Incidental Mutation 'R2010:Nbn'
ID 219441
Institutional Source Beutler Lab
Gene Symbol Nbn
Ensembl Gene ENSMUSG00000028224
Gene Name nibrin
Synonyms Nbs1
MMRRC Submission 040019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2010 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 15957925-15992589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15969393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 213 (S213P)
Ref Sequence ENSEMBL: ENSMUSP00000120829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]
AlphaFold Q9R207
Predicted Effect probably damaging
Transcript: ENSMUST00000029879
AA Change: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: S213P

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
FHA 23 83 2.27e-4 SMART
BRCT 103 184 6.37e0 SMART
Pfam:NIBRIN_BRCT_II 216 325 2.2e-34 PFAM
low complexity region 557 565 N/A INTRINSIC
Nbs1_C 680 744 2.14e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118701
Predicted Effect probably damaging
Transcript: ENSMUST00000149069
AA Change: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: S213P

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
FHA 23 83 2.27e-4 SMART
BRCT 103 184 6.37e0 SMART
PDB:2K2W|A 217 326 3e-32 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik G A 3: 36,535,955 (GRCm39) G74S unknown Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Arhgef6 T C X: 56,344,865 (GRCm39) T52A possibly damaging Het
Aste1 C A 9: 105,280,701 (GRCm39) H25Q probably damaging Het
Atp13a1 G A 8: 70,244,010 (GRCm39) G36R possibly damaging Het
Bahcc1 T C 11: 120,163,604 (GRCm39) V634A probably damaging Het
Bltp1 T G 3: 36,982,700 (GRCm39) N788K probably benign Het
C1s1 A T 6: 124,514,353 (GRCm39) Y168N probably damaging Het
Camsap2 T C 1: 136,202,606 (GRCm39) S612G probably damaging Het
Cdh23 C A 10: 60,150,006 (GRCm39) R2611L probably damaging Het
Cfap20dc A T 14: 8,511,021 (GRCm38) F464L probably damaging Het
Cilp2 A G 8: 70,334,344 (GRCm39) Y885H probably damaging Het
Dhrs3 C T 4: 144,653,758 (GRCm39) T227I possibly damaging Het
Dnah2 A T 11: 69,349,184 (GRCm39) probably null Het
Dnah3 T G 7: 119,694,400 (GRCm39) M1L probably benign Het
Ehbp1l1 A G 19: 5,769,311 (GRCm39) I664T probably benign Het
Eif4e C T 3: 138,261,219 (GRCm39) T171I probably benign Het
Elfn1 C T 5: 139,959,071 (GRCm39) R692W probably damaging Het
Eps8l3 T A 3: 107,786,688 (GRCm39) M1K probably null Het
Evi5 C A 5: 107,961,411 (GRCm39) probably null Het
Fancd2 A T 6: 113,570,252 (GRCm39) D1401V probably damaging Het
Fat2 G A 11: 55,144,653 (GRCm39) R4074C probably damaging Het
Fkbp4 A T 6: 128,412,765 (GRCm39) V55E probably benign Het
Fnip1 A G 11: 54,373,329 (GRCm39) D180G probably damaging Het
Galc A G 12: 98,220,489 (GRCm39) F126S possibly damaging Het
Gdf7 C T 12: 8,351,729 (GRCm39) V69M unknown Het
Glis2 A G 16: 4,426,575 (GRCm39) E22G probably damaging Het
H2bc3 G A 13: 23,931,111 (GRCm39) V112M possibly damaging Het
Hps4 T A 5: 112,517,342 (GRCm39) V243E probably damaging Het
Ighe T A 12: 113,235,108 (GRCm39) I351F unknown Het
Irak4 A T 15: 94,449,687 (GRCm39) R55S probably damaging Het
Itpr2 G A 6: 146,129,022 (GRCm39) probably null Het
Katnip A G 7: 125,472,128 (GRCm39) I1544M possibly damaging Het
Kirrel3 T C 9: 34,850,494 (GRCm39) Y41H probably damaging Het
Krr1 A G 10: 111,811,474 (GRCm39) E56G possibly damaging Het
Lgi1 G A 19: 38,289,683 (GRCm39) V250I probably damaging Het
Lipf A G 19: 33,950,946 (GRCm39) N306D probably benign Het
Lman2l C T 1: 36,484,262 (GRCm39) W18* probably null Het
Lztfl1 T A 9: 123,531,251 (GRCm39) N239I possibly damaging Het
Mief1 T C 15: 80,132,126 (GRCm39) S66P possibly damaging Het
Mmp8 C A 9: 7,567,535 (GRCm39) S465* probably null Het
Muc2 A T 7: 141,287,444 (GRCm39) T208S probably damaging Het
Myh8 A T 11: 67,187,990 (GRCm39) K921* probably null Het
Myh9 T C 15: 77,656,147 (GRCm39) E1121G probably benign Het
Nol10 A G 12: 17,466,102 (GRCm39) E499G probably benign Het
Nxn T C 11: 76,289,627 (GRCm39) E87G probably damaging Het
Or14c40 A G 7: 86,313,811 (GRCm39) T314A probably benign Het
Or51f2 T A 7: 102,526,892 (GRCm39) C188* probably null Het
Or8g23 T C 9: 38,971,395 (GRCm39) H189R probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Pigk A G 3: 152,472,151 (GRCm39) I354M probably damaging Het
Pigl T A 11: 62,349,508 (GRCm39) C75S probably damaging Het
Pm20d1 T A 1: 131,739,852 (GRCm39) I400N probably benign Het
Prkg2 T A 5: 99,172,664 (GRCm39) H17L probably benign Het
Psmd1 T A 1: 86,003,719 (GRCm39) L168Q probably damaging Het
Rab3gap2 A T 1: 185,010,478 (GRCm39) H1136L possibly damaging Het
Rb1 T C 14: 73,532,433 (GRCm39) T134A probably benign Het
Rims1 T C 1: 22,367,220 (GRCm39) E1024G probably damaging Het
Rrp12 A G 19: 41,861,376 (GRCm39) V977A probably benign Het
Rusc2 C T 4: 43,415,212 (GRCm39) P173S probably benign Het
Selenov A T 7: 27,987,447 (GRCm39) D310E probably damaging Het
Serpina3f T A 12: 104,183,582 (GRCm39) L148Q probably damaging Het
Slc10a1 C T 12: 81,007,221 (GRCm39) V187I probably benign Het
Spsb2 A G 6: 124,787,339 (GRCm39) K258E probably damaging Het
Tas2r105 A C 6: 131,664,365 (GRCm39) V21G probably benign Het
Tmem229b-ps T A 10: 53,351,295 (GRCm39) noncoding transcript Het
Tnrc6a C G 7: 122,770,269 (GRCm39) H686Q probably benign Het
Trpc2 T A 7: 101,743,780 (GRCm39) F715L probably benign Het
Ube2t T A 1: 134,897,036 (GRCm39) I56N probably benign Het
Ubr4 T C 4: 139,207,963 (GRCm39) Y4915H possibly damaging Het
Usp32 T A 11: 84,930,830 (GRCm39) E533D probably damaging Het
Vipr2 T G 12: 116,086,430 (GRCm39) probably null Het
Vmn1r15 A G 6: 57,235,269 (GRCm39) T46A probably benign Het
Vmn1r203 T G 13: 22,708,617 (GRCm39) S133A possibly damaging Het
Vmn1r215 T G 13: 23,260,378 (GRCm39) N139K probably damaging Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Wdr20rt C A 12: 65,273,988 (GRCm39) H311N possibly damaging Het
Zranb1 T C 7: 132,568,425 (GRCm39) probably null Het
Other mutations in Nbn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nbn APN 4 15,964,320 (GRCm39) missense probably benign 0.01
IGL00921:Nbn APN 4 15,963,833 (GRCm39) missense possibly damaging 0.85
IGL01621:Nbn APN 4 15,965,221 (GRCm39) missense probably benign 0.45
IGL02372:Nbn APN 4 15,986,613 (GRCm39) missense probably benign 0.00
IGL03392:Nbn APN 4 15,962,362 (GRCm39) missense probably damaging 1.00
nebish UTSW 4 15,965,132 (GRCm39) critical splice acceptor site probably null
zenobia UTSW 4 15,969,391 (GRCm39) missense probably damaging 1.00
R0238:Nbn UTSW 4 15,986,672 (GRCm39) splice site probably benign
R0244:Nbn UTSW 4 15,979,353 (GRCm39) missense probably benign 0.00
R0432:Nbn UTSW 4 15,983,951 (GRCm39) unclassified probably benign
R0946:Nbn UTSW 4 15,970,719 (GRCm39) critical splice acceptor site probably null
R1076:Nbn UTSW 4 15,970,719 (GRCm39) critical splice acceptor site probably null
R1563:Nbn UTSW 4 15,981,668 (GRCm39) missense possibly damaging 0.77
R1579:Nbn UTSW 4 15,964,289 (GRCm39) missense probably damaging 0.99
R1660:Nbn UTSW 4 15,971,771 (GRCm39) missense probably benign 0.06
R1663:Nbn UTSW 4 15,970,903 (GRCm39) missense probably benign 0.13
R2005:Nbn UTSW 4 15,979,351 (GRCm39) missense probably benign 0.01
R2077:Nbn UTSW 4 15,979,389 (GRCm39) missense probably damaging 1.00
R2228:Nbn UTSW 4 15,970,904 (GRCm39) missense probably benign 0.01
R2229:Nbn UTSW 4 15,970,904 (GRCm39) missense probably benign 0.01
R2356:Nbn UTSW 4 15,970,863 (GRCm39) missense probably damaging 0.96
R2869:Nbn UTSW 4 15,963,810 (GRCm39) missense probably damaging 1.00
R2869:Nbn UTSW 4 15,963,810 (GRCm39) missense probably damaging 1.00
R3508:Nbn UTSW 4 15,962,387 (GRCm39) missense probably damaging 1.00
R3745:Nbn UTSW 4 15,976,163 (GRCm39) missense possibly damaging 0.67
R3753:Nbn UTSW 4 15,964,269 (GRCm39) missense probably damaging 0.98
R4756:Nbn UTSW 4 15,981,470 (GRCm39) missense probably benign 0.00
R5042:Nbn UTSW 4 15,981,446 (GRCm39) missense probably benign 0.10
R5177:Nbn UTSW 4 15,965,132 (GRCm39) critical splice acceptor site probably null
R5229:Nbn UTSW 4 15,963,893 (GRCm39) missense probably damaging 0.98
R5368:Nbn UTSW 4 15,969,391 (GRCm39) missense probably damaging 1.00
R5431:Nbn UTSW 4 15,986,593 (GRCm39) missense probably benign
R6025:Nbn UTSW 4 15,981,347 (GRCm39) missense probably damaging 0.97
R6375:Nbn UTSW 4 15,979,327 (GRCm39) missense probably benign
R6543:Nbn UTSW 4 15,986,605 (GRCm39) missense probably benign 0.39
R6655:Nbn UTSW 4 15,981,696 (GRCm39) missense probably damaging 0.98
R6965:Nbn UTSW 4 15,970,863 (GRCm39) missense probably benign 0.25
R7090:Nbn UTSW 4 15,981,350 (GRCm39) missense probably benign 0.06
R7159:Nbn UTSW 4 15,983,677 (GRCm39) splice site probably null
R7241:Nbn UTSW 4 15,991,190 (GRCm39) missense probably benign 0.00
R7267:Nbn UTSW 4 15,979,320 (GRCm39) missense probably benign 0.00
R7597:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R7937:Nbn UTSW 4 15,958,080 (GRCm39) missense probably damaging 0.99
R8110:Nbn UTSW 4 15,981,588 (GRCm39) missense probably benign 0.02
R8317:Nbn UTSW 4 15,970,893 (GRCm39) missense probably damaging 0.96
R8327:Nbn UTSW 4 15,981,470 (GRCm39) missense probably benign 0.00
R8725:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R8727:Nbn UTSW 4 15,963,911 (GRCm39) missense probably damaging 1.00
R8747:Nbn UTSW 4 15,981,555 (GRCm39) missense probably damaging 0.96
R8909:Nbn UTSW 4 15,970,833 (GRCm39) missense probably damaging 1.00
R8973:Nbn UTSW 4 15,986,585 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGACTTAGATCATTGTGCTTGG -3'
(R):5'- ATCAGTGGGATGCTGTACCC -3'

Sequencing Primer
(F):5'- GCTTGGCTCAAGTAGTACTGAAACTC -3'
(R):5'- GGATGCTGTACCCGTCTCTG -3'
Posted On 2014-08-25