Incidental Mutation 'R6732:Coro2a'
| ID |
530098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2a
|
| Ensembl Gene |
ENSMUSG00000028337 |
| Gene Name |
coronin, actin binding protein 2A |
| Synonyms |
9030208C03Rik, IR10, coronin 4 |
| MMRRC Submission |
044850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6732 (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 T
at 46551374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 110
(N110K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030021]
[ENSMUST00000107756]
[ENSMUST00000107757]
|
| AlphaFold |
Q8C0P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030021
AA Change: N91K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337
AA Change: N91K
| 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 damaging
Transcript: ENSMUST00000107756
AA Change: N91K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337
AA Change: N91K
| 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 damaging
Transcript: ENSMUST00000107757
AA Change: N110K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337
AA Change: N110K
| 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: ENSMUST00000139179
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (43/44) |
| 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 |
|---|
| Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
| Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
| Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,943 (GRCm39) |
V93A |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
| Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
| Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
| Galnt2 |
T |
A |
8: 125,067,561 (GRCm39) |
W447R |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
| Mroh7 |
GTT |
GTTT |
4: 106,537,910 (GRCm39) |
|
probably null |
Het |
| Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
| Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
| Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
| Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,573 (GRCm39) |
S87P |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
| Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
| Smyd3 |
T |
G |
1: 179,223,395 (GRCm39) |
H178P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
| Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
| Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
probably damaging |
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 |
|
|
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'- TGCCATGGATCCCAAGTCTC -3'
(R):5'- TGCCTCCTCTGTGATGATTG -3'
Sequencing Primer
(F):5'- ACCATGTCGCCTCCAGC -3'
(R):5'- TGACTGACTGACTGACTGACTGAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation