Incidental Mutation 'R8704:Rhobtb2'
| ID |
669207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb2
|
| Ensembl Gene |
ENSMUSG00000022075 |
| Gene Name |
Rho-related BTB domain containing 2 |
| Synonyms |
E130206H14Rik, Dbc2 |
| MMRRC Submission |
068558-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70022439-70043085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70031373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 584
(P584L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022665]
|
| AlphaFold |
Q91V93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022665
AA Change: P584L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: P584L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
| Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
| Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
| Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
| Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
| Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
| Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
| Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
| Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
| Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
| Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
| Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
| Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
| Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
| Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
| Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
| Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
probably damaging |
Het |
|
| Other mutations in Rhobtb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- AATGCACATCGTCTTGCCTC -3'
(R):5'- TGGACTTCATGCCACTTGCC -3'
Sequencing Primer
(F):5'- TCCTGGATCTCGAGTTACAGACG -3'
(R):5'- ATGCCACTTGCCTGCTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation