Incidental Mutation 'R6601:Coro2a'
| ID |
525251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2a
|
| Ensembl Gene |
ENSMUSG00000028337 |
| Gene Name |
coronin, actin binding protein 2A |
| Synonyms |
9030208C03Rik, IR10, coronin 4 |
| MMRRC Submission |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46536937-46601929 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 46543421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 317
(Y317*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030021]
[ENSMUST00000107756]
[ENSMUST00000107757]
|
| AlphaFold |
Q8C0P5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030021
AA Change: Y298*
|
| SMART Domains |
Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337
AA Change: Y298*
| 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
AA Change: Y298*
|
| SMART Domains |
Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337
AA Change: Y298*
| 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
AA Change: Y317*
|
| SMART Domains |
Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337
AA Change: Y317*
| 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 |
noncoding transcript
Transcript: ENSMUST00000135062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139179
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
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 |
|
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'- CCAGCTTCAGCACTGATACTG -3'
(R):5'- GACTTAGCCTTGGCAACTGG -3'
Sequencing Primer
(F):5'- GCTTCAGCACTGATACTGTCATCAAG -3'
(R):5'- GCCAGGCCAAAGCTTTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation