Incidental Mutation 'R5332:Coro2b'
| ID |
423312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2b
|
| Ensembl Gene |
ENSMUSG00000041729 |
| Gene Name |
coronin, actin binding protein, 2B |
| Synonyms |
E130012P22Rik |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5332 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62336512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 254
(D254G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
| AlphaFold |
Q8BH44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048043
AA Change: D254G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: D254G
| 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: D249G
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: D249G
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
| Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
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 |
|
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 |
|
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 |
|
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'- GGTATCAGCATCATAGAATGGGAAC -3'
(R):5'- TCTCTACAGAGCCACATTCTGAG -3'
Sequencing Primer
(F):5'- TCATTGGCATGGACAGATCC -3'
(R):5'- ACATTCTGAGGGTCCTGGCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation