Incidental Mutation 'IGL00832:Rbl2'
| ID |
13777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbl2
|
| Ensembl Gene |
ENSMUSG00000031666 |
| Gene Name |
RB transcriptional corepressor like 2 |
| Synonyms |
p130, Rb2, retinoblastoma-like 2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91812073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 214
(D214G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034091
AA Change: D257G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: D257G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
CYCLIN
|
44 |
131 |
5.81e-1 |
SMART |
|
DUF3452
|
94 |
236 |
2.36e-77 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
RB_A
|
414 |
606 |
3.42e-106 |
SMART |
|
low complexity region
|
722 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
CYCLIN
|
845 |
1008 |
2.86e-6 |
SMART |
|
Rb_C
|
1019 |
1135 |
5.42e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209518
AA Change: D257G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: D214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Nullizygous mice generally show no overt phenotype. Homozygotes for a null allele show strain-dependent embryonic lethality and growth arrest associated with altered apoptosis and cell proliferation, impaired neurogenesis and myogenesis, failed embryo turning and heart looping, and thin myocardium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
| Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
| Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
| Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
| E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
| Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
| Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
| Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
| Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in Rbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Rbl2
|
APN |
8 |
91,848,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01317:Rbl2
|
APN |
8 |
91,826,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Rbl2
|
APN |
8 |
91,833,066 (GRCm39) |
missense |
probably benign |
|
|
IGL01843:Rbl2
|
APN |
8 |
91,816,844 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01884:Rbl2
|
APN |
8 |
91,823,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Rbl2
|
APN |
8 |
91,828,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Rbl2
|
APN |
8 |
91,813,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03027:Rbl2
|
APN |
8 |
91,805,534 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03162:Rbl2
|
APN |
8 |
91,812,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03200:Rbl2
|
APN |
8 |
91,823,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0165:Rbl2
|
UTSW |
8 |
91,800,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0317:Rbl2
|
UTSW |
8 |
91,813,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Rbl2
|
UTSW |
8 |
91,839,133 (GRCm39) |
splice site |
probably benign |
|
|
R1532:Rbl2
|
UTSW |
8 |
91,833,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1696:Rbl2
|
UTSW |
8 |
91,812,352 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1852:Rbl2
|
UTSW |
8 |
91,822,191 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1866:Rbl2
|
UTSW |
8 |
91,839,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1975:Rbl2
|
UTSW |
8 |
91,812,090 (GRCm39) |
missense |
probably benign |
|
|
R2062:Rbl2
|
UTSW |
8 |
91,833,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Rbl2
|
UTSW |
8 |
91,816,683 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2423:Rbl2
|
UTSW |
8 |
91,813,774 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3109:Rbl2
|
UTSW |
8 |
91,828,863 (GRCm39) |
missense |
probably benign |
|
|
R4356:Rbl2
|
UTSW |
8 |
91,833,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4692:Rbl2
|
UTSW |
8 |
91,849,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Rbl2
|
UTSW |
8 |
91,841,759 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5432:Rbl2
|
UTSW |
8 |
91,828,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5493:Rbl2
|
UTSW |
8 |
91,842,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Rbl2
|
UTSW |
8 |
91,805,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5918:Rbl2
|
UTSW |
8 |
91,816,758 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6186:Rbl2
|
UTSW |
8 |
91,833,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Rbl2
|
UTSW |
8 |
91,842,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Rbl2
|
UTSW |
8 |
91,823,467 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6546:Rbl2
|
UTSW |
8 |
91,796,998 (GRCm39) |
missense |
probably benign |
|
|
R6714:Rbl2
|
UTSW |
8 |
91,833,415 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7214:Rbl2
|
UTSW |
8 |
91,810,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Rbl2
|
UTSW |
8 |
91,828,922 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Rbl2
|
UTSW |
8 |
91,841,669 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7315:Rbl2
|
UTSW |
8 |
91,802,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7524:Rbl2
|
UTSW |
8 |
91,841,821 (GRCm39) |
missense |
probably benign |
|
|
R8060:Rbl2
|
UTSW |
8 |
91,823,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8071:Rbl2
|
UTSW |
8 |
91,840,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Rbl2
|
UTSW |
8 |
91,833,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Rbl2
|
UTSW |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Rbl2
|
UTSW |
8 |
91,842,387 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8724:Rbl2
|
UTSW |
8 |
91,841,837 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8822:Rbl2
|
UTSW |
8 |
91,833,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9186:Rbl2
|
UTSW |
8 |
91,828,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Rbl2
|
UTSW |
8 |
91,805,527 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9801:Rbl2
|
UTSW |
8 |
91,822,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Rbl2
|
UTSW |
8 |
91,816,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-12-06 |
Incidental Mutation