Incidental Mutation 'R6760:Coro2a'
| ID |
531185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2a
|
| Ensembl Gene |
ENSMUSG00000028337 |
| Gene Name |
coronin, actin binding protein 2A |
| Synonyms |
9030208C03Rik, IR10, coronin 4 |
| MMRRC Submission |
044876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46536937-46601929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46540572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 449
(M449T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030021]
[ENSMUST00000046897]
[ENSMUST00000102924]
[ENSMUST00000107756]
[ENSMUST00000107757]
[ENSMUST00000184112]
|
| AlphaFold |
Q8C0P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030021
AA Change: M430T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337
AA Change: M430T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
5 |
69 |
3.93e-33 |
SMART |
|
WD40
|
68 |
111 |
2.04e-5 |
SMART |
|
WD40
|
121 |
161 |
1.58e-2 |
SMART |
|
WD40
|
169 |
208 |
2.55e-6 |
SMART |
|
DUF1900
|
261 |
397 |
9.15e-84 |
SMART |
|
coiled coil region
|
488 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046897
|
| SMART Domains |
Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
PRY
|
264 |
316 |
2.63e-13 |
SMART |
|
SPRY
|
317 |
440 |
2.48e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102924
|
| SMART Domains |
Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107756
AA Change: M430T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337
AA Change: M430T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
5 |
69 |
3.93e-33 |
SMART |
|
WD40
|
68 |
111 |
2.04e-5 |
SMART |
|
WD40
|
121 |
161 |
1.58e-2 |
SMART |
|
WD40
|
169 |
208 |
2.55e-6 |
SMART |
|
DUF1900
|
261 |
397 |
9.15e-84 |
SMART |
|
coiled coil region
|
488 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107757
AA Change: M449T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337
AA Change: M449T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
24 |
88 |
3.93e-33 |
SMART |
|
WD40
|
87 |
130 |
2.04e-5 |
SMART |
|
WD40
|
140 |
180 |
1.58e-2 |
SMART |
|
WD40
|
188 |
227 |
2.55e-6 |
SMART |
|
DUF1900
|
280 |
416 |
9.15e-84 |
SMART |
|
coiled coil region
|
507 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184112
|
| SMART Domains |
Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135062
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,180,210 (GRCm39) |
C370* |
probably null |
Het |
| Akap6 |
C |
T |
12: 53,186,561 (GRCm39) |
S1325L |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,873,566 (GRCm39) |
D813G |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,776 (GRCm39) |
I451F |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,123 (GRCm39) |
D65G |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,141,947 (GRCm39) |
V3049M |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,232,356 (GRCm39) |
L869P |
probably damaging |
Het |
| Chrna9 |
T |
A |
5: 66,128,571 (GRCm39) |
Y260N |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,374,823 (GRCm39) |
P782L |
unknown |
Het |
| Crispld1 |
T |
G |
1: 17,821,025 (GRCm39) |
V355G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,669,168 (GRCm39) |
I559V |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,758,364 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,306,451 (GRCm39) |
Y48C |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,248,212 (GRCm39) |
V367A |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,789 (GRCm39) |
R297W |
probably benign |
Het |
| Myh7b |
C |
A |
2: 155,462,038 (GRCm39) |
Y311* |
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,654,170 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
T |
A |
2: 85,877,358 (GRCm39) |
C177* |
probably null |
Het |
| Pakap |
T |
C |
4: 57,856,026 (GRCm39) |
W493R |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,637 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,313,980 (GRCm39) |
T1144M |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,901,904 (GRCm39) |
D35G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Timeless |
A |
G |
10: 128,081,986 (GRCm39) |
K537R |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,771,222 (GRCm39) |
V1004E |
probably damaging |
Het |
| Tubb4a |
T |
C |
17: 57,387,796 (GRCm39) |
E410G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,375,764 (GRCm39) |
A143V |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,714 (GRCm39) |
H730L |
possibly damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,484,229 (GRCm39) |
T657I |
probably damaging |
Het |
| Ybey |
A |
T |
10: 76,304,033 (GRCm39) |
N56K |
probably benign |
Het |
|
| Other mutations in Coro2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Coro2a
|
APN |
4 |
46,540,455 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03093:Coro2a
|
APN |
4 |
46,544,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
lonewolf
|
UTSW |
4 |
46,542,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Coro2a
|
UTSW |
4 |
46,548,917 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1862:Coro2a
|
UTSW |
4 |
46,548,797 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1931:Coro2a
|
UTSW |
4 |
46,539,138 (GRCm39) |
makesense |
probably null |
|
|
R4385:Coro2a
|
UTSW |
4 |
46,541,961 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5171:Coro2a
|
UTSW |
4 |
46,542,372 (GRCm39) |
intron |
probably benign |
|
|
R5243:Coro2a
|
UTSW |
4 |
46,545,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Coro2a
|
UTSW |
4 |
46,542,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Coro2a
|
UTSW |
4 |
46,564,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6014:Coro2a
|
UTSW |
4 |
46,542,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Coro2a
|
UTSW |
4 |
46,540,504 (GRCm39) |
missense |
probably benign |
|
|
R6264:Coro2a
|
UTSW |
4 |
46,562,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Coro2a
|
UTSW |
4 |
46,543,421 (GRCm39) |
nonsense |
probably null |
|
|
R6732:Coro2a
|
UTSW |
4 |
46,551,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7499:Coro2a
|
UTSW |
4 |
46,539,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7516:Coro2a
|
UTSW |
4 |
46,562,992 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7567:Coro2a
|
UTSW |
4 |
46,546,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Coro2a
|
UTSW |
4 |
46,546,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8008:Coro2a
|
UTSW |
4 |
46,551,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Coro2a
|
UTSW |
4 |
46,548,796 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8513:Coro2a
|
UTSW |
4 |
46,544,117 (GRCm39) |
frame shift |
probably null |
|
|
R8515:Coro2a
|
UTSW |
4 |
46,544,117 (GRCm39) |
frame shift |
probably null |
|
|
R9024:Coro2a
|
UTSW |
4 |
46,542,323 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9113:Coro2a
|
UTSW |
4 |
46,563,047 (GRCm39) |
missense |
|
|
|
R9445:Coro2a
|
UTSW |
4 |
46,540,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9534:Coro2a
|
UTSW |
4 |
46,548,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF012:Coro2a
|
UTSW |
4 |
46,542,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAGTTAAGGCCCAGTCC -3'
(R):5'- ATTTACCCACGGCCATTCAG -3'
Sequencing Primer
(F):5'- CAGTCCAGCCATGCAGC -3'
(R):5'- GCCATTCAGCCCTCTTCACAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation