Incidental Mutation 'R5648:Rhobtb2'
ID 441288
Institutional Source Beutler Lab
Gene Symbol Rhobtb2
Ensembl Gene ENSMUSG00000022075
Gene Name Rho-related BTB domain containing 2
Synonyms E130206H14Rik, Dbc2
MMRRC Submission 043169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5648 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70022439-70043085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70034593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 211 (R211S)
Ref Sequence ENSEMBL: ENSMUSP00000022665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022665]
AlphaFold Q91V93
Predicted Effect probably damaging
Transcript: ENSMUST00000022665
AA Change: R211S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: R211S

DomainStartEndE-ValueType
RHO 17 210 4.86e-36 SMART
low complexity region 227 249 N/A INTRINSIC
BTB 266 472 5.27e-15 SMART
BTB 500 598 2.78e-14 SMART
low complexity region 706 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225088
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,326,510 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,988 (GRCm39) V340A probably damaging Het
Cald1 G T 6: 34,739,267 (GRCm39) probably null Het
Col24a1 C T 3: 145,064,321 (GRCm39) T702I probably benign Het
Ddx50 T C 10: 62,452,049 (GRCm39) R725G unknown Het
Dnah9 A T 11: 65,818,581 (GRCm39) F68L probably benign Het
Dnmt3b G A 2: 153,519,118 (GRCm39) V651M probably damaging Het
Dock1 G A 7: 134,348,683 (GRCm39) C299Y probably damaging Het
Epha4 T C 1: 77,375,162 (GRCm39) I562V probably benign Het
Esco2 A T 14: 66,068,641 (GRCm39) V223D probably damaging Het
Ggt6 T C 11: 72,326,542 (GRCm39) I33T possibly damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm9847 A G 12: 14,545,130 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,676,070 (GRCm39) Y116F probably damaging Het
Gvin1 A T 7: 105,762,606 (GRCm39) I621K possibly damaging Het
Hyal6 T C 6: 24,734,235 (GRCm39) M56T possibly damaging Het
Hyou1 T A 9: 44,296,546 (GRCm39) D490E probably damaging Het
Igsf10 G C 3: 59,235,574 (GRCm39) Q1536E probably benign Het
Klk1b8 T C 7: 43,448,068 (GRCm39) S31P possibly damaging Het
Map3k6 A C 4: 132,970,646 (GRCm39) I178L probably benign Het
Mycbp2 T A 14: 103,528,778 (GRCm39) N427Y probably damaging Het
Ncr1 T A 7: 4,347,519 (GRCm39) I228N probably damaging Het
Nefh A T 11: 4,895,233 (GRCm39) Y319N probably damaging Het
Or4a80 A C 2: 89,582,417 (GRCm39) C252G probably damaging Het
Pakap T C 4: 57,854,848 (GRCm39) V120A probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pkhd1 T A 1: 20,628,850 (GRCm39) Y699F probably benign Het
Plekhd1 T C 12: 80,767,362 (GRCm39) L250P probably damaging Het
Reln A G 5: 22,203,570 (GRCm39) V1228A probably benign Het
Rps6kb1 T C 11: 86,403,697 (GRCm39) I305V possibly damaging Het
Slc12a2 G A 18: 58,029,382 (GRCm39) G256E possibly damaging Het
Slc4a1ap A G 5: 31,708,129 (GRCm39) probably null Het
Thoc1 A G 18: 9,962,390 (GRCm39) T92A possibly damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem117 T G 15: 94,992,653 (GRCm39) S438A possibly damaging Het
Ttll7 A G 3: 146,667,465 (GRCm39) N777S probably damaging Het
Ubd T A 17: 37,506,345 (GRCm39) V77E probably damaging Het
Ubqln3 A G 7: 103,790,117 (GRCm39) S658P probably damaging Het
Vmn1r78 G A 7: 11,886,693 (GRCm39) M101I possibly damaging Het
Wdr93 T C 7: 79,426,974 (GRCm39) C638R probably benign Het
Zfp983 T A 17: 21,877,947 (GRCm39) V50D probably damaging Het
Zhx3 A T 2: 160,623,881 (GRCm39) H95Q probably damaging Het
Other mutations in Rhobtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Rhobtb2 APN 14 70,034,037 (GRCm39) missense possibly damaging 0.82
IGL02437:Rhobtb2 APN 14 70,033,365 (GRCm39) missense probably damaging 1.00
dichotomy UTSW 14 70,038,104 (GRCm39) missense probably damaging 1.00
gutsy UTSW 14 70,038,080 (GRCm39) missense probably damaging 1.00
Paunchy UTSW 14 70,035,627 (GRCm39) missense probably damaging 1.00
reeses UTSW 14 70,037,160 (GRCm39) missense probably damaging 1.00
smoke UTSW 14 70,033,893 (GRCm39) missense probably damaging 0.99
waft UTSW 14 70,034,184 (GRCm39) missense probably benign 0.22
R0034:Rhobtb2 UTSW 14 70,026,137 (GRCm39) missense probably benign
R0149:Rhobtb2 UTSW 14 70,033,357 (GRCm39) missense probably benign 0.02
R0361:Rhobtb2 UTSW 14 70,033,357 (GRCm39) missense probably benign 0.02
R0376:Rhobtb2 UTSW 14 70,034,184 (GRCm39) missense probably benign 0.22
R0594:Rhobtb2 UTSW 14 70,031,397 (GRCm39) missense probably benign
R1005:Rhobtb2 UTSW 14 70,035,726 (GRCm39) missense probably damaging 1.00
R1072:Rhobtb2 UTSW 14 70,024,976 (GRCm39) small deletion probably benign
R1929:Rhobtb2 UTSW 14 70,033,893 (GRCm39) missense probably damaging 0.99
R1938:Rhobtb2 UTSW 14 70,034,062 (GRCm39) missense probably benign 0.01
R2058:Rhobtb2 UTSW 14 70,031,488 (GRCm39) missense possibly damaging 0.49
R2244:Rhobtb2 UTSW 14 70,024,976 (GRCm39) small deletion probably benign
R2992:Rhobtb2 UTSW 14 70,035,772 (GRCm39) missense probably damaging 1.00
R3953:Rhobtb2 UTSW 14 70,031,488 (GRCm39) missense possibly damaging 0.49
R4655:Rhobtb2 UTSW 14 70,033,438 (GRCm39) missense probably damaging 0.97
R4712:Rhobtb2 UTSW 14 70,037,160 (GRCm39) missense probably damaging 1.00
R4744:Rhobtb2 UTSW 14 70,031,451 (GRCm39) missense probably damaging 1.00
R4771:Rhobtb2 UTSW 14 70,034,499 (GRCm39) missense probably benign 0.20
R5990:Rhobtb2 UTSW 14 70,033,818 (GRCm39) missense probably damaging 1.00
R6166:Rhobtb2 UTSW 14 70,035,627 (GRCm39) missense probably damaging 1.00
R6186:Rhobtb2 UTSW 14 70,035,693 (GRCm39) missense probably damaging 1.00
R7448:Rhobtb2 UTSW 14 70,033,397 (GRCm39) nonsense probably null
R7591:Rhobtb2 UTSW 14 70,037,190 (GRCm39) missense possibly damaging 0.61
R7626:Rhobtb2 UTSW 14 70,034,386 (GRCm39) missense probably damaging 1.00
R7793:Rhobtb2 UTSW 14 70,034,280 (GRCm39) missense probably benign 0.01
R7898:Rhobtb2 UTSW 14 70,033,746 (GRCm39) missense probably damaging 1.00
R8026:Rhobtb2 UTSW 14 70,034,214 (GRCm39) missense probably benign 0.41
R8109:Rhobtb2 UTSW 14 70,038,080 (GRCm39) missense probably damaging 1.00
R8182:Rhobtb2 UTSW 14 70,034,070 (GRCm39) missense probably benign
R8687:Rhobtb2 UTSW 14 70,038,104 (GRCm39) missense probably damaging 1.00
R8704:Rhobtb2 UTSW 14 70,031,373 (GRCm39) missense probably damaging 1.00
R9166:Rhobtb2 UTSW 14 70,034,703 (GRCm39) missense probably damaging 1.00
R9303:Rhobtb2 UTSW 14 70,025,376 (GRCm39) missense probably damaging 1.00
R9304:Rhobtb2 UTSW 14 70,025,376 (GRCm39) missense probably damaging 1.00
R9627:Rhobtb2 UTSW 14 70,034,349 (GRCm39) missense probably damaging 1.00
R9686:Rhobtb2 UTSW 14 70,034,005 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCAGCACCAGGATGACATC -3'
(R):5'- TCCCACCTGGAAGAAAATGGC -3'

Sequencing Primer
(F):5'- GGATGACATCCGCACAGAGC -3'
(R):5'- ATGGCCAGGCTCCTACCATTAC -3'
Posted On 2016-11-08