Incidental Mutation 'R9534:Coro2a'
| ID |
719601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2a
|
| Ensembl Gene |
ENSMUSG00000028337 |
| Gene Name |
coronin, actin binding protein 2A |
| Synonyms |
9030208C03Rik, IR10, coronin 4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46536937-46601929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46548884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030021]
[ENSMUST00000107756]
[ENSMUST00000107757]
|
| AlphaFold |
Q8C0P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030021
AA Change: T118A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337
AA Change: T118A
| 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: ENSMUST00000107756
AA Change: T118A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337
AA Change: T118A
| 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: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337
AA Change: T137A
| 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: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| Actn3 |
C |
A |
19: 4,913,477 (GRCm39) |
Q651H |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,980,976 (GRCm39) |
M753I |
probably benign |
Het |
| Ap1ar |
T |
C |
3: 127,602,364 (GRCm39) |
T225A |
probably damaging |
Het |
| Asic1 |
T |
G |
15: 99,594,397 (GRCm39) |
I281S |
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,114,189 (GRCm39) |
C264Y |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,052,419 (GRCm39) |
T3040A |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,320,693 (GRCm39) |
H1354R |
possibly damaging |
Het |
| Cc2d2b |
G |
T |
19: 40,799,068 (GRCm39) |
E860* |
probably null |
Het |
| Cenpn |
T |
A |
8: 117,661,474 (GRCm39) |
L191* |
probably null |
Het |
| Cep68 |
T |
C |
11: 20,190,686 (GRCm39) |
R109G |
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,250 (GRCm39) |
V144E |
unknown |
Het |
| Ecpas |
A |
G |
4: 58,807,867 (GRCm39) |
V1667A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,155 (GRCm39) |
D1195G |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,268,072 (GRCm39) |
V2130I |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,354,092 (GRCm39) |
S193T |
probably benign |
Het |
| Iqsec3 |
C |
A |
6: 121,367,077 (GRCm39) |
V724L |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,234 (GRCm39) |
S313T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,937 (GRCm39) |
I226F |
probably benign |
Het |
| Or4a68 |
A |
C |
2: 89,269,999 (GRCm39) |
V208G |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,121 (GRCm39) |
E124G |
probably damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,656 (GRCm39) |
C838Y |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,108,718 (GRCm39) |
M1245V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,132,123 (GRCm39) |
Y7C |
probably benign |
Het |
| Rdx |
C |
T |
9: 51,984,482 (GRCm39) |
R330* |
probably null |
Het |
| Scaf11 |
T |
G |
15: 96,318,209 (GRCm39) |
N452H |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,102 (GRCm39) |
Y57H |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,849,523 (GRCm39) |
M341L |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,870 (GRCm39) |
M620K |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,252,759 (GRCm39) |
S182T |
probably benign |
Het |
| Tdrd6 |
G |
T |
17: 43,936,510 (GRCm39) |
L1513I |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,173,689 (GRCm39) |
Y1524* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,060,999 (GRCm39) |
N143S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,583,096 (GRCm39) |
I591T |
possibly damaging |
Het |
| Usp21 |
A |
G |
1: 171,110,942 (GRCm39) |
S435P |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,264,312 (GRCm39) |
Y1748H |
probably damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,366,093 (GRCm39) |
K280N |
probably benign |
Het |
| Zan |
G |
T |
5: 137,407,945 (GRCm39) |
C3616* |
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,819,115 (GRCm39) |
D1316G |
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 |
|
|
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 |
|
RF012:Coro2a
|
UTSW |
4 |
46,542,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCTTCAAGAGGTGCC -3'
(R):5'- TGCCTTCCAGTCAAGGTCAG -3'
Sequencing Primer
(F):5'- CTTCAAGAGGTGCCAGTGTG -3'
(R):5'- AGGACTTTAGGGAGTCTCCAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation