Incidental Mutation 'R8199:Coro2b'
| ID |
635595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2b
|
| Ensembl Gene |
ENSMUSG00000041729 |
| Gene Name |
coronin, actin binding protein, 2B |
| Synonyms |
E130012P22Rik |
| MMRRC Submission |
067622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62336302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 267
(I267L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
| AlphaFold |
Q8BH44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048043
AA Change: I267L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: I267L
| 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 |
probably benign
Transcript: ENSMUST00000164246
AA Change: I262L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: I262L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
| 4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
| Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
| Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
| Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
| Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
| Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
| Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
| Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
| Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
| Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
| Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
| Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
| Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
| Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
| Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
| Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
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 |
|
|
R3971:Coro2b
|
UTSW |
9 |
62,336,522 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
|
|
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'- TCATGGGAAGCCACAATGATTAG -3'
(R):5'- ACAAGACAGATCGCCCTCTG -3'
Sequencing Primer
(F):5'- TGGGAAGCCACAATGATTAGGTTAG -3'
(R):5'- AGCCACTGGGATGCCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation