Incidental Mutation 'R8513:Coro2a'
ID |
655970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro2a
|
Ensembl Gene |
ENSMUSG00000028337 |
Gene Name |
coronin, actin binding protein 2A |
Synonyms |
9030208C03Rik, IR10, coronin 4 |
MMRRC Submission |
067889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R8513 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46536937-46601929 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
ACCAGAAGAGCCATCCAG to ACCAG
at 46544117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030021]
[ENSMUST00000107756]
[ENSMUST00000107757]
|
AlphaFold |
Q8C0P5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030021
|
SMART Domains |
Protein: ENSMUSP00000030021 Gene: ENSMUSG00000028337
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 null
Transcript: ENSMUST00000107756
|
SMART Domains |
Protein: ENSMUSP00000103385 Gene: ENSMUSG00000028337
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 null
Transcript: ENSMUST00000107757
|
SMART Domains |
Protein: ENSMUSP00000103386 Gene: ENSMUSG00000028337
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoe |
C |
A |
7: 19,430,565 (GRCm39) |
G226W |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,090,405 (GRCm39) |
F67L |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,991,709 (GRCm39) |
I1348V |
possibly damaging |
Het |
Cdc73 |
C |
A |
1: 143,493,129 (GRCm39) |
E402* |
probably null |
Het |
Cpt2 |
G |
A |
4: 107,764,123 (GRCm39) |
A547V |
probably damaging |
Het |
Cpxm2 |
A |
T |
7: 131,745,431 (GRCm39) |
H131Q |
probably benign |
Het |
Ctdp1 |
G |
A |
18: 80,492,678 (GRCm39) |
L606F |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,627,260 (GRCm39) |
S1494P |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,120,570 (GRCm39) |
|
probably null |
Het |
Fgd3 |
T |
C |
13: 49,417,400 (GRCm39) |
T688A |
probably benign |
Het |
Galnt3 |
A |
T |
2: 65,924,064 (GRCm39) |
C401* |
probably null |
Het |
Gml2 |
C |
G |
15: 74,696,004 (GRCm39) |
P133A |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,291,930 (GRCm39) |
E86G |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,299,932 (GRCm39) |
E39G |
possibly damaging |
Het |
Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
Kiz |
A |
G |
2: 146,712,684 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,227,370 (GRCm39) |
L147H |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,367,444 (GRCm39) |
V539E |
probably damaging |
Het |
Nlrp6 |
A |
C |
7: 140,502,743 (GRCm39) |
D283A |
possibly damaging |
Het |
Ntf5 |
A |
G |
7: 45,065,179 (GRCm39) |
T104A |
probably damaging |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,148 (GRCm39) |
V234A |
unknown |
Het |
Pacsin3 |
A |
C |
2: 91,093,150 (GRCm39) |
N214T |
probably benign |
Het |
Pcdha6 |
T |
C |
18: 37,102,229 (GRCm39) |
I474T |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,813,581 (GRCm39) |
Y24C |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,158,972 (GRCm39) |
N749Y |
probably damaging |
Het |
Ptpn3 |
G |
A |
4: 57,270,085 (GRCm39) |
R26* |
probably null |
Het |
Rab7 |
T |
C |
6: 87,981,250 (GRCm39) |
Y144C |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,226,626 (GRCm39) |
S22G |
probably damaging |
Het |
Setdb2 |
G |
A |
14: 59,639,839 (GRCm39) |
T668M |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,382,050 (GRCm39) |
C510* |
probably null |
Het |
Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,438 (GRCm39) |
M284V |
probably benign |
Het |
Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
Stab1 |
C |
A |
14: 30,871,747 (GRCm39) |
|
probably null |
Het |
Tmem184b |
A |
T |
15: 79,254,123 (GRCm39) |
S142T |
probably benign |
Het |
Tmem201 |
A |
T |
4: 149,812,380 (GRCm39) |
M312K |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,786 (GRCm39) |
D214E |
possibly damaging |
Het |
Trav7-2 |
C |
T |
14: 53,628,478 (GRCm39) |
S72F |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,820 (GRCm39) |
T149A |
probably benign |
Het |
Zfp512 |
T |
C |
5: 31,637,425 (GRCm39) |
S505P |
probably damaging |
Het |
Zfp942 |
T |
C |
17: 22,147,282 (GRCm39) |
D449G |
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 |
R6760:Coro2a
|
UTSW |
4 |
46,540,572 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CCTGTACCTCTTAGAACCCTGG -3'
(R):5'- ATAATCCACAGACTCTGTCTTGAGG -3'
Sequencing Primer
(F):5'- AGAACCCTGGGATGTTTTCTGACC -3'
(R):5'- CACAGACTCTGTCTTGAGGACTAG -3'
|
Posted On |
2020-10-20 |