Incidental Mutation 'IGL02071:Rbl2'
| ID |
185811 |
| 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 # |
IGL02071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91828826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 576
(V576I)
|
| 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: V619I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: V619I
| 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 damaging
Transcript: ENSMUST00000209518
AA Change: V609I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: V576I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,400,676 (GRCm39) |
R92C |
probably damaging |
Het |
| Adam29 |
C |
A |
8: 56,324,589 (GRCm39) |
V622L |
possibly damaging |
Het |
| Bzw2 |
T |
C |
12: 36,157,502 (GRCm39) |
H321R |
probably benign |
Het |
| C2cd2 |
C |
T |
16: 97,671,432 (GRCm39) |
R489Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,359,339 (GRCm39) |
T253I |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,638,608 (GRCm39) |
|
probably null |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,309 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,914 (GRCm39) |
L97P |
possibly damaging |
Het |
| Dpep2 |
A |
T |
8: 106,711,776 (GRCm39) |
H550Q |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,895,626 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,204,149 (GRCm39) |
|
probably null |
Het |
| Fxyd5 |
A |
G |
7: 30,739,613 (GRCm39) |
V32A |
possibly damaging |
Het |
| Itprid1 |
C |
A |
6: 55,944,710 (GRCm39) |
S477* |
probably null |
Het |
| Mak16 |
A |
T |
8: 31,650,557 (GRCm39) |
S251T |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,747 (GRCm39) |
V116A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,343 (GRCm39) |
R50* |
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,909,305 (GRCm39) |
P272L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,334,947 (GRCm39) |
V933E |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,783 (GRCm39) |
V749E |
probably damaging |
Het |
| Or51e2 |
A |
C |
7: 102,391,355 (GRCm39) |
V285G |
probably damaging |
Het |
| Or5al1 |
C |
A |
2: 85,990,219 (GRCm39) |
R165L |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,929,176 (GRCm39) |
Y417C |
probably damaging |
Het |
| Otop1 |
G |
A |
5: 38,445,327 (GRCm39) |
A162T |
probably damaging |
Het |
| Patl1 |
C |
A |
19: 11,917,054 (GRCm39) |
P634T |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,930,936 (GRCm39) |
S28T |
probably benign |
Het |
| Prkar2b |
C |
T |
12: 32,013,016 (GRCm39) |
G367R |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,899,559 (GRCm39) |
A53T |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,415,533 (GRCm39) |
I1860F |
possibly damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,475 (GRCm39) |
D877E |
probably damaging |
Het |
| Sectm1b |
C |
T |
11: 120,946,761 (GRCm39) |
V45I |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,763 (GRCm39) |
V741I |
probably benign |
Het |
| Sugt1 |
T |
A |
14: 79,847,723 (GRCm39) |
L191* |
probably null |
Het |
| Tcf21 |
A |
T |
10: 22,693,709 (GRCm39) |
V156E |
possibly damaging |
Het |
| Tep1 |
T |
A |
14: 51,071,506 (GRCm39) |
R2046S |
possibly damaging |
Het |
| Tmem181a |
T |
C |
17: 6,347,531 (GRCm39) |
F241S |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,138 (GRCm39) |
C296Y |
probably benign |
Het |
| Trim40 |
A |
G |
17: 37,200,070 (GRCm39) |
S3P |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,619,130 (GRCm39) |
Y266N |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,225,071 (GRCm39) |
N177S |
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 |
|
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 |
2014-05-07 |
Incidental Mutation