Incidental Mutation 'IGL02588:Rbl2'
| ID |
299630 |
| 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 # |
IGL02588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91813712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 319
(L319Q)
|
| 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: L362Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: L362Q
| 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: L362Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: L319Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
| Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
A |
G |
11: 120,568,357 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
| Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
| Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
| Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
| Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,239,609 (GRCm39) |
|
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
| Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
| Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,747 (GRCm39) |
L654* |
probably null |
Het |
| Ppp4r3b |
G |
T |
11: 29,148,853 (GRCm39) |
G25* |
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,167,361 (GRCm39) |
V1034A |
probably benign |
Het |
| Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
| Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
| Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
| Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
| Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
| Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
Het |
|
| Other mutations in Rbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Rbl2
|
APN |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation