Incidental Mutation 'R1254:Coro2b'
ID |
151390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro2b
|
Ensembl Gene |
ENSMUSG00000041729 |
Gene Name |
coronin, actin binding protein, 2B |
Synonyms |
E130012P22Rik |
MMRRC Submission |
039321-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R1254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62336247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 280
(L280P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
AlphaFold |
Q8BH44 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048043
AA Change: L285P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041826 Gene: ENSMUSG00000041729 AA Change: L285P
Domain | Start | End | E-Value | Type |
DUF1899
|
10 |
74 |
2.89e-31 |
SMART |
WD40
|
73 |
116 |
8.75e-5 |
SMART |
WD40
|
126 |
166 |
4.95e-4 |
SMART |
WD40
|
169 |
208 |
1.33e-4 |
SMART |
WD40
|
211 |
254 |
2.56e1 |
SMART |
DUF1900
|
261 |
397 |
1.62e-84 |
SMART |
coiled coil region
|
436 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131981
|
SMART Domains |
Protein: ENSMUSP00000133481 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
DUF1900
|
3 |
97 |
6.37e-42 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151604
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164246
AA Change: L280P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128441 Gene: ENSMUSG00000041729 AA Change: L280P
Domain | Start | End | E-Value | Type |
DUF1899
|
5 |
69 |
2.89e-31 |
SMART |
WD40
|
68 |
111 |
8.75e-5 |
SMART |
WD40
|
121 |
161 |
4.95e-4 |
SMART |
WD40
|
164 |
203 |
1.33e-4 |
SMART |
WD40
|
206 |
249 |
2.56e1 |
SMART |
DUF1900
|
256 |
317 |
5.33e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173171
|
SMART Domains |
Protein: ENSMUSP00000134709 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
DUF1899
|
16 |
80 |
2.89e-31 |
SMART |
Pfam:WD40
|
87 |
121 |
1.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174439
|
SMART Domains |
Protein: ENSMUSP00000134079 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
WD40
|
1 |
41 |
4.95e-4 |
SMART |
WD40
|
44 |
83 |
1.33e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout reduces susceptibility to Doxorubicin-induced focal segmental glomerulosclerosis with lower levels of proteinuria and less renal glomerulus damage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
D430041D05Rik |
T |
G |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,113,959 (GRCm39) |
H1191L |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,812,734 (GRCm39) |
T1430A |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,956,490 (GRCm39) |
Y1602C |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,953,823 (GRCm39) |
S180P |
probably benign |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Klhdc3 |
C |
T |
17: 46,988,993 (GRCm39) |
V66I |
probably benign |
Het |
Or5p56 |
T |
A |
7: 107,589,647 (GRCm39) |
V25D |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,818,260 (GRCm39) |
H93R |
probably benign |
Het |
Pcdhb16 |
T |
G |
18: 37,612,348 (GRCm39) |
V436G |
possibly damaging |
Het |
Plekha6 |
G |
A |
1: 133,200,327 (GRCm39) |
R302H |
probably benign |
Het |
Ptk2 |
C |
T |
15: 73,101,819 (GRCm39) |
R797Q |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,247,083 (GRCm39) |
M117L |
probably damaging |
Het |
Rnf151 |
A |
T |
17: 24,936,526 (GRCm39) |
C20* |
probably null |
Het |
Robo4 |
T |
C |
9: 37,322,136 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
G |
T |
12: 100,585,788 (GRCm39) |
H168Q |
probably damaging |
Het |
Sstr1 |
G |
A |
12: 58,260,108 (GRCm39) |
V244M |
possibly damaging |
Het |
Tmem147 |
A |
T |
7: 30,428,795 (GRCm39) |
Y17* |
probably null |
Het |
Vmn1r7 |
A |
G |
6: 57,001,772 (GRCm39) |
C163R |
probably damaging |
Het |
|
Other mutations in Coro2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01772:Coro2b
|
APN |
9 |
62,333,090 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01834:Coro2b
|
APN |
9 |
62,338,639 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03242:Coro2b
|
APN |
9 |
62,336,243 (GRCm39) |
nonsense |
probably null |
|
PIT4151001:Coro2b
|
UTSW |
9 |
62,336,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Coro2b
|
UTSW |
9 |
62,335,259 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Coro2b
|
UTSW |
9 |
62,333,119 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0944:Coro2b
|
UTSW |
9 |
62,335,263 (GRCm39) |
missense |
probably benign |
0.08 |
R1115:Coro2b
|
UTSW |
9 |
62,338,609 (GRCm39) |
missense |
probably damaging |
0.96 |
R1422:Coro2b
|
UTSW |
9 |
62,336,229 (GRCm39) |
critical splice donor site |
probably null |
|
R1532:Coro2b
|
UTSW |
9 |
62,396,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Coro2b
|
UTSW |
9 |
62,333,123 (GRCm39) |
missense |
probably benign |
0.32 |
R3424:Coro2b
|
UTSW |
9 |
62,336,590 (GRCm39) |
splice site |
probably null |
|
R3971:Coro2b
|
UTSW |
9 |
62,336,522 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3972:Coro2b
|
UTSW |
9 |
62,336,522 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4035:Coro2b
|
UTSW |
9 |
62,333,071 (GRCm39) |
unclassified |
probably benign |
|
R4233:Coro2b
|
UTSW |
9 |
62,333,467 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4734:Coro2b
|
UTSW |
9 |
62,333,860 (GRCm39) |
missense |
probably benign |
0.02 |
R4825:Coro2b
|
UTSW |
9 |
62,361,905 (GRCm39) |
missense |
probably benign |
0.30 |
R5332:Coro2b
|
UTSW |
9 |
62,336,512 (GRCm39) |
missense |
probably damaging |
0.97 |
R5702:Coro2b
|
UTSW |
9 |
62,333,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R6474:Coro2b
|
UTSW |
9 |
62,333,910 (GRCm39) |
missense |
probably benign |
0.16 |
R6500:Coro2b
|
UTSW |
9 |
62,396,606 (GRCm39) |
missense |
probably benign |
0.24 |
R6674:Coro2b
|
UTSW |
9 |
62,339,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Coro2b
|
UTSW |
9 |
62,328,667 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7347:Coro2b
|
UTSW |
9 |
62,396,654 (GRCm39) |
missense |
probably benign |
|
R8199:Coro2b
|
UTSW |
9 |
62,336,302 (GRCm39) |
missense |
probably benign |
0.00 |
R8447:Coro2b
|
UTSW |
9 |
62,333,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Coro2b
|
UTSW |
9 |
62,333,809 (GRCm39) |
unclassified |
probably benign |
|
R9023:Coro2b
|
UTSW |
9 |
62,332,978 (GRCm39) |
missense |
|
|
R9211:Coro2b
|
UTSW |
9 |
62,427,662 (GRCm39) |
missense |
probably benign |
0.06 |
R9325:Coro2b
|
UTSW |
9 |
62,396,609 (GRCm39) |
missense |
probably benign |
|
R9443:Coro2b
|
UTSW |
9 |
62,333,080 (GRCm39) |
missense |
probably benign |
0.21 |
R9516:Coro2b
|
UTSW |
9 |
62,335,291 (GRCm39) |
nonsense |
probably null |
|
R9653:Coro2b
|
UTSW |
9 |
62,335,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCATTGGTCACATGTCAGGCTTAG -3'
(R):5'- GTCTCCAGGTGGAACACAAGACAG -3'
Sequencing Primer
(F):5'- AACTTGTCCCGAAAGGAGTTCTC -3'
(R):5'- GCAGCCAGCCTATATCTGAG -3'
|
Posted On |
2014-01-29 |