Incidental Mutation 'R1132:Rad50'
ID 94744
Institutional Source Beutler Lab
Gene Symbol Rad50
Ensembl Gene ENSMUSG00000020380
Gene Name RAD50 double strand break repair protein
Synonyms Rad50l, Mrell
MMRRC Submission 039205-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1132 (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 53585788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 331 (K331E)
Ref Sequence ENSEMBL: ENSMUSP00000020649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020649] [ENSMUST00000124352] [ENSMUST00000128483]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020649
AA Change: K331E

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: K331E

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: K331E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380
AA Change: K331E

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: K331E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380
AA Change: K331E

DomainStartEndE-ValueType
Pfam:AAA_23 6 295 6e-23 PFAM
coiled coil region 397 534 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152598
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,894,917 (GRCm39) V451A possibly damaging Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,093,420 (GRCm39) probably benign Het
C3 C T 17: 57,514,531 (GRCm39) probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cd163 G T 6: 124,286,055 (GRCm39) G202* probably null Het
Cdk8 A G 5: 146,236,625 (GRCm39) T347A probably benign Het
Cep170 C A 1: 176,577,603 (GRCm39) R1257L probably damaging Het
Cib1 A G 7: 79,877,778 (GRCm39) F168S probably damaging Het
Cntnap5c G A 17: 58,601,351 (GRCm39) G833D probably damaging Het
Dhx37 A T 5: 125,498,103 (GRCm39) I702N probably damaging Het
Dnah3 T C 7: 119,538,227 (GRCm39) K3586R possibly damaging Het
Fbxo31 ACGGCGCGGCG ACGGCGCGGCGCGGCG 8: 122,279,015 (GRCm39) probably null Het
Fbxo31 CGCGG CGCGGAGCGG 8: 122,279,019 (GRCm39) probably null Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gaa T C 11: 119,175,885 (GRCm39) S953P probably damaging Het
Inpp5j T C 11: 3,452,305 (GRCm39) E315G possibly damaging Het
Itsn2 T C 12: 4,708,464 (GRCm39) Y840H probably damaging Het
Kif1a T C 1: 92,983,743 (GRCm39) E653G probably damaging Het
Loxhd1 T C 18: 77,517,639 (GRCm39) V1829A possibly damaging Het
Myh8 C T 11: 67,187,957 (GRCm39) Q910* probably null Het
Or12d12 T C 17: 37,610,423 (GRCm39) R297G probably benign Het
Or14a257 A T 7: 86,138,425 (GRCm39) F111L probably benign Het
Or14j4 G T 17: 37,921,333 (GRCm39) T103K possibly damaging Het
Or2ag17 A T 7: 106,389,758 (GRCm39) I150N possibly damaging Het
Prdm4 A G 10: 85,735,145 (GRCm39) S666P probably damaging Het
Rbbp6 A G 7: 122,599,336 (GRCm39) probably benign Het
Selenbp1 C G 3: 94,844,644 (GRCm39) I100M probably benign Het
Skint6 A G 4: 112,755,296 (GRCm39) probably null Het
Stac3 T C 10: 127,343,128 (GRCm39) S208P probably benign Het
Tfap2a T C 13: 40,874,867 (GRCm39) probably null Het
Trhde T C 10: 114,248,383 (GRCm39) K939E possibly damaging Het
Vmn1r22 T C 6: 57,877,826 (GRCm39) I50M probably benign Het
Vmn1r39 C T 6: 66,781,428 (GRCm39) V260I probably benign Het
Zdhhc25 T C 15: 88,484,926 (GRCm39) L87P probably damaging Het
Zfp202 T C 9: 40,122,318 (GRCm39) L360P 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
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'- atggctcctgacaCAGCCCTTT -3'
(R):5'- AGCACCGAATGGTGGTGTCTTG -3'

Sequencing Primer
(F):5'- ctgacaCAGCCCTTTGAGAC -3'
(R):5'- TGAATCCTGACGTTCATGATACC -3'
Posted On 2014-01-05