Incidental Mutation 'R9205:Ruvbl2'
ID 698442
Institutional Source Beutler Lab
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene Name RuvB-like AAA ATPase 2
Synonyms p47, mp47
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9205 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45071320-45084817 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 45083741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148040 (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
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000210439
Predicted Effect probably benign
Transcript: ENSMUST00000211150
Predicted Effect probably benign
Transcript: ENSMUST00000211214
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency 95% (76/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 T A 6: 140,587,954 (GRCm39) H341Q probably damaging Het
Apob G A 12: 8,030,635 (GRCm39) A125T probably damaging Het
Bace2 G T 16: 97,158,059 (GRCm39) A20S unknown Het
Bcar1 T C 8: 112,442,341 (GRCm39) Y238C probably damaging Het
Brinp3 A T 1: 146,777,827 (GRCm39) D758V possibly damaging Het
Btnl10 T C 11: 58,811,345 (GRCm39) S223P probably damaging Het
Cckar C T 5: 53,864,587 (GRCm39) probably null Het
Cdhr2 A G 13: 54,861,801 (GRCm39) N66S probably benign Het
Chd9 A G 8: 91,757,270 (GRCm39) M1890V probably benign Het
Col6a5 C T 9: 105,755,837 (GRCm39) G2196R probably damaging Het
Col9a1 T G 1: 24,224,175 (GRCm39) M119R unknown Het
Cryaa A G 17: 31,898,642 (GRCm39) H123R probably damaging Het
Cux1 A T 5: 136,398,989 (GRCm39) D171E probably damaging Het
Dgkz T A 2: 91,764,144 (GRCm39) T1067S probably benign Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah5 T C 15: 28,448,480 (GRCm39) M4181T possibly damaging Het
Dnajb14 A G 3: 137,614,145 (GRCm39) E352G possibly damaging Het
Dnmt3l T A 10: 77,892,586 (GRCm39) probably null Het
Dph6 T C 2: 114,399,995 (GRCm39) I117V probably damaging Het
Dsg1a A G 18: 20,473,228 (GRCm39) D767G probably damaging Het
Edn3 C T 2: 174,603,482 (GRCm39) P77S possibly damaging Het
Fbln7 A C 2: 128,737,168 (GRCm39) S328R probably null Het
Fbn2 T C 18: 58,192,428 (GRCm39) R1518G probably damaging Het
Foxi2 A T 7: 135,013,525 (GRCm39) T252S probably benign Het
Foxred2 A G 15: 77,836,206 (GRCm39) S384P probably damaging Het
Gdpd1 G A 11: 86,936,009 (GRCm39) H174Y probably benign Het
Gm10542 A C 18: 44,337,705 (GRCm39) D61A possibly damaging Het
Gm10563 TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC 4: 155,720,307 (GRCm39) probably benign Het
H2-Ab1 A G 17: 34,483,981 (GRCm39) E114G probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Igfn1 C T 1: 135,903,695 (GRCm39) V348I probably damaging Het
Itpr1 T A 6: 108,466,810 (GRCm39) L2173Q probably damaging Het
Lamp5 A G 2: 135,901,521 (GRCm39) Y115C probably damaging Het
Lrp1 T A 10: 127,430,850 (GRCm39) K400* probably null Het
Man2a2 C T 7: 80,010,868 (GRCm39) V708I probably benign Het
Matr3 T C 18: 35,720,774 (GRCm39) S746P probably benign Het
Me1 C T 9: 86,480,847 (GRCm39) V353M probably benign Het
Mideas A C 12: 84,199,661 (GRCm39) F1020V probably benign Het
Nbeal1 T A 1: 60,317,839 (GRCm39) D1925E probably damaging Het
Oca2 T A 7: 55,966,168 (GRCm39) F387I probably damaging Het
Opn3 G T 1: 175,490,655 (GRCm39) N335K probably benign Het
Or5d36 T A 2: 87,900,778 (GRCm39) H316L probably benign Het
Or5k17 T G 16: 58,746,485 (GRCm39) I150L probably benign Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or6d12 T A 6: 116,493,315 (GRCm39) N192K probably benign Het
Or6k2 T C 1: 173,986,456 (GRCm39) I39T probably benign Het
Or8b48 T A 9: 38,493,373 (GRCm39) S267T probably benign Het
Osm A G 11: 4,188,504 (GRCm39) N44D possibly damaging Het
Otop2 T C 11: 115,219,912 (GRCm39) Y251H probably damaging Het
Pappa T C 4: 65,074,612 (GRCm39) S389P possibly damaging Het
Polr1d C T 5: 147,038,068 (GRCm39) A19V probably damaging Het
Ptchd4 G A 17: 42,814,276 (GRCm39) V726M probably benign Het
Pzp T A 6: 128,473,626 (GRCm39) D731V probably benign Het
Rgl2 A T 17: 34,155,002 (GRCm39) I669F probably damaging Het
Rpl38 T C 11: 114,563,114 (GRCm39) *71R probably null Het
Rufy1 G A 11: 50,289,301 (GRCm39) R514W probably damaging Het
Scn9a T G 2: 66,363,657 (GRCm39) I874L probably damaging Het
Slc14a2 A G 18: 78,238,951 (GRCm39) S85P probably benign Het
Slc17a1 A G 13: 24,062,794 (GRCm39) I287V probably benign Het
Slc35f3 T A 8: 127,115,928 (GRCm39) I285N probably damaging Het
Slx4 A G 16: 3,805,927 (GRCm39) S542P possibly damaging Het
Sox30 A T 11: 45,908,180 (GRCm39) L782F probably damaging Het
Sspo A G 6: 48,432,806 (GRCm39) N894S probably benign Het
Syne1 G A 10: 5,152,013 (GRCm39) Q5765* probably null Het
Taar7e T C 10: 23,913,972 (GRCm39) I154T probably benign Het
Tars1 A G 15: 11,397,265 (GRCm39) probably null Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem198b A T 10: 128,639,057 (GRCm39) C29S probably damaging Het
Tnr A C 1: 159,722,617 (GRCm39) M1021L probably benign Het
Tom1l1 G A 11: 90,548,644 (GRCm39) P309L probably damaging Het
Traf4 A G 11: 78,051,927 (GRCm39) S186P probably benign Het
Trpm1 T G 7: 63,890,319 (GRCm39) V974G possibly damaging Het
Tsga10 T A 1: 37,880,359 (GRCm39) probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r93 A T 17: 18,524,281 (GRCm39) I92F probably damaging Het
Zfp457 A T 13: 67,441,965 (GRCm39) D203E probably benign Het
Zfp518b G A 5: 38,831,501 (GRCm39) S168F probably damaging Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp777 G A 6: 48,002,521 (GRCm39) T523M 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
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
R9410:Ruvbl2 UTSW 7 45,071,618 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGTCAAACCAGGCATCTTCC -3'
(R):5'- TCGGACTTAGCAGTTGCAG -3'

Sequencing Primer
(F):5'- GTCAAACCAGGCATCTTCCTTATCAC -3'
(R):5'- CTTAGCAGTTGCAGGGCGG -3'
Posted On 2022-02-07