Incidental Mutation 'IGL01834:Coro2b'
| ID |
154883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Coro2b
|
| Ensembl Gene |
ENSMUSG00000041729 |
| Gene Name |
coronin, actin binding protein, 2B |
| Synonyms |
E130012P22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62338639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 193
(T193I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
| AlphaFold |
Q8BH44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048043
AA Change: T198I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: T198I
| 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 |
possibly damaging
Transcript: ENSMUST00000164246
AA Change: T193I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: T193I
| 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 |
possibly damaging
Transcript: ENSMUST00000174439
AA Change: T73I
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134079
Gene: ENSMUSG00000041729
AA Change: T73I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
41 |
4.95e-4 |
SMART |
|
WD40
|
44 |
83 |
1.33e-4 |
SMART |
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| Cd86 |
G |
A |
16: 36,427,481 (GRCm39) |
R283W |
probably benign |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,026,140 (GRCm39) |
K87* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Naprt |
A |
G |
15: 75,765,648 (GRCm39) |
F92S |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,692 (GRCm39) |
N613Y |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Sympk |
G |
T |
7: 18,777,360 (GRCm39) |
A537S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
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 |
|
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 |
|
R1254:Coro2b
|
UTSW |
9 |
62,336,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation