Incidental Mutation 'R8724:Rbl2'
| ID |
662287 |
| 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 |
068573-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91841837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1011
(I1011T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000120426]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034091
AA Change: I1011T
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I1011T
| 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 |
possibly damaging
Transcript: ENSMUST00000209518
AA Change: I1001T
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211136
AA Change: I968T
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,737,405 (GRCm39) |
D2826E |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,051,120 (GRCm39) |
I486F |
probably damaging |
Het |
| Atg4b |
A |
T |
1: 93,696,023 (GRCm39) |
Y54F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,945 (GRCm39) |
I792F |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 36,945,042 (GRCm39) |
V334I |
probably damaging |
Het |
| Ccser1 |
A |
C |
6: 61,288,199 (GRCm39) |
S121R |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,856,199 (GRCm39) |
V406E |
possibly damaging |
Het |
| Ces2g |
C |
A |
8: 105,692,955 (GRCm39) |
A331D |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,474,760 (GRCm39) |
R299H |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dock10 |
T |
G |
1: 80,570,344 (GRCm39) |
I371L |
probably benign |
Het |
| Dpp9 |
T |
A |
17: 56,512,867 (GRCm39) |
T114S |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,796,475 (GRCm39) |
R160G |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,923,961 (GRCm39) |
D188G |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,651,624 (GRCm39) |
K122R |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,886 (GRCm39) |
S1486P |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,182,098 (GRCm39) |
I361T |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,818 (GRCm39) |
C761Y |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Eya1 |
A |
T |
1: 14,279,206 (GRCm39) |
D346E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,786 (GRCm39) |
Y2309C |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,066 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,577,097 (GRCm39) |
V143A |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,144,109 (GRCm39) |
I114T |
probably damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,564 (GRCm39) |
I109T |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hsf1 |
C |
T |
15: 76,381,999 (GRCm39) |
S199L |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,815,981 (GRCm39) |
N152S |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,617,100 (GRCm39) |
E82D |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,705,917 (GRCm39) |
K367T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,916,146 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,931,335 (GRCm39) |
V643I |
probably benign |
Het |
| Lipk |
G |
A |
19: 33,996,120 (GRCm39) |
V11M |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,751,249 (GRCm39) |
L66* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,451,500 (GRCm39) |
K379E |
probably damaging |
Het |
| Nat1 |
T |
A |
8: 67,944,443 (GRCm39) |
I276N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,141,184 (GRCm39) |
V910M |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,704 (GRCm39) |
I141N |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,373 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,124,583 (GRCm39) |
V529A |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,848,146 (GRCm39) |
T51I |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,968,956 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,333,982 (GRCm39) |
D438G |
unknown |
Het |
| Pgm1 |
A |
G |
4: 99,786,964 (GRCm39) |
T68A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,913,619 (GRCm39) |
V1006I |
unknown |
Het |
| Plk4 |
C |
T |
3: 40,768,022 (GRCm39) |
T855I |
probably damaging |
Het |
| Pnldc1 |
T |
A |
17: 13,111,703 (GRCm39) |
N335Y |
probably damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,784 (GRCm39) |
P658S |
probably benign |
Het |
| Rev1 |
A |
C |
1: 38,127,150 (GRCm39) |
V370G |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,643,316 (GRCm39) |
E43G |
unknown |
Het |
| Rtp2 |
C |
T |
16: 23,746,064 (GRCm39) |
G189D |
possibly damaging |
Het |
| Ryr1 |
G |
A |
7: 28,816,802 (GRCm39) |
A78V |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,293,165 (GRCm39) |
Y850* |
probably null |
Het |
| Senp3 |
T |
C |
11: 69,564,419 (GRCm39) |
Q547R |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,976 (GRCm39) |
L402P |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,855,453 (GRCm39) |
I485V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,012,610 (GRCm39) |
H204Q |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,623,301 (GRCm39) |
I180S |
probably damaging |
Het |
| Smyd1 |
T |
A |
6: 71,193,767 (GRCm39) |
Y420F |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,139,658 (GRCm39) |
I1168T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,861 (GRCm39) |
E7737G |
possibly damaging |
Het |
| Trappc4 |
T |
A |
9: 44,316,560 (GRCm39) |
H145L |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,512 (GRCm39) |
V1453A |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,681,110 (GRCm39) |
I318T |
probably benign |
Het |
| Zfp846 |
G |
A |
9: 20,505,352 (GRCm39) |
R404H |
possibly 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 |
|
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 |
|
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'- AGCCAGTAGAGATTCCAGCC -3'
(R):5'- ACAGCTAACACATGCAGGTG -3'
Sequencing Primer
(F):5'- CAGTAGAGATTCCAGCCCAGTG -3'
(R):5'- TAGTTCAGCCCCCATGTGAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation