Incidental Mutation 'R1591:Ruvbl2'
ID 175491
Institutional Source Beutler Lab
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene Name RuvB-like AAA ATPase 2
Synonyms p47, mp47
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45071320-45084817 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45074135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 253 (R253H)
Ref Sequence ENSEMBL: ENSMUSP00000147502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072453] [ENSMUST00000107771] [ENSMUST00000210271] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]
AlphaFold Q9WTM5
Predicted Effect probably benign
Transcript: ENSMUST00000072453
SMART Domains Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
GHB 25 131 2.2e-64 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107771
AA Change: R253H

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: R253H

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209426
Predicted Effect probably benign
Transcript: ENSMUST00000210271
Predicted Effect possibly damaging
Transcript: ENSMUST00000210439
AA Change: R233H

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211214
AA Change: R253H

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Meta Mutation Damage Score 0.5394 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lethality. Mice heterozygous for a knock-out allele exhibit impaired T cell development and maximal T dependent antibody responses. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(1) Gene trapped(11)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Ruvbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Ruvbl2 APN 7 45,074,596 (GRCm39) missense probably benign 0.07
IGL00970:Ruvbl2 APN 7 45,078,994 (GRCm39) missense possibly damaging 0.59
IGL01084:Ruvbl2 APN 7 45,071,947 (GRCm39) splice site probably null
IGL01382:Ruvbl2 APN 7 45,072,161 (GRCm39) missense probably benign 0.00
IGL01798:Ruvbl2 APN 7 45,071,587 (GRCm39) missense probably damaging 1.00
IGL01936:Ruvbl2 APN 7 45,078,122 (GRCm39) missense probably damaging 1.00
IGL02282:Ruvbl2 APN 7 45,074,589 (GRCm39) missense probably benign
Worker UTSW 7 45,080,742 (GRCm39) critical splice donor site probably benign
R0510:Ruvbl2 UTSW 7 45,080,730 (GRCm39) splice site probably benign
R0570:Ruvbl2 UTSW 7 45,071,621 (GRCm39) missense probably damaging 1.00
R1533:Ruvbl2 UTSW 7 45,073,566 (GRCm39) missense probably damaging 1.00
R1679:Ruvbl2 UTSW 7 45,074,391 (GRCm39) missense probably damaging 1.00
R1758:Ruvbl2 UTSW 7 45,074,586 (GRCm39) missense probably benign 0.39
R2113:Ruvbl2 UTSW 7 45,073,527 (GRCm39) splice site probably null
R3017:Ruvbl2 UTSW 7 45,071,588 (GRCm39) missense probably damaging 0.99
R3806:Ruvbl2 UTSW 7 45,071,614 (GRCm39) missense possibly damaging 0.65
R4940:Ruvbl2 UTSW 7 45,074,150 (GRCm39) missense probably damaging 1.00
R6045:Ruvbl2 UTSW 7 45,074,433 (GRCm39) missense probably damaging 1.00
R6222:Ruvbl2 UTSW 7 45,074,149 (GRCm39) missense probably damaging 1.00
R6754:Ruvbl2 UTSW 7 45,078,182 (GRCm39) missense probably benign 0.07
R6947:Ruvbl2 UTSW 7 45,074,373 (GRCm39) critical splice donor site probably null
R7366:Ruvbl2 UTSW 7 45,071,573 (GRCm39) missense probably benign 0.38
R8179:Ruvbl2 UTSW 7 45,072,196 (GRCm39) missense probably damaging 0.99
R8410:Ruvbl2 UTSW 7 45,080,756 (GRCm39) missense probably benign 0.00
R8534:Ruvbl2 UTSW 7 45,079,118 (GRCm39) splice site probably null
R9205:Ruvbl2 UTSW 7 45,083,741 (GRCm39) start gained probably benign
R9410:Ruvbl2 UTSW 7 45,071,618 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTCAGCCACCTTTGCATTGATCTG -3'
(R):5'- GAGTGGCACCCTCCTTACACTTTG -3'

Sequencing Primer
(F):5'- TGTGTCTCCTACCAGAGACGG -3'
(R):5'- CAAGATCTCCAAGCTGGGC -3'
Posted On 2014-04-24