Incidental Mutation 'R1422:Coro2b'
| ID |
161127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro2b
|
| Ensembl Gene |
ENSMUSG00000041729 |
| Gene Name |
coronin, actin binding protein, 2B |
| Synonyms |
E130012P22Rik |
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
62326774-62444326 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 62336229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048043]
[ENSMUST00000164246]
[ENSMUST00000173171]
[ENSMUST00000174439]
|
| AlphaFold |
Q8BH44 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048043
|
| SMART Domains |
Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
| 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 null
Transcript: ENSMUST00000164246
|
| SMART Domains |
Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
| 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 |
0.9498 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
probably damaging |
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 |
|
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 |
|
|
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'- GCCAAGGCCACATTGGAAGATCTC -3'
(R):5'- TTCTTAGATGCAGCCTGACCAACAC -3'
Sequencing Primer
(F):5'- AACTTGTCCCGAAAGGAGTTCTC -3'
(R):5'- CCAACCTCCTCCCTACAGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation