Incidental Mutation 'IGL01637:Rbl2'
| ID |
93056 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbl2
|
| Ensembl Gene |
ENSMUSG00000031666 |
| Gene Name |
RB transcriptional corepressor like 2 |
| Synonyms |
p130, Rb2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91070057-91123844 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91106438 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 666
(P666S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034091
AA Change: P709S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: P709S
| 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 |
noncoding transcript
Transcript: ENSMUST00000144190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209518
AA Change: P699S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: P666S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,904,684 (GRCm38) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,948,700 (GRCm38) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 62,937,286 (GRCm38) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,744,832 (GRCm38) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,756,455 (GRCm38) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,492,461 (GRCm38) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,759,917 (GRCm38) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,846,710 (GRCm38) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 16,205,473 (GRCm38) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 135,137,813 (GRCm38) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,354,613 (GRCm38) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,860,507 (GRCm38) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,650,525 (GRCm38) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm38) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,281,667 (GRCm38) |
M127L |
possibly damaging |
Het |
| Fam19a3 |
C |
T |
3: 104,773,079 (GRCm38) |
V75M |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,777,205 (GRCm38) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,189,825 (GRCm38) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,598,312 (GRCm38) |
N56S |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,150,409 (GRCm38) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,372,358 (GRCm38) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,623,606 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,967,633 (GRCm38) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,686,545 (GRCm38) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,267,733 (GRCm38) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,896,503 (GRCm38) |
I90F |
possibly damaging |
Het |
| Itga2b |
A |
G |
11: 102,455,583 (GRCm38) |
L1009P |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 93,039,853 (GRCm38) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,245,368 (GRCm38) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,375,679 (GRCm38) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,215,628 (GRCm38) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 29,839,871 (GRCm38) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,550,532 (GRCm38) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,840,629 (GRCm38) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,547,120 (GRCm38) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,549,378 (GRCm38) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,146,060 (GRCm38) |
T2013I |
probably damaging |
Het |
| Olfr1018 |
A |
T |
2: 85,822,988 (GRCm38) |
T6S |
probably benign |
Het |
| Olfr131 |
G |
A |
17: 38,082,103 (GRCm38) |
L292F |
possibly damaging |
Het |
| Olfr593 |
C |
A |
7: 103,212,177 (GRCm38) |
R95S |
probably benign |
Het |
| Olfr812 |
A |
G |
10: 129,842,610 (GRCm38) |
L144P |
probably benign |
Het |
| Olfr845 |
T |
C |
9: 19,338,964 (GRCm38) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,664,056 (GRCm38) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,540,034 (GRCm38) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,526,901 (GRCm38) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 70,772,348 (GRCm38) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,641,690 (GRCm38) |
F211L |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 108,058,238 (GRCm38) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,965,171 (GRCm38) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,132,957 (GRCm38) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,148,513 (GRCm38) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 105,960,707 (GRCm38) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 98,041,354 (GRCm38) |
E241G |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,737,629 (GRCm38) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,370,085 (GRCm38) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,674,191 (GRCm38) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 46,956,654 (GRCm38) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,139,900 (GRCm38) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm38) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,919,064 (GRCm38) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,702,948 (GRCm38) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,645,736 (GRCm38) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,646 (GRCm38) |
H676R |
probably benign |
Het |
|
| Other mutations in Rbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Rbl2
|
APN |
8 |
91,085,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01084:Rbl2
|
APN |
8 |
91,122,313 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01317:Rbl2
|
APN |
8 |
91,100,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01843:Rbl2
|
APN |
8 |
91,090,216 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL01884:Rbl2
|
APN |
8 |
91,096,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02071:Rbl2
|
APN |
8 |
91,102,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02588:Rbl2
|
APN |
8 |
91,087,084 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03027:Rbl2
|
APN |
8 |
91,078,906 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03162:Rbl2
|
APN |
8 |
91,085,702 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03200:Rbl2
|
APN |
8 |
91,096,767 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0165:Rbl2
|
UTSW |
8 |
91,074,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0238:Rbl2
|
UTSW |
8 |
91,106,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0238:Rbl2
|
UTSW |
8 |
91,106,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0317:Rbl2
|
UTSW |
8 |
91,087,144 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0539:Rbl2
|
UTSW |
8 |
91,112,505 (GRCm38) |
splice site |
probably benign |
|
|
R1532:Rbl2
|
UTSW |
8 |
91,106,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1696:Rbl2
|
UTSW |
8 |
91,085,724 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1852:Rbl2
|
UTSW |
8 |
91,095,563 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1866:Rbl2
|
UTSW |
8 |
91,112,529 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1975:Rbl2
|
UTSW |
8 |
91,085,462 (GRCm38) |
missense |
probably benign |
|
|
R2062:Rbl2
|
UTSW |
8 |
91,106,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2180:Rbl2
|
UTSW |
8 |
91,090,055 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2423:Rbl2
|
UTSW |
8 |
91,087,146 (GRCm38) |
missense |
probably benign |
0.34 |
|
R3109:Rbl2
|
UTSW |
8 |
91,102,235 (GRCm38) |
missense |
probably benign |
|
|
R4356:Rbl2
|
UTSW |
8 |
91,107,107 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4692:Rbl2
|
UTSW |
8 |
91,122,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Rbl2
|
UTSW |
8 |
91,085,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4784:Rbl2
|
UTSW |
8 |
91,085,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5084:Rbl2
|
UTSW |
8 |
91,115,131 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5432:Rbl2
|
UTSW |
8 |
91,102,283 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5493:Rbl2
|
UTSW |
8 |
91,115,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Rbl2
|
UTSW |
8 |
91,078,932 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5918:Rbl2
|
UTSW |
8 |
91,090,130 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6186:Rbl2
|
UTSW |
8 |
91,106,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6257:Rbl2
|
UTSW |
8 |
91,115,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6526:Rbl2
|
UTSW |
8 |
91,096,839 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6546:Rbl2
|
UTSW |
8 |
91,070,370 (GRCm38) |
missense |
probably benign |
|
|
R6714:Rbl2
|
UTSW |
8 |
91,106,787 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7214:Rbl2
|
UTSW |
8 |
91,083,429 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7286:Rbl2
|
UTSW |
8 |
91,102,294 (GRCm38) |
nonsense |
probably null |
|
|
R7290:Rbl2
|
UTSW |
8 |
91,115,041 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7315:Rbl2
|
UTSW |
8 |
91,076,012 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7524:Rbl2
|
UTSW |
8 |
91,115,193 (GRCm38) |
missense |
probably benign |
|
|
R8060:Rbl2
|
UTSW |
8 |
91,096,869 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8071:Rbl2
|
UTSW |
8 |
91,113,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8154:Rbl2
|
UTSW |
8 |
91,107,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8302:Rbl2
|
UTSW |
8 |
91,085,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Rbl2
|
UTSW |
8 |
91,115,759 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8724:Rbl2
|
UTSW |
8 |
91,115,209 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8822:Rbl2
|
UTSW |
8 |
91,106,718 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9186:Rbl2
|
UTSW |
8 |
91,101,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9729:Rbl2
|
UTSW |
8 |
91,078,899 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9801:Rbl2
|
UTSW |
8 |
91,095,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0023:Rbl2
|
UTSW |
8 |
91,090,079 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-12-09 |
Incidental Mutation