Incidental Mutation 'R5084:Rbl2'
| ID |
387312 |
| 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 |
042673-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91841759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 942
(T942M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000120426]
[ENSMUST00000211136]
[ENSMUST00000209518]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034091
AA Change: T985M
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: T985M
| 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 |
noncoding transcript
Transcript: ENSMUST00000126689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: T942M
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209518
AA Change: T975M
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210728
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,204,116 (GRCm39) |
E59D |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,155,640 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
A |
7: 79,476,618 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
A |
9: 105,274,886 (GRCm39) |
Y314* |
probably null |
Het |
| Ccdc183 |
G |
A |
2: 25,498,802 (GRCm39) |
T497I |
probably damaging |
Het |
| Cd4 |
A |
T |
6: 124,847,402 (GRCm39) |
I254N |
probably damaging |
Het |
| Crot |
G |
T |
5: 9,019,994 (GRCm39) |
H449Q |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,418,214 (GRCm39) |
W164R |
possibly damaging |
Het |
| Dapk3 |
C |
A |
10: 81,026,152 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
G |
A |
5: 110,527,272 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
C |
3: 93,184,922 (GRCm39) |
F15L |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,252,686 (GRCm39) |
D51G |
probably damaging |
Het |
| H2-Ob |
G |
T |
17: 34,460,102 (GRCm39) |
G71V |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,161,520 (GRCm39) |
V104A |
possibly damaging |
Het |
| Hs3st4 |
G |
T |
7: 123,996,518 (GRCm39) |
D395Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Ldlrad3 |
G |
A |
2: 101,900,329 (GRCm39) |
R58C |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,626,983 (GRCm39) |
S188P |
probably damaging |
Het |
| Mamdc2 |
G |
T |
19: 23,336,516 (GRCm39) |
T331K |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,715,135 (GRCm39) |
S195N |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,577,176 (GRCm39) |
Y390H |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,376,864 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
C |
3: 114,698,202 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
G |
4: 118,686,767 (GRCm39) |
V290A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,594 (GRCm39) |
L249P |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,436 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,551 (GRCm39) |
I228F |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,819 (GRCm39) |
V527A |
probably benign |
Het |
| Pcdha6 |
A |
T |
18: 37,102,016 (GRCm39) |
N403I |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,710,848 (GRCm39) |
E1458G |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,610,569 (GRCm39) |
T386M |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,004 (GRCm39) |
M272V |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,571 (GRCm39) |
E163G |
probably damaging |
Het |
| Plk5 |
C |
A |
10: 80,194,723 (GRCm39) |
R149S |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,933 (GRCm39) |
Y292F |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,860,332 (GRCm39) |
K272E |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,572,059 (GRCm39) |
L777P |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,185 (GRCm39) |
Y438H |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,887,673 (GRCm39) |
K2052R |
probably benign |
Het |
| Spata31d1c |
C |
A |
13: 65,182,944 (GRCm39) |
P162Q |
probably damaging |
Het |
| Spmip9 |
A |
G |
6: 70,892,688 (GRCm39) |
S20P |
possibly damaging |
Het |
| Ston1 |
A |
T |
17: 88,944,002 (GRCm39) |
E469D |
probably benign |
Het |
| Syde2 |
AGTTC |
AGTTCGTTC |
3: 145,707,164 (GRCm39) |
|
probably null |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Taar5 |
T |
A |
10: 23,846,836 (GRCm39) |
L78Q |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,251 (GRCm39) |
L259* |
probably null |
Het |
| Topaz1 |
T |
A |
9: 122,577,883 (GRCm39) |
H264Q |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,059,027 (GRCm39) |
V548L |
possibly damaging |
Het |
| Vmn2r57 |
C |
A |
7: 41,075,974 (GRCm39) |
|
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,439 (GRCm39) |
*861W |
probably null |
Het |
| Ylpm1 |
T |
G |
12: 85,076,095 (GRCm39) |
V940G |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,627,556 (GRCm39) |
S1500P |
probably damaging |
Het |
| Zfp384 |
G |
T |
6: 125,000,642 (GRCm39) |
|
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,953 (GRCm39) |
M662V |
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 |
|
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'- AAGAATCAAAGTGCCTGCTTACTG -3'
(R):5'- GGAAAACCTCAAGTGATTCCTCC -3'
Sequencing Primer
(F):5'- CCCCTGATGACGAGTGCTTTATAGAG -3'
(R):5'- AAGTGATTCCTCCCCCTCGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation