Incidental Mutation 'R0270:Rad50'
ID 35242
Institutional Source Beutler Lab
Gene Symbol Rad50
Ensembl Gene ENSMUSG00000020380
Gene Name RAD50 double strand break repair protein
Synonyms Rad50l, Mrell
MMRRC Submission 038496-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0270 (G1)
Quality Score 215
Status Validated
Chromosome 11
Chromosomal Location 53540346-53598146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53558852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1129 (D1129G)
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: D1129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: D1129G

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
Meta Mutation Damage Score 0.6749 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 96.0%
  • 20x: 93.2%
Validation Efficiency 99% (113/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,093,906 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,440 (GRCm39) N304K probably benign Het
Abcf3 T A 16: 20,378,918 (GRCm39) probably null Het
Acadm C T 3: 153,641,961 (GRCm39) M190I possibly damaging Het
Adamtsl3 G A 7: 82,206,032 (GRCm39) R739Q probably damaging Het
Ank1 T A 8: 23,578,941 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,540,626 (GRCm39) probably benign Het
Arhgdib A G 6: 136,903,732 (GRCm39) V31A probably damaging Het
Arid4a A G 12: 71,119,406 (GRCm39) R342G probably damaging Het
Asic3 C T 5: 24,622,700 (GRCm39) L517F probably benign Het
Atxn7l1 C T 12: 33,392,150 (GRCm39) P242L possibly damaging Het
AY761185 T A 8: 21,434,616 (GRCm39) E37D possibly damaging Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Batf A T 12: 85,755,446 (GRCm39) T100S probably benign Het
Blcap A T 2: 157,399,897 (GRCm39) Y59* probably null Het
Cacnb3 G A 15: 98,540,440 (GRCm39) A350T probably damaging Het
Cdk15 T A 1: 59,349,965 (GRCm39) V319D probably damaging Het
Cenpf T C 1: 189,382,911 (GRCm39) H2661R probably benign Het
Cenpq T C 17: 41,240,941 (GRCm39) E106G probably damaging Het
Cfap43 A G 19: 47,785,642 (GRCm39) probably benign Het
Cfb G A 17: 35,079,362 (GRCm39) S778L possibly damaging Het
Clec2m A T 6: 129,302,571 (GRCm39) L152* probably null Het
Clspn T A 4: 126,467,029 (GRCm39) N631K probably damaging Het
Cntn2 T A 1: 132,449,462 (GRCm39) T660S probably damaging Het
Cntrob T A 11: 69,202,167 (GRCm39) H475L possibly damaging Het
Ddx46 T C 13: 55,821,917 (GRCm39) I863T probably benign Het
Dnah11 G A 12: 118,004,748 (GRCm39) T2191I probably damaging Het
Dock9 T C 14: 121,813,411 (GRCm39) T1703A probably benign Het
Fam13c C T 10: 70,380,343 (GRCm39) P424S probably benign Het
Fan1 T C 7: 63,998,619 (GRCm39) N968D probably benign Het
Fbxl20 A T 11: 97,989,329 (GRCm39) probably benign Het
Fkbp1b A T 12: 4,888,229 (GRCm39) probably benign Het
G930045G22Rik T A 6: 50,824,039 (GRCm39) noncoding transcript Het
Gm28042 C A 2: 119,872,073 (GRCm39) R1008S probably benign Het
Gon4l G A 3: 88,765,707 (GRCm39) S376N probably damaging Het
Gstt3 C A 10: 75,616,749 (GRCm39) R15L probably damaging Het
Gtdc1 A T 2: 44,642,186 (GRCm39) S73T possibly damaging Het
Hhatl A G 9: 121,613,786 (GRCm39) S419P probably benign Het
Hirip3 T G 7: 126,462,363 (GRCm39) S46R probably damaging Het
Hsf2 A G 10: 57,378,735 (GRCm39) T204A probably benign Het
Impg2 G A 16: 56,089,378 (GRCm39) E1108K possibly damaging Het
Itgb2l G T 16: 96,224,130 (GRCm39) probably benign Het
Itih5 A T 2: 10,256,075 (GRCm39) N847I probably benign Het
Kif1a T C 1: 92,982,164 (GRCm39) probably benign Het
Klhl1 T A 14: 96,755,780 (GRCm39) probably benign Het
Ktn1 T A 14: 47,952,119 (GRCm39) D963E probably benign Het
Lclat1 T A 17: 73,547,022 (GRCm39) V313E probably benign Het
Lrrn4 T C 2: 132,712,639 (GRCm39) S395G probably benign Het
Macroh2a1 G A 13: 56,243,927 (GRCm39) probably benign Het
Mbtps1 G A 8: 120,264,856 (GRCm39) probably benign Het
Me1 A G 9: 86,478,257 (GRCm39) probably benign Het
Mov10 C A 3: 104,702,721 (GRCm39) C948F probably benign Het
Mterf1a G A 5: 3,940,990 (GRCm39) Q293* probably null Het
Nfkb2 A T 19: 46,300,065 (GRCm39) M838L possibly damaging Het
Nhlrc2 T A 19: 56,540,302 (GRCm39) L97Q probably damaging Het
Nr6a1 A T 2: 38,629,032 (GRCm39) Y331N possibly damaging Het
Nup214 C T 2: 31,924,826 (GRCm39) A1785V probably damaging Het
Ogg1 C T 6: 113,306,217 (GRCm39) T138I probably benign Het
Or5ac20 A G 16: 59,104,116 (GRCm39) V248A probably damaging Het
Or5b107 A G 19: 13,143,251 (GRCm39) Y291C probably damaging Het
Or5b124 A G 19: 13,611,048 (GRCm39) Y191C probably damaging Het
Or7g17 T A 9: 18,768,127 (GRCm39) Y60N probably damaging Het
Plod2 G T 9: 92,466,574 (GRCm39) R178L probably benign Het
Polr3b T A 10: 84,554,339 (GRCm39) L1017Q probably benign Het
Postn C A 3: 54,291,971 (GRCm39) T724N probably damaging Het
Ppm1l T G 3: 69,225,309 (GRCm39) probably benign Het
Prpf8 T G 11: 75,396,075 (GRCm39) L1983R probably damaging Het
Psma7 A G 2: 179,681,193 (GRCm39) V59A probably benign Het
Qser1 T A 2: 104,619,306 (GRCm39) Y502F probably benign Het
Rasal1 C A 5: 120,812,794 (GRCm39) P606Q probably damaging Het
Rgs6 A G 12: 83,180,463 (GRCm39) Y438C probably damaging Het
Rnf180 A G 13: 105,388,774 (GRCm39) C73R probably benign Het
Rnf216 T A 5: 143,065,996 (GRCm39) I474F possibly damaging Het
Sdha A T 13: 74,480,366 (GRCm39) L371Q probably damaging Het
Sdk1 T G 5: 142,070,321 (GRCm39) L1162R possibly damaging Het
Sh3rf2 T C 18: 42,237,146 (GRCm39) I223T probably damaging Het
Sirpb1a A G 3: 15,475,587 (GRCm39) V316A probably damaging Het
Slc12a4 A T 8: 106,672,021 (GRCm39) I897N probably benign Het
Slc35d1 A T 4: 103,048,035 (GRCm39) V243E probably damaging Het
Slc4a11 T A 2: 130,532,852 (GRCm39) K200N possibly damaging Het
Slc9a8 T A 2: 167,293,216 (GRCm39) M188K probably damaging Het
Slco1a8 T A 6: 141,918,137 (GRCm39) I580F possibly damaging Het
Snrnp200 T C 2: 127,074,902 (GRCm39) S1492P probably damaging Het
Sphk2 T C 7: 45,360,149 (GRCm39) *618W probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tdpoz3 A G 3: 93,734,231 (GRCm39) N302S probably benign Het
Tdrd6 T C 17: 43,935,199 (GRCm39) M1950V probably benign Het
Tmem39a A G 16: 38,384,675 (GRCm39) probably benign Het
Trip4 A T 9: 65,765,640 (GRCm39) I353K probably damaging Het
Trip6 A T 5: 137,311,103 (GRCm39) F204L probably benign Het
Trpm4 T A 7: 44,968,677 (GRCm39) I419F possibly damaging Het
Ttn C A 2: 76,775,140 (GRCm39) E1967D probably damaging Het
Uba2 C T 7: 33,850,281 (GRCm39) V391M possibly damaging Het
Ubr4 T G 4: 139,206,746 (GRCm39) probably benign Het
Upf1 G A 8: 70,788,295 (GRCm39) probably benign Het
Vmn1r228 A C 17: 20,996,858 (GRCm39) V220G possibly damaging Het
Vmn2r79 A G 7: 86,652,594 (GRCm39) M429V probably benign Het
Vps36 C T 8: 22,700,472 (GRCm39) T210I possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Ybx1 C T 4: 119,138,788 (GRCm39) G126D probably benign Het
Yipf5 C A 18: 40,339,460 (GRCm39) probably benign Het
Zbtb47 A G 9: 121,596,641 (GRCm39) T666A probably benign Het
Zdhhc5 A C 2: 84,520,459 (GRCm39) S573A probably benign Het
Zfp457 A T 13: 67,441,991 (GRCm39) C99S probably damaging Het
Zfp52 T A 17: 21,781,564 (GRCm39) C471S probably damaging Het
Zfp558 C T 9: 18,379,252 (GRCm39) V71I probably damaging Het
Zfp655 A G 5: 145,181,267 (GRCm39) Y375C probably damaging Het
Zfp882 A T 8: 72,668,459 (GRCm39) T429S probably benign Het
Zmym2 T C 14: 57,187,141 (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
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
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'- AGGAGTGTCCATGAGAGCCACAAC -3'
(R):5'- TTGGCATTGGGGCGTCAGAAAG -3'

Sequencing Primer
(F):5'- ccattacattaaactcacagcaattc -3'
(R):5'- GGCTATGAAGACGAAATTCTTCAC -3'
Posted On 2013-05-09