Incidental Mutation 'R5918:Rbl2'
| ID |
461471 |
| 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 |
044115-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5918 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91816758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 373
(V373F)
|
| 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: V416F
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: V416F
| 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: V416F
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: V373F
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.1624 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
93% (66/71) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,131,869 (GRCm39) |
I399F |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,659,703 (GRCm39) |
P239L |
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,200 (GRCm39) |
V245A |
probably benign |
Het |
| Anxa1 |
T |
C |
19: 20,355,857 (GRCm39) |
|
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,543,387 (GRCm39) |
K454R |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,708,064 (GRCm39) |
T227A |
probably benign |
Het |
| Bbs2 |
C |
T |
8: 94,824,931 (GRCm39) |
R17H |
probably damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,640,888 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
G |
T |
14: 61,009,737 (GRCm39) |
|
probably benign |
Het |
| Ccdc38 |
C |
G |
10: 93,406,748 (GRCm39) |
Y219* |
probably null |
Het |
| Ceacam3 |
G |
T |
7: 16,893,670 (GRCm39) |
D394Y |
probably damaging |
Het |
| Crip1 |
A |
C |
12: 113,117,287 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,260,803 (GRCm39) |
V1987A |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,025 (GRCm39) |
C4376F |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,763,332 (GRCm39) |
F446L |
probably damaging |
Het |
| Garin1a |
A |
G |
6: 29,285,942 (GRCm39) |
R76G |
probably null |
Het |
| Gm14322 |
A |
G |
2: 177,411,499 (GRCm39) |
D103G |
probably benign |
Het |
| Gpa33 |
T |
C |
1: 165,958,107 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
A |
1: 13,720,954 (GRCm39) |
I93F |
probably benign |
Het |
| Lifr |
A |
T |
15: 7,188,897 (GRCm39) |
T93S |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,810,308 (GRCm39) |
I101N |
probably damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,117 (GRCm39) |
V631M |
possibly damaging |
Het |
| Mctp2 |
A |
C |
7: 71,878,288 (GRCm39) |
D263E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,307,051 (GRCm39) |
I1627N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,087,906 (GRCm39) |
Y5188C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,460,048 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
T |
C |
2: 38,629,103 (GRCm39) |
D250G |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,128 (GRCm39) |
E168G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,944 (GRCm39) |
V205A |
probably damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,828 (GRCm39) |
Q80L |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,425 (GRCm39) |
I83T |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,048,684 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,897,139 (GRCm39) |
F252I |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,416,497 (GRCm39) |
Q29* |
probably null |
Het |
| Ppargc1a |
C |
T |
5: 51,620,579 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,922,765 (GRCm39) |
R242H |
probably benign |
Het |
| Ppp1r37 |
G |
T |
7: 19,266,036 (GRCm39) |
Q577K |
probably benign |
Het |
| Prcd |
A |
G |
11: 116,548,366 (GRCm39) |
E25G |
probably damaging |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Ptgs1 |
A |
C |
2: 36,141,089 (GRCm39) |
E512A |
probably damaging |
Het |
| Radil |
T |
G |
5: 142,473,357 (GRCm39) |
I535L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,708,577 (GRCm39) |
Y4802C |
probably benign |
Het |
| Sdc2 |
A |
G |
15: 33,028,313 (GRCm39) |
T144A |
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,021,398 (GRCm39) |
|
probably null |
Het |
| Sipa1l3 |
T |
C |
7: 29,096,631 (GRCm39) |
D531G |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,887,411 (GRCm39) |
C189F |
possibly damaging |
Het |
| Srcin1 |
T |
C |
11: 97,424,323 (GRCm39) |
|
probably null |
Het |
| Svep1 |
C |
T |
4: 58,069,345 (GRCm39) |
E2814K |
possibly damaging |
Het |
| Tjp3 |
T |
G |
10: 81,113,746 (GRCm39) |
H504P |
probably benign |
Het |
| Tmprss4 |
T |
A |
9: 45,086,414 (GRCm39) |
K378* |
probably null |
Het |
| Tns4 |
C |
T |
11: 98,964,497 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,298 (GRCm39) |
T15205A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,089,011 (GRCm39) |
G322V |
probably benign |
Het |
| Vac14 |
A |
T |
8: 111,363,104 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,372 (GRCm39) |
D85A |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,030 (GRCm39) |
L634P |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 45,001,271 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,974,086 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,069,955 (GRCm39) |
H648L |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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'- TCACACATCTTTGGATAATGGAACC -3'
(R):5'- TGACGGGTAACATAAGGCAC -3'
Sequencing Primer
(F):5'- CATCTTTGGATAATGGAACCTTTGAG -3'
(R):5'- GGGTAACATAAGGCACTAACCCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation