Incidental Mutation 'R8410:Ruvbl2'
ID 652624
Institutional Source Beutler Lab
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene Name RuvB-like AAA ATPase 2
Synonyms p47, mp47
MMRRC Submission 067880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8410 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45071320-45084817 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45080756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 19 (I19V)
Ref Sequence ENSEMBL: ENSMUSP00000103400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000107771] [ENSMUST00000210439] [ENSMUST00000211150] [ENSMUST00000211214] [ENSMUST00000211666]
AlphaFold Q9WTM5
Predicted Effect probably benign
Transcript: ENSMUST00000003964
SMART Domains Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glyco_transf_5 28 274 5.2e-8 PFAM
Pfam:Glycogen_syn 31 663 N/A PFAM
low complexity region 670 686 N/A INTRINSIC
low complexity region 698 711 N/A INTRINSIC
low complexity region 716 733 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107771
AA Change: I19V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: I19V

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000210439
AA Change: I19V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000211150
Predicted Effect probably benign
Transcript: ENSMUST00000211214
AA Change: I19V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000211666
AA Change: I19V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (40/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A T 12: 110,635,145 (GRCm39) M131K probably benign Het
Alox15 T C 11: 70,235,753 (GRCm39) T569A probably benign Het
Arfgef1 A G 1: 10,229,867 (GRCm39) V1278A possibly damaging Het
Armc5 C T 7: 127,839,323 (GRCm39) R214C probably damaging Het
Asl A G 5: 130,042,351 (GRCm39) F242L possibly damaging Het
Atoh1 G A 6: 64,706,634 (GRCm39) G110S probably benign Het
Caskin1 T C 17: 24,721,123 (GRCm39) F488L possibly damaging Het
Chsy1 T A 7: 65,775,211 (GRCm39) L180Q probably damaging Het
D1Pas1 A T 1: 186,700,512 (GRCm39) Q147L probably benign Het
D930020B18Rik A G 10: 121,521,435 (GRCm39) probably benign Het
Dnah7b T A 1: 46,395,819 (GRCm39) probably null Het
Dsp A G 13: 38,380,791 (GRCm39) E2512G possibly damaging Het
Eci2 T C 13: 35,162,018 (GRCm39) K351R probably benign Het
Frem2 A G 3: 53,446,598 (GRCm39) V2390A possibly damaging Het
Frmpd2 G A 14: 33,217,624 (GRCm39) A40T probably damaging Het
Gapdhs G A 7: 30,437,335 (GRCm39) P77S unknown Het
Heatr5a T A 12: 51,984,903 (GRCm39) I637F probably benign Het
Jakmip1 G A 5: 37,274,828 (GRCm39) V449M possibly damaging Het
Myh14 G T 7: 44,282,907 (GRCm39) F737L probably damaging Het
Nbea A G 3: 55,944,684 (GRCm39) V560A probably damaging Het
Or13n4 T A 7: 106,423,745 (GRCm39) probably benign Het
Or2v2 A T 11: 49,004,511 (GRCm39) I14N possibly damaging Het
Or4f4-ps1 T A 2: 111,330,047 (GRCm39) M150K probably damaging Het
Or6x1 C T 9: 40,098,732 (GRCm39) T107I possibly damaging Het
Prex2 G T 1: 11,223,881 (GRCm39) R735L possibly damaging Het
Rrm2 T C 12: 24,758,622 (GRCm39) S55P probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Slc15a5 A T 6: 137,989,153 (GRCm39) M147K Het
St3gal5 A G 6: 72,119,281 (GRCm39) D158G probably benign Het
Stac3 G A 10: 127,339,199 (GRCm39) D103N probably damaging Het
Syt2 G A 1: 134,674,602 (GRCm39) E347K possibly damaging Het
Tent5b A G 4: 133,214,362 (GRCm39) Q411R possibly damaging Het
Ticrr A G 7: 79,317,423 (GRCm39) E319G probably damaging Het
Ttn A G 2: 76,539,985 (GRCm39) S34334P probably damaging Het
Uqcrb C A 13: 67,048,850 (GRCm39) R100L unknown Het
Usp43 T G 11: 67,747,146 (GRCm39) T854P probably damaging Het
Vmn2r102 T C 17: 19,898,196 (GRCm39) Y404H possibly damaging Het
Wrn C T 8: 33,759,048 (GRCm39) G970D probably damaging Het
Zfp456 A G 13: 67,520,915 (GRCm39) Y27H probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Zyx A T 6: 42,333,384 (GRCm39) N437Y probably benign 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
R1591:Ruvbl2 UTSW 7 45,074,135 (GRCm39) missense possibly damaging 0.57
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
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'- CCTCAGAGAGCATGTGACCAAC -3'
(R):5'- TTAGTGATTGATGGCCCAGAGG -3'

Sequencing Primer
(F):5'- GACCAACATGCACTTGTGTG -3'
(R):5'- ATGGCCCAGAGGGTGGTG -3'
Posted On 2020-10-20