Incidental Mutation 'R6526:Rbl2'
ID |
521874 |
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 |
044652-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6526 (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 T
at 91823467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 465
(Q465L)
|
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: Q508L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034091 Gene: ENSMUSG00000031666 AA Change: Q508L
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: ENSMUST00000209518
AA Change: Q498L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: Q465L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0863 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.5%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,331 (GRCm39) |
|
probably null |
Het |
Abcc3 |
C |
T |
11: 94,250,198 (GRCm39) |
G975D |
probably benign |
Het |
Abhd13 |
G |
A |
8: 10,037,777 (GRCm39) |
G125S |
probably damaging |
Het |
Ache |
T |
A |
5: 137,288,906 (GRCm39) |
L204Q |
probably damaging |
Het |
Acnat2 |
A |
G |
4: 49,383,497 (GRCm39) |
S19P |
probably benign |
Het |
Adprh |
A |
G |
16: 38,267,638 (GRCm39) |
Y216H |
probably benign |
Het |
Anapc1 |
T |
A |
2: 128,514,055 (GRCm39) |
K429* |
probably null |
Het |
Anxa13 |
T |
C |
15: 58,208,353 (GRCm39) |
|
noncoding transcript |
Het |
Aprt |
A |
C |
8: 123,303,555 (GRCm39) |
L6W |
probably damaging |
Het |
Arhgef15 |
T |
C |
11: 68,840,820 (GRCm39) |
T569A |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,914,999 (GRCm39) |
L1139P |
probably benign |
Het |
Atp2b4 |
A |
G |
1: 133,639,467 (GRCm39) |
S1136P |
probably damaging |
Het |
B9d1 |
T |
A |
11: 61,399,923 (GRCm39) |
Y90* |
probably null |
Het |
Btla |
G |
A |
16: 45,059,457 (GRCm39) |
A54T |
probably damaging |
Het |
Cd63 |
T |
C |
10: 128,747,358 (GRCm39) |
V35A |
probably benign |
Het |
Chek2 |
T |
C |
5: 110,996,556 (GRCm39) |
F173L |
probably damaging |
Het |
Cntnap3 |
T |
A |
13: 64,929,702 (GRCm39) |
N499I |
possibly damaging |
Het |
Cog4 |
T |
C |
8: 111,608,418 (GRCm39) |
L738P |
probably damaging |
Het |
Cops6 |
T |
C |
5: 138,162,162 (GRCm39) |
|
probably null |
Het |
Cpeb1 |
T |
A |
7: 81,011,417 (GRCm39) |
I175F |
probably benign |
Het |
Cyp3a16 |
C |
T |
5: 145,392,705 (GRCm39) |
D174N |
probably benign |
Het |
Dnah6 |
T |
G |
6: 73,051,687 (GRCm39) |
I2984L |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,564,068 (GRCm39) |
I540N |
probably damaging |
Het |
Elf5 |
A |
G |
2: 103,269,578 (GRCm39) |
Y53C |
probably damaging |
Het |
Elmod2 |
T |
C |
8: 84,046,086 (GRCm39) |
T164A |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,798,812 (GRCm39) |
|
probably null |
Het |
Epn3 |
A |
G |
11: 94,385,758 (GRCm39) |
|
probably null |
Het |
Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
Gm11115 |
T |
A |
5: 88,301,909 (GRCm39) |
|
probably null |
Het |
Golga3 |
T |
A |
5: 110,352,761 (GRCm39) |
I884N |
probably damaging |
Het |
Gria2 |
A |
T |
3: 80,599,776 (GRCm39) |
F703I |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Gtpbp2 |
A |
T |
17: 46,475,037 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,807,078 (GRCm39) |
S2419P |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,603,972 (GRCm39) |
|
probably benign |
Het |
Kdm2b |
C |
A |
5: 123,099,532 (GRCm39) |
V136F |
probably damaging |
Het |
Klra2 |
T |
A |
6: 131,198,839 (GRCm39) |
D234V |
probably benign |
Het |
Lct |
A |
T |
1: 128,228,215 (GRCm39) |
S1093T |
probably benign |
Het |
Marchf9 |
A |
G |
10: 126,892,558 (GRCm39) |
L310P |
probably benign |
Het |
Morc1 |
G |
T |
16: 48,407,487 (GRCm39) |
E668* |
probably null |
Het |
Nbas |
A |
T |
12: 13,455,426 (GRCm39) |
L1213F |
probably damaging |
Het |
Neto1 |
A |
G |
18: 86,516,873 (GRCm39) |
T397A |
possibly damaging |
Het |
Oit3 |
A |
G |
10: 59,265,462 (GRCm39) |
C268R |
probably damaging |
Het |
Or5p55 |
A |
G |
7: 107,566,669 (GRCm39) |
T22A |
probably benign |
Het |
Pcx |
T |
C |
19: 4,654,523 (GRCm39) |
F312L |
probably benign |
Het |
Pitx2 |
T |
C |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
G |
A |
15: 44,361,485 (GRCm39) |
|
probably null |
Het |
Polr1a |
C |
A |
6: 71,906,427 (GRCm39) |
D414E |
possibly damaging |
Het |
Pramel27 |
A |
G |
4: 143,579,384 (GRCm39) |
D323G |
probably damaging |
Het |
Prkch |
T |
C |
12: 73,749,549 (GRCm39) |
Y381H |
probably damaging |
Het |
Ptger3 |
T |
A |
3: 157,273,139 (GRCm39) |
V162E |
probably damaging |
Het |
Ptgr2 |
T |
G |
12: 84,360,726 (GRCm39) |
M332R |
probably damaging |
Het |
Ptprq |
G |
T |
10: 107,378,514 (GRCm39) |
S2009* |
probably null |
Het |
Pwwp3a |
A |
G |
10: 80,068,113 (GRCm39) |
T86A |
probably benign |
Het |
Rangrf |
C |
T |
11: 68,864,514 (GRCm39) |
G11R |
probably damaging |
Het |
Rhbdd1 |
A |
T |
1: 82,318,380 (GRCm39) |
M88L |
probably benign |
Het |
Setd2 |
G |
A |
9: 110,361,785 (GRCm39) |
M13I |
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,444,080 (GRCm39) |
Y384C |
probably damaging |
Het |
Slc13a1 |
C |
T |
6: 24,097,611 (GRCm39) |
G439S |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,768,887 (GRCm39) |
I239N |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,461,509 (GRCm39) |
C1502S |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,552,119 (GRCm39) |
E888K |
probably benign |
Het |
Srrm3 |
G |
T |
5: 135,864,088 (GRCm39) |
R62L |
probably damaging |
Het |
Synm |
A |
G |
7: 67,385,331 (GRCm39) |
V777A |
possibly damaging |
Het |
Trmt13 |
T |
A |
3: 116,385,864 (GRCm39) |
N31I |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,289,720 (GRCm39) |
E893K |
probably damaging |
Het |
Uqcc1 |
A |
G |
2: 155,693,343 (GRCm39) |
F197S |
probably damaging |
Het |
Vmn1r67 |
T |
A |
7: 10,181,598 (GRCm39) |
N287K |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,381,098 (GRCm39) |
M265K |
probably benign |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xdh |
C |
A |
17: 74,207,546 (GRCm39) |
C937F |
probably damaging |
Het |
Zfp846 |
T |
A |
9: 20,505,167 (GRCm39) |
N342K |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTAACATGAAAGACCTGGAGC -3'
(R):5'- AGGGCTCCACTACACAGTTC -3'
Sequencing Primer
(F):5'- GAAATGGCTTTTCTTCCAGAGGACC -3'
(R):5'- ATTCCTAAGGTGCACACC -3'
|
Posted On |
2018-06-06 |