Incidental Mutation 'IGL03162:Rbl2'
| ID |
411451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbl2
|
| Ensembl Gene |
ENSMUSG00000031666 |
| Gene Name |
RB transcriptional corepressor like 2 |
| Synonyms |
p130, Rb2, retinoblastoma-like 2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91812330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 273
(T273A)
|
| 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: T316A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: T316A
| 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: T316A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: T273A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
| Adam5 |
T |
C |
8: 25,271,620 (GRCm39) |
T596A |
probably benign |
Het |
| Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
| Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
| Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
| Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,875,210 (GRCm39) |
G70D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,185,764 (GRCm39) |
V249A |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
| Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
| E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
| Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
| Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
| Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
| Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
| Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
| Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
| Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
| Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
| Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
| Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,978,930 (GRCm39) |
|
probably benign |
Het |
| Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation