Incidental Mutation 'R3971:Coro2b'
ID |
310976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro2b
|
Ensembl Gene |
ENSMUSG00000041729 |
Gene Name |
coronin, actin binding protein, 2B |
Synonyms |
E130012P22Rik |
MMRRC Submission |
040839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R3971 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 62336522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 251
(A251T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
AlphaFold |
Q8BH44 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048043
AA Change: A251T
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041826 Gene: ENSMUSG00000041729 AA Change: A251T
Domain | Start | End | E-Value | Type |
DUF1899
|
10 |
74 |
2.89e-31 |
SMART |
WD40
|
73 |
116 |
8.75e-5 |
SMART |
WD40
|
126 |
166 |
4.95e-4 |
SMART |
WD40
|
169 |
208 |
1.33e-4 |
SMART |
WD40
|
211 |
254 |
2.56e1 |
SMART |
DUF1900
|
261 |
397 |
1.62e-84 |
SMART |
coiled coil region
|
436 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131981
|
SMART Domains |
Protein: ENSMUSP00000133481 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
DUF1900
|
3 |
97 |
6.37e-42 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151604
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164246
AA Change: A246T
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128441 Gene: ENSMUSG00000041729 AA Change: A246T
Domain | Start | End | E-Value | Type |
DUF1899
|
5 |
69 |
2.89e-31 |
SMART |
WD40
|
68 |
111 |
8.75e-5 |
SMART |
WD40
|
121 |
161 |
4.95e-4 |
SMART |
WD40
|
164 |
203 |
1.33e-4 |
SMART |
WD40
|
206 |
249 |
2.56e1 |
SMART |
DUF1900
|
256 |
317 |
5.33e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173171
|
SMART Domains |
Protein: ENSMUSP00000134709 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
DUF1899
|
16 |
80 |
2.89e-31 |
SMART |
Pfam:WD40
|
87 |
121 |
1.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174439
|
SMART Domains |
Protein: ENSMUSP00000134079 Gene: ENSMUSG00000041729
Domain | Start | End | E-Value | Type |
WD40
|
1 |
41 |
4.95e-4 |
SMART |
WD40
|
44 |
83 |
1.33e-4 |
SMART |
|
Meta Mutation Damage Score |
0.3063 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
95% (38/40) |
MGI Phenotype |
PHENOTYPE: Homozygous knockout reduces susceptibility to Doxorubicin-induced focal segmental glomerulosclerosis with lower levels of proteinuria and less renal glomerulus damage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,713,506 (GRCm39) |
D120E |
unknown |
Het |
Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
Cd72 |
C |
T |
4: 43,449,491 (GRCm39) |
R275H |
probably damaging |
Het |
Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
A |
G |
14: 51,602,841 (GRCm39) |
Y59C |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,370,987 (GRCm39) |
K189E |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
Wac |
T |
C |
18: 7,916,175 (GRCm39) |
V303A |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
probably benign |
Het |
|
Other mutations in Coro2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01772:Coro2b
|
APN |
9 |
62,333,090 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01834:Coro2b
|
APN |
9 |
62,338,639 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03242:Coro2b
|
APN |
9 |
62,336,243 (GRCm39) |
nonsense |
probably null |
|
PIT4151001:Coro2b
|
UTSW |
9 |
62,336,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Coro2b
|
UTSW |
9 |
62,335,259 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Coro2b
|
UTSW |
9 |
62,333,119 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0944:Coro2b
|
UTSW |
9 |
62,335,263 (GRCm39) |
missense |
probably benign |
0.08 |
R1115:Coro2b
|
UTSW |
9 |
62,338,609 (GRCm39) |
missense |
probably damaging |
0.96 |
R1254:Coro2b
|
UTSW |
9 |
62,336,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R1422:Coro2b
|
UTSW |
9 |
62,336,229 (GRCm39) |
critical splice donor site |
probably null |
|
R1532:Coro2b
|
UTSW |
9 |
62,396,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Coro2b
|
UTSW |
9 |
62,333,123 (GRCm39) |
missense |
probably benign |
0.32 |
R3424:Coro2b
|
UTSW |
9 |
62,336,590 (GRCm39) |
splice site |
probably null |
|
R3972:Coro2b
|
UTSW |
9 |
62,336,522 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4035:Coro2b
|
UTSW |
9 |
62,333,071 (GRCm39) |
unclassified |
probably benign |
|
R4233:Coro2b
|
UTSW |
9 |
62,333,467 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4734:Coro2b
|
UTSW |
9 |
62,333,860 (GRCm39) |
missense |
probably benign |
0.02 |
R4825:Coro2b
|
UTSW |
9 |
62,361,905 (GRCm39) |
missense |
probably benign |
0.30 |
R5332:Coro2b
|
UTSW |
9 |
62,336,512 (GRCm39) |
missense |
probably damaging |
0.97 |
R5702:Coro2b
|
UTSW |
9 |
62,333,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R6474:Coro2b
|
UTSW |
9 |
62,333,910 (GRCm39) |
missense |
probably benign |
0.16 |
R6500:Coro2b
|
UTSW |
9 |
62,396,606 (GRCm39) |
missense |
probably benign |
0.24 |
R6674:Coro2b
|
UTSW |
9 |
62,339,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Coro2b
|
UTSW |
9 |
62,328,667 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7347:Coro2b
|
UTSW |
9 |
62,396,654 (GRCm39) |
missense |
probably benign |
|
R8199:Coro2b
|
UTSW |
9 |
62,336,302 (GRCm39) |
missense |
probably benign |
0.00 |
R8447:Coro2b
|
UTSW |
9 |
62,333,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Coro2b
|
UTSW |
9 |
62,333,809 (GRCm39) |
unclassified |
probably benign |
|
R9023:Coro2b
|
UTSW |
9 |
62,332,978 (GRCm39) |
missense |
|
|
R9211:Coro2b
|
UTSW |
9 |
62,427,662 (GRCm39) |
missense |
probably benign |
0.06 |
R9325:Coro2b
|
UTSW |
9 |
62,396,609 (GRCm39) |
missense |
probably benign |
|
R9443:Coro2b
|
UTSW |
9 |
62,333,080 (GRCm39) |
missense |
probably benign |
0.21 |
R9516:Coro2b
|
UTSW |
9 |
62,335,291 (GRCm39) |
nonsense |
probably null |
|
R9653:Coro2b
|
UTSW |
9 |
62,335,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGTCAGGCTGCATCT -3'
(R):5'- TGCATGTGTTGGAGAAGGAG -3'
Sequencing Primer
(F):5'- CTAAGAAGAGAGTGTGGCTCCTTCC -3'
(R):5'- CTCTTACAAAGACCCTGGTGATGG -3'
|
Posted On |
2015-04-29 |