Incidental Mutation 'R8026:Rhobtb2'
ID 617734
Institutional Source Beutler Lab
Gene Symbol Rhobtb2
Ensembl Gene ENSMUSG00000022075
Gene Name Rho-related BTB domain containing 2
Synonyms E130206H14Rik, Dbc2
MMRRC Submission 067465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8026 (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 G at 70034214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 337 (D337A)
Ref Sequence ENSEMBL: ENSMUSP00000022665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022665]
AlphaFold Q91V93
Predicted Effect probably benign
Transcript: ENSMUST00000022665
AA Change: D337A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: D337A

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
Meta Mutation Damage Score 0.3706 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,611,723 (GRCm39) V513A probably damaging Het
Acsf2 C T 11: 94,453,714 (GRCm39) V416M probably damaging Het
Adrm1 G A 2: 179,817,002 (GRCm39) A225T unknown Het
Aldh9a1 T C 1: 167,180,236 (GRCm39) probably null Het
Apbb2 T C 5: 66,608,987 (GRCm39) D220G probably benign Het
Bace2 T C 16: 97,238,052 (GRCm39) V501A probably benign Het
Camsap1 T C 2: 25,828,214 (GRCm39) N1170S probably benign Het
Casr A G 16: 36,315,979 (GRCm39) V697A probably damaging Het
Clcn1 T C 6: 42,284,595 (GRCm39) probably null Het
Cobl T C 11: 12,203,459 (GRCm39) K1081R probably benign Het
Ctr9 T A 7: 110,633,099 (GRCm39) L116I probably damaging Het
Dennd4a T C 9: 64,780,312 (GRCm39) F616S probably damaging Het
Dynlt1a C T 17: 6,362,089 (GRCm39) G30S possibly damaging Het
Eif1 T C 11: 100,211,274 (GRCm39) S23P possibly damaging Het
Eml6 A C 11: 29,699,973 (GRCm39) L1721R possibly damaging Het
Fscb A G 12: 64,521,049 (GRCm39) I139T probably benign Het
Fstl4 A G 11: 52,959,496 (GRCm39) E179G probably damaging Het
Fuom T C 7: 139,680,067 (GRCm39) T95A Het
Gigyf1 C T 5: 137,523,740 (GRCm39) H1001Y probably damaging Het
Gm21886 T A 18: 80,132,961 (GRCm39) S66C probably damaging Het
Helz2 G A 2: 180,881,998 (GRCm39) T265I probably benign Het
Hs6st3 G T 14: 120,106,968 (GRCm39) V459F probably damaging Het
Ido2 A G 8: 25,025,156 (GRCm39) probably null Het
Idua A G 5: 108,818,115 (GRCm39) I96V probably benign Het
Iftap A T 2: 101,400,989 (GRCm39) probably benign Het
Inpp5j A G 11: 3,445,171 (GRCm39) S494P Het
Krt19 A G 11: 100,032,209 (GRCm39) V285A probably damaging Het
Krt71 T G 15: 101,646,817 (GRCm39) D297A possibly damaging Het
L3hypdh G A 12: 72,131,723 (GRCm39) R70C probably damaging Het
Masp1 T C 16: 23,303,156 (GRCm39) Y324C probably damaging Het
Mfap2 A G 4: 140,741,114 (GRCm39) D25G possibly damaging Het
Mmp17 G A 5: 129,672,148 (GRCm39) probably null Het
Mroh7 G A 4: 106,578,634 (GRCm39) P15S probably benign Het
Muc5b T A 7: 141,417,373 (GRCm39) C3440S probably benign Het
Naip5 C A 13: 100,382,406 (GRCm39) S101I probably damaging Het
Neb A T 2: 52,113,060 (GRCm39) Y1066N Het
Nop56 T A 2: 130,119,188 (GRCm39) C38S probably benign Het
Nup214 T A 2: 31,923,362 (GRCm39) L1297Q possibly damaging Het
Oasl2 C A 5: 115,040,329 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,132 (GRCm39) F175L probably damaging Het
Or4c58 T C 2: 89,675,273 (GRCm39) N15D probably benign Het
Or51b4 A G 7: 103,530,904 (GRCm39) V182A possibly damaging Het
Or52a5 T A 7: 103,427,547 (GRCm39) I2F probably benign Het
Or5h24 T C 16: 58,918,731 (GRCm39) H208R unknown Het
Or8g4 T C 9: 39,662,092 (GRCm39) S137P possibly damaging Het
Pacrg C T 17: 10,795,496 (GRCm39) V155I probably benign Het
Patz1 A T 11: 3,257,658 (GRCm39) M96L probably benign Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Ptprr A G 10: 115,884,075 (GRCm39) Y44C probably damaging Het
Rad51ap1 A G 6: 126,911,675 (GRCm39) probably null Het
Raet1e A C 10: 22,057,198 (GRCm39) D174A probably damaging Het
Sbf2 T C 7: 109,934,594 (GRCm39) K1377E probably damaging Het
Sh3pxd2b A G 11: 32,361,567 (GRCm39) K260E probably damaging Het
Slc4a8 A T 15: 100,685,170 (GRCm39) I234F possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tbxas1 C T 6: 39,004,830 (GRCm39) T359I probably benign Het
Trim9 T A 12: 70,337,161 (GRCm39) S309C probably benign Het
Ttn G A 2: 76,659,483 (GRCm39) P12191S unknown Het
Unc80 A G 1: 66,522,463 (GRCm39) R222G possibly damaging Het
Vmn1r202 A T 13: 22,686,314 (GRCm39) H34Q possibly damaging Het
Vmn2r61 T A 7: 41,916,141 (GRCm39) N251K probably benign Het
Vmn2r67 A T 7: 84,785,924 (GRCm39) Y694N probably damaging Het
Vwde A G 6: 13,205,782 (GRCm39) F255S probably benign Het
Zfp532 T G 18: 65,758,227 (GRCm39) I720R possibly damaging Het
Zfp819 A G 7: 43,267,319 (GRCm39) T601A probably benign Het
Zfp853 G T 5: 143,274,280 (GRCm39) Q462K unknown 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
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
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'- CCGGGATTTGAAGGTCAGAG -3'
(R):5'- GCGCATCTTTGCCCACAAAATC -3'

Sequencing Primer
(F):5'- ATTTGAAGGTCAGAGGATCCTC -3'
(R):5'- GCATCTTTGCCCACAAAATCTACCTC -3'
Posted On 2020-01-23