm39) probably null Het
Rnf6 C T 5: 146,147,339 (GRCm39) V560I probably benign Het
Samd8 A G 14: 21,842,563 (GRCm39) D295G probably damaging Het
Scart1 T C 7: 139,803,813 (GRCm39) L337P probably damaging Het
Serpinb2 T C 1: 107,451,581 (GRCm39) Y245H probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc28a3 A T 13: 58,722,079 (GRCm39) F268L possibly damaging Het
Slc7a14 T C 3: 31,278,346 (GRCm39) T420A probably damaging Het
Speer4f2 A T 5: 17,579,356 (GRCm39) T52S possibly damaging Het
Spta1 A G 1: 174,043,095 (GRCm39) N1414D probably damaging Het
Sptbn5 A G 2: 119,911,261 (GRCm39) noncoding transcript Het
Syt9 T C 7: 107,024,563 (GRCm39) V152A probably benign Het
Thoc2l A T 5: 104,666,261 (GRCm39) N261I probably benign Het
Tln1 G A 4: 43,533,609 (GRCm39) A2315V possibly damaging Het
Tox C A 4: 6,842,409 (GRCm39) M40I possibly damaging Het
Ucp1 G A 8: 84,017,320 (GRCm39) A37T probably benign Het
Vapa A G 17: 65,902,031 (GRCm39) V33A possibly damaging Het
Vmn2r110 A G 17: 20,803,882 (GRCm39) L231S probably damaging Het
Vmn2r15 C T 5: 109,434,401 (GRCm39) A768T probably damaging Het
Vmn2r86 T C 10: 130,282,805 (GRCm39) T604A probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Wwc1 C T 11: 35,801,123 (GRCm39) E105K possibly damaging Het
Wwc1 T G 11: 35,766,890 (GRCm39) D455A possibly damaging Het
Zfp426 G A 9: 20,382,015 (GRCm39) A309V probably damaging Het
Zfp626 T A 7: 27,517,335 (GRCm39) N105K probably damaging 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
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
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'- TGTCGATGTCTTGCCTCATG -3'
(R):5'- CATGGCGATCCTCCTGTTTCAG -3'

Sequencing Primer
(F):5'- TCTCACATTCATTTAGTTGAACAGC -3'
(R):5'- GCCTCCTTCCCAAGTACTAATTCCAG -3'
Posted On 2016-09-01