Incidental Mutation 'R6166:Rhobtb2'
ID 490162
Institutional Source Beutler Lab
Gene Symbol Rhobtb2
Ensembl Gene ENSMUSG00000022075
Gene Name Rho-related BTB domain containing 2
Synonyms E130206H14Rik, Dbc2
MMRRC Submission 044312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6166 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70022439-70043085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70035627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 148 (D148G)
Ref Sequence ENSEMBL: ENSMUSP00000022665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022665]
AlphaFold Q91V93
Predicted Effect probably damaging
Transcript: ENSMUST00000022665
AA Change: D148G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: D148G

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
Meta Mutation Damage Score 0.3499 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 A T 12: 84,039,378 (GRCm39) N296Y probably damaging Het
Ago2 T A 15: 72,996,089 (GRCm39) I347L probably benign Het
Aldh1l2 C T 10: 83,329,288 (GRCm39) probably null Het
Ap1ar A G 3: 127,606,177 (GRCm39) probably null Het
Arap3 T C 18: 38,107,423 (GRCm39) T1365A probably damaging Het
Arhgef17 A T 7: 100,525,699 (GRCm39) H1966Q probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atg13 G T 2: 91,506,736 (GRCm39) Q479K probably damaging Het
Bmp8a T C 4: 123,218,471 (GRCm39) T183A probably benign Het
Camta2 G C 11: 70,565,087 (GRCm39) probably null Het
Catspere2 A G 1: 177,931,403 (GRCm39) T441A unknown Het
Ccdc40 T C 11: 119,122,827 (GRCm39) S210P probably benign Het
Cnn2 A G 10: 79,824,561 (GRCm39) E17G possibly damaging Het
Cnot6l T C 5: 96,227,799 (GRCm39) D478G possibly damaging Het
Cplane1 A G 15: 8,216,044 (GRCm39) H478R probably benign Het
Csf2rb A G 15: 78,228,766 (GRCm39) Y369C probably damaging Het
Dll4 A G 2: 119,165,107 (GRCm39) probably null Het
Efcab6 A G 15: 83,780,316 (GRCm39) V1039A probably benign Het
Fam117a T C 11: 95,271,607 (GRCm39) M393T possibly damaging Het
Fancd2 T A 6: 113,532,212 (GRCm39) N508K possibly damaging Het
Fat1 T C 8: 45,405,522 (GRCm39) S758P probably damaging Het
Fgf20 T C 8: 40,732,881 (GRCm39) K186E probably damaging Het
Filip1 T C 9: 79,726,736 (GRCm39) K628E probably damaging Het
Fsip2 G T 2: 82,811,071 (GRCm39) K2463N probably benign Het
Gm15446 T A 5: 110,090,646 (GRCm39) Y299* probably null Het
Gm7363 A T 7: 3,986,784 (GRCm39) noncoding transcript Het
Gpx5 A T 13: 21,473,435 (GRCm39) F104I probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hmcn2 G A 2: 31,259,274 (GRCm39) G1038D probably damaging Het
Lgals9 C T 11: 78,862,184 (GRCm39) A134T probably benign Het
Lrba G A 3: 86,261,614 (GRCm39) probably null Het
Lypd10 A T 7: 24,413,644 (GRCm39) Q220L probably benign Het
Naprt T C 15: 75,763,326 (GRCm39) Q439R possibly damaging Het
Ndufs6 G A 13: 73,466,060 (GRCm39) probably benign Het
Nodal C A 10: 61,260,337 (GRCm39) S329R probably damaging Het
Olfm3 T A 3: 114,916,074 (GRCm39) N315K probably damaging Het
Or4k2 C T 14: 50,424,225 (GRCm39) V150I probably benign Het
Or6c3b A T 10: 129,527,148 (GRCm39) I254K probably damaging Het
Or6k2 A G 1: 173,986,659 (GRCm39) T107A probably benign Het
Plg T A 17: 12,617,001 (GRCm39) V373E probably damaging Het
Prdm2 A C 4: 142,861,306 (GRCm39) S661R probably damaging Het
Psg21 A T 7: 18,390,664 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scaf11 A T 15: 96,322,543 (GRCm39) N116K probably damaging Het
Sf3a3 T C 4: 124,617,177 (GRCm39) probably benign Homo
Slc38a9 T G 13: 112,831,801 (GRCm39) Y184D possibly damaging Het
Sowahc A G 10: 59,058,182 (GRCm39) D106G probably benign Het
Srbd1 T C 17: 86,406,696 (GRCm39) Y563C probably damaging Het
Src A G 2: 157,310,442 (GRCm39) Y359C probably damaging Het
Tbc1d9b A G 11: 50,026,673 (GRCm39) D47G probably damaging Het
Tctn3 T C 19: 40,585,923 (GRCm39) K541E possibly damaging Het
Tgm7 A G 2: 120,929,539 (GRCm39) V245A probably damaging Het
Thbs2 C T 17: 14,900,650 (GRCm39) R519H probably damaging Het
Tm4sf19 T C 16: 32,226,681 (GRCm39) S157P probably damaging Het
Trio C T 15: 27,818,157 (GRCm39) S507N probably damaging Het
Trrap T A 5: 144,718,791 (GRCm39) H152Q possibly damaging Het
Vmn2r56 A G 7: 12,427,947 (GRCm39) L773P probably damaging Het
Vmn2r70 A G 7: 85,215,189 (GRCm39) L115P probably benign Het
Wdr59 C T 8: 112,199,293 (GRCm39) R631H 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
R5648:Rhobtb2 UTSW 14 70,034,593 (GRCm39) missense probably damaging 1.00
R5990:Rhobtb2 UTSW 14 70,033,818 (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'- TGGAATACAGAACAAGACCGTC -3'
(R):5'- GAGCTTTCTGTGCCGCTAAC -3'

Sequencing Primer
(F):5'- GTGAATGAATGAATGAGCATGTTTG -3'
(R):5'- AGCTTTCTGTGCCGCTAACTTTTC -3'
Posted On 2017-10-10