Incidental Mutation 'R0165:Rbl2'
| ID |
24109 |
| 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 |
038441-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91800804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 89
(Y89N)
|
| 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: Y89N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: Y89N
| 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: ENSMUST00000141351
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209518
AA Change: Y89N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210533
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: Y89N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9305 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
| Validation Efficiency |
96% (81/84) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,213,924 (GRCm39) |
I717T |
possibly damaging |
Het |
| 6430571L13Rik |
A |
G |
9: 107,223,383 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,950,126 (GRCm39) |
|
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,558,499 (GRCm39) |
|
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,684,743 (GRCm39) |
T544A |
probably damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,517,445 (GRCm39) |
S459P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,011,243 (GRCm39) |
S155P |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,718,223 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,613,980 (GRCm39) |
N305S |
probably damaging |
Het |
| Catip |
T |
A |
1: 74,407,628 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Cplane1 |
G |
A |
15: 8,245,866 (GRCm39) |
V1413M |
probably damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,435,409 (GRCm39) |
Q150* |
probably null |
Het |
| Cyp2d22 |
T |
G |
15: 82,257,481 (GRCm39) |
N228T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,407 (GRCm39) |
V1340A |
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
G |
A |
14: 45,833,049 (GRCm39) |
T849M |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,998,306 (GRCm39) |
S3987P |
probably benign |
Het |
| Dst |
C |
A |
1: 34,193,727 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,049,203 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
C |
7: 121,779,002 (GRCm39) |
T281A |
probably benign |
Het |
| Extl1 |
A |
G |
4: 134,085,014 (GRCm39) |
F652S |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,484,292 (GRCm39) |
S541G |
possibly damaging |
Het |
| Gdap1l1 |
A |
G |
2: 163,293,419 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
T |
C |
17: 18,131,437 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
A |
3: 63,901,375 (GRCm39) |
I398N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,917,414 (GRCm39) |
V1556A |
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
| Ist1 |
A |
G |
8: 110,401,998 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,657,867 (GRCm39) |
I1934F |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,335,762 (GRCm39) |
M1118K |
possibly damaging |
Het |
| Lpin2 |
C |
T |
17: 71,553,514 (GRCm39) |
S846L |
probably damaging |
Het |
| Lrrc4b |
C |
A |
7: 44,111,739 (GRCm39) |
T537K |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,202,407 (GRCm39) |
|
probably benign |
Het |
| Meiob |
A |
G |
17: 25,054,135 (GRCm39) |
T401A |
probably benign |
Het |
| Mettl21e |
G |
A |
1: 44,250,283 (GRCm39) |
T41M |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,996,480 (GRCm39) |
E323K |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,198,907 (GRCm39) |
|
probably null |
Het |
| Or5p62 |
T |
C |
7: 107,771,882 (GRCm39) |
D23G |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,540,208 (GRCm39) |
Y274H |
probably damaging |
Het |
| Prom2 |
A |
T |
2: 127,381,434 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,099,974 (GRCm39) |
M1826K |
probably benign |
Het |
| Qki |
T |
A |
17: 10,457,892 (GRCm39) |
D159V |
probably damaging |
Het |
| Rab12 |
A |
T |
17: 66,807,312 (GRCm39) |
I139N |
probably damaging |
Het |
| Rab25 |
T |
A |
3: 88,455,362 (GRCm39) |
E7D |
probably benign |
Het |
| Rala |
A |
T |
13: 18,063,174 (GRCm39) |
V139E |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,407 (GRCm39) |
|
probably benign |
Het |
| Rho |
A |
T |
6: 115,909,188 (GRCm39) |
I75F |
probably damaging |
Het |
| Slc38a4 |
C |
A |
15: 96,906,830 (GRCm39) |
A303S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,670 (GRCm39) |
D551G |
probably null |
Het |
| Smyd3 |
T |
C |
1: 178,871,437 (GRCm39) |
N314S |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,512 (GRCm39) |
L180* |
probably null |
Het |
| Stat6 |
T |
C |
10: 127,493,096 (GRCm39) |
V576A |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,803 (GRCm39) |
D127G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,983,096 (GRCm39) |
R8610G |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,306,678 (GRCm39) |
|
probably null |
Het |
| Tcf3 |
C |
T |
10: 80,248,831 (GRCm39) |
R548Q |
probably damaging |
Het |
| Tlr9 |
C |
A |
9: 106,103,286 (GRCm39) |
A859D |
probably benign |
Het |
| Tmem106c |
T |
A |
15: 97,866,020 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,786 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
A |
G |
1: 161,322,300 (GRCm39) |
R7G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,742,871 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,639,433 (GRCm39) |
F1684I |
probably damaging |
Het |
| Ttbk1 |
C |
A |
17: 46,789,864 (GRCm39) |
R133L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,551,686 (GRCm39) |
S22962P |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,683,460 (GRCm39) |
L135Q |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vwce |
T |
C |
19: 10,637,337 (GRCm39) |
|
probably benign |
Het |
| Wdhd1 |
A |
G |
14: 47,504,525 (GRCm39) |
S350P |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,752,604 (GRCm39) |
S560P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTAGCTCAGCATGGCAGG -3'
(R):5'- TGGTAAAGGAAAACCACGACTCAGATTC -3'
Sequencing Primer
(F):5'- cataaaactctgccctgcttc -3'
(R):5'- CATGTTAGATGCTCACAAAACGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation