Incidental Mutation 'R1532:Rbl2'
| ID |
166660 |
| 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 |
039571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1532 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91833045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 659
(A659T)
|
| 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: A702T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: A702T
| 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: A692T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: A659T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,166,302 (GRCm39) |
H394N |
probably benign |
Het |
| Ahrr |
A |
G |
13: 74,361,826 (GRCm39) |
S558P |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,499,919 (GRCm39) |
N1184S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,476,696 (GRCm39) |
C14* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,736,718 (GRCm39) |
D187G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,337 (GRCm39) |
T363A |
probably benign |
Het |
| Atxn1 |
A |
T |
13: 45,720,386 (GRCm39) |
L503Q |
possibly damaging |
Het |
| Babam1 |
A |
G |
8: 71,852,277 (GRCm39) |
D155G |
possibly damaging |
Het |
| Bbs9 |
A |
G |
9: 22,798,945 (GRCm39) |
T858A |
probably benign |
Het |
| Cacna1g |
C |
A |
11: 94,334,157 (GRCm39) |
G828V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,380,405 (GRCm39) |
T392A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,289,689 (GRCm39) |
V469A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,150,110 (GRCm39) |
N2576K |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,396,705 (GRCm39) |
Y18H |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,750,311 (GRCm39) |
K238N |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,014 (GRCm39) |
I880T |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,292,472 (GRCm39) |
C3237F |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,771,171 (GRCm39) |
M519V |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,350,753 (GRCm39) |
C106S |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
C |
8: 120,304,162 (GRCm39) |
F67L |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,175,204 (GRCm39) |
L1334R |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,152,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,742,256 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
A |
G |
2: 150,600,670 (GRCm39) |
Q126R |
probably benign |
Het |
| Entpd7 |
C |
G |
19: 43,679,516 (GRCm39) |
P23R |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,366,541 (GRCm39) |
I970V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,861,855 (GRCm39) |
H2163L |
probably damaging |
Het |
| Gse1 |
C |
G |
8: 121,294,949 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,999,301 (GRCm39) |
V300A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,214 (GRCm39) |
D259V |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,645,673 (GRCm39) |
S453P |
probably damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,652 (GRCm39) |
T163A |
probably benign |
Het |
| Igbp1b |
T |
A |
6: 138,635,442 (GRCm39) |
M1L |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,781,456 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,655,238 (GRCm39) |
Q249* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,492,833 (GRCm39) |
D153G |
probably null |
Het |
| Mllt10 |
G |
A |
2: 18,097,646 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
T |
4: 118,305,765 (GRCm39) |
G420E |
possibly damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,230,557 (GRCm39) |
T215S |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,994,656 (GRCm39) |
Q1179* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,733 (GRCm39) |
H278R |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,983 (GRCm39) |
I136V |
probably benign |
Het |
| Or52e18 |
T |
C |
7: 104,609,472 (GRCm39) |
I156V |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,639 (GRCm39) |
Y288C |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,934,771 (GRCm39) |
V353M |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,248,817 (GRCm39) |
M589K |
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,144,969 (GRCm39) |
G859V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,625 (GRCm39) |
T3561I |
probably benign |
Het |
| Prss46 |
G |
A |
9: 110,679,236 (GRCm39) |
V146I |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,461,626 (GRCm39) |
V1139M |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,500,963 (GRCm39) |
L396P |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Rdm1 |
T |
C |
11: 101,524,643 (GRCm39) |
L192P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,239,742 (GRCm39) |
W842G |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,881,420 (GRCm39) |
K509R |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,713,396 (GRCm39) |
I377N |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,040,483 (GRCm39) |
G269D |
probably damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,971,920 (GRCm39) |
T115A |
probably benign |
Het |
| Slc5a12 |
T |
G |
2: 110,440,483 (GRCm39) |
N157K |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,234,924 (GRCm39) |
V1634A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,074,919 (GRCm39) |
S2382P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,084,194 (GRCm39) |
S1100R |
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,130,901 (GRCm39) |
T180A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,804 (GRCm39) |
V2846A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,293,751 (GRCm39) |
I915K |
probably damaging |
Het |
| Uba1y |
C |
T |
Y: 828,862 (GRCm39) |
H557Y |
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,827,700 (GRCm39) |
D730E |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,605,011 (GRCm39) |
L734Q |
probably damaging |
Het |
| Vmn1r167 |
G |
T |
7: 23,204,204 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,454 (GRCm39) |
V282A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,283 (GRCm39) |
K2175E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAAAGCCTTGCTTCATTTACGG -3'
(R):5'- TGACAAGTGTCAGAGAACGCAATCC -3'
Sequencing Primer
(F):5'- ATATGGGTGGACCACGACTTC -3'
(R):5'- GAGAACGCAATCCCTAACTCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation