Incidental Mutation 'R8154:Rbl2'
| ID |
633208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbl2
|
| Ensembl Gene |
ENSMUSG00000031666 |
| Gene Name |
RB transcriptional corepressor like 2 |
| Synonyms |
p130, Rb2, retinoblastoma-like 2 |
| MMRRC Submission |
067580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91833825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 885
(D885G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000120426]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034091
AA Change: D885G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: D885G
| 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 benign
Transcript: ENSMUST00000120426
|
| SMART Domains |
Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209518
AA Change: D875G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: D842G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
T |
3: 122,718,142 (GRCm39) |
G12C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,424 (GRCm39) |
I600N |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,756,902 (GRCm39) |
P357T |
probably damaging |
Het |
| Bmyc |
T |
A |
2: 25,597,346 (GRCm39) |
S137T |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,987,654 (GRCm39) |
M168K |
possibly damaging |
Het |
| Card11 |
T |
G |
5: 140,886,732 (GRCm39) |
K339T |
probably damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,542,446 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,896 (GRCm39) |
S193P |
probably benign |
Het |
| Cracd |
A |
T |
5: 76,989,644 (GRCm39) |
E62D |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,224,642 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,434 (GRCm39) |
E576G |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,493 (GRCm39) |
N238S |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,517,740 (GRCm39) |
T375K |
possibly damaging |
Het |
| Espnl |
C |
T |
1: 91,252,921 (GRCm39) |
H217Y |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,507 (GRCm39) |
D189G |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,619 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gtf2i |
A |
T |
5: 134,280,721 (GRCm39) |
F583L |
probably benign |
Het |
| Heatr9 |
T |
A |
11: 83,402,703 (GRCm39) |
Y532F |
possibly damaging |
Het |
| Hic2 |
C |
T |
16: 17,076,344 (GRCm39) |
S391L |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,656,652 (GRCm39) |
V905A |
probably damaging |
Het |
| Inpp5f |
T |
G |
7: 128,265,991 (GRCm39) |
W211G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,412,802 (GRCm39) |
L382P |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,822 (GRCm39) |
Y1123F |
possibly damaging |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lmod3 |
T |
A |
6: 97,224,941 (GRCm39) |
K293N |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,269,195 (GRCm39) |
S473P |
possibly damaging |
Het |
| Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
| Map4k4 |
T |
G |
1: 40,060,302 (GRCm39) |
Y1030* |
probably null |
Het |
| Miga1 |
A |
G |
3: 152,026,337 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
T |
C |
17: 13,130,608 (GRCm39) |
E167G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,144,200 (GRCm39) |
E1190G |
probably damaging |
Het |
| Ngef |
C |
T |
1: 87,468,482 (GRCm39) |
M92I |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,752,904 (GRCm39) |
Y493F |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,763 (GRCm39) |
C213G |
probably benign |
Het |
| Otud7a |
C |
A |
7: 63,407,612 (GRCm39) |
F638L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,651,620 (GRCm39) |
|
probably null |
Het |
| Pcdhgb1 |
A |
G |
18: 37,815,596 (GRCm39) |
I696V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,304,948 (GRCm39) |
F1745S |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,108,689 (GRCm39) |
A1637V |
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,004,936 (GRCm39) |
M57L |
possibly damaging |
Het |
| Rbm25 |
A |
G |
12: 83,691,205 (GRCm39) |
M47V |
unknown |
Het |
| Rd3l |
T |
A |
12: 111,946,638 (GRCm39) |
H46L |
probably benign |
Het |
| Scn5a |
C |
G |
9: 119,391,611 (GRCm39) |
R27P |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,959,100 (GRCm39) |
V99D |
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,875,696 (GRCm39) |
I138F |
probably damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,596 (GRCm39) |
S137T |
possibly damaging |
Het |
| Smg8 |
A |
T |
11: 86,976,063 (GRCm39) |
M506K |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 139,014,938 (GRCm39) |
V368M |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,284,999 (GRCm39) |
V25A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,036,793 (GRCm39) |
K360E |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,017 (GRCm39) |
H1419Q |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,802,366 (GRCm39) |
F94L |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,946 (GRCm39) |
L201P |
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,391 (GRCm39) |
R1499W |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,157 (GRCm39) |
L589Q |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAACTTTGAACAGGGTTTG -3'
(R):5'- TTCTCAGGGCAGAAACTCCCTC -3'
Sequencing Primer
(F):5'- AACTTTGAACAGGGTTTGAAATATTC -3'
(R):5'- ATGGAAGCCTGTGTCTACAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation