Incidental Mutation 'R6222:Ruvbl2'
ID 504080
Institutional Source Beutler Lab
Gene Symbol Ruvbl2
Ensembl Gene ENSMUSG00000003868
Gene Name RuvB-like AAA ATPase 2
Synonyms p47, mp47
MMRRC Submission 044353-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6222 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45071320-45084817 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45074149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 248 (D248E)
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 probably damaging
Transcript: ENSMUST00000107771
AA Change: D248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: D248E

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 probably damaging
Transcript: ENSMUST00000210439
AA Change: D228E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211214
AA Change: D248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,531,923 (GRCm39) *217W probably null Het
Abcc3 A G 11: 94,259,431 (GRCm39) F337L probably benign Het
Abcc4 T A 14: 118,767,368 (GRCm39) H903L probably damaging Het
Akap7 T A 10: 25,159,844 (GRCm39) K119* probably null Het
Als2 T C 1: 59,219,284 (GRCm39) D1222G probably benign Het
Ano4 T C 10: 88,863,084 (GRCm39) Y296C probably damaging Het
Arid1b A G 17: 5,377,922 (GRCm39) probably null Het
Arl10 T C 13: 54,726,644 (GRCm39) F141L probably damaging Het
B130006D01Rik T C 11: 95,616,988 (GRCm39) probably benign Het
Bbs9 T A 9: 22,479,147 (GRCm39) S197T possibly damaging Het
Bicd1 A T 6: 149,414,463 (GRCm39) D392V probably damaging Het
Bmi1 T A 2: 18,688,513 (GRCm39) M168K possibly damaging Het
C7 A T 15: 5,041,423 (GRCm39) D494E possibly damaging Het
Cacna1s A T 1: 136,032,360 (GRCm39) N1221I probably benign Het
Cacng7 A G 7: 3,385,128 (GRCm39) T10A probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdpf1 T C 15: 85,691,643 (GRCm39) R108G possibly damaging Het
Ceacam5 A T 7: 17,479,472 (GRCm39) K196N probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Cma2 T C 14: 56,210,649 (GRCm39) I112T possibly damaging Het
Cntnap4 A G 8: 113,569,353 (GRCm39) S916G probably damaging Het
Cwf19l2 T A 9: 3,454,569 (GRCm39) Y627* probably null Het
Fam204a A G 19: 60,188,400 (GRCm39) probably null Het
Galnt1 T A 18: 24,397,591 (GRCm39) probably null Het
Gbe1 T C 16: 70,325,900 (GRCm39) probably null Het
Gm6871 C T 7: 41,196,006 (GRCm39) D244N probably damaging Het
Gna15 T C 10: 81,347,880 (GRCm39) T189A probably damaging Het
Igsf10 C T 3: 59,226,336 (GRCm39) D2446N possibly damaging Het
Ing2 T C 8: 48,121,966 (GRCm39) K194R possibly damaging Het
Ino80d G A 1: 63,097,684 (GRCm39) H737Y probably damaging Het
Izumo4 C T 10: 80,538,885 (GRCm39) R83W probably damaging Het
Kcnt1 G A 2: 25,782,522 (GRCm39) V219M probably damaging Het
Kiz A T 2: 146,732,981 (GRCm39) S386C probably damaging Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Or2ad1 T C 13: 21,327,047 (GRCm39) Y60C probably damaging Het
Or4c100 T C 2: 88,329,614 (GRCm39) Y62H probably benign Het
Pdzd2 T C 15: 12,374,652 (GRCm39) K1828E probably damaging Het
Prl3a1 T C 13: 27,460,097 (GRCm39) F194L probably benign Het
Prss1l A T 6: 41,374,100 (GRCm39) Y234F probably damaging Het
Reg1 A T 6: 78,404,357 (GRCm39) Q77L probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Serpinb5 T A 1: 106,798,070 (GRCm39) C20S probably benign Het
Sh2d4b A C 14: 40,542,694 (GRCm39) S361A probably damaging Het
Snx2 T A 18: 53,332,896 (GRCm39) L190* probably null Het
Sorcs3 A T 19: 48,748,296 (GRCm39) Y755F possibly damaging Het
Styxl2 G T 1: 165,926,214 (GRCm39) Q1133K probably benign Het
Tiam2 A G 17: 3,503,613 (GRCm39) Q930R probably damaging Het
Tll1 C A 8: 64,551,568 (GRCm39) G271V probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Tmem181a T C 17: 6,351,192 (GRCm39) V367A probably benign Het
Umodl1 T C 17: 31,221,866 (GRCm39) probably null Het
Virma C T 4: 11,527,820 (GRCm39) A1187V probably damaging Het
Wdr53 T C 16: 32,075,482 (GRCm39) V229A probably benign Het
Zcchc10 T C 11: 53,223,289 (GRCm39) 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
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'- GTGCAGGAAAGGACACACTC -3'
(R):5'- CACACTGGGATGTTTCTGTATCTTC -3'

Sequencing Primer
(F):5'- CAGGAAAGGACACACTCAGACG -3'
(R):5'- ATCTTCATGGGGTCCGGATGC -3'
Posted On 2018-02-28