Incidental Mutation 'IGL00503:Ccar2'
ID |
332506 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccar2
|
Ensembl Gene |
ENSMUSG00000033712 |
Gene Name |
cell cycle activator and apoptosis regulator 2 |
Synonyms |
Dbc1, 2610301G19Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.528)
|
Stock # |
IGL00503
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
70375613-70391260 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 70379980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 402
(W402*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022680]
[ENSMUST00000035612]
|
AlphaFold |
Q8VDP4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022680
|
SMART Domains |
Protein: ENSMUSP00000022680 Gene: ENSMUSG00000022089
Domain | Start | End | E-Value | Type |
BAR
|
5 |
225 |
2.05e-55 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000035612
AA Change: W402*
|
SMART Domains |
Protein: ENSMUSP00000036924 Gene: ENSMUSG00000033712 AA Change: W402*
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
Pfam:S1-like
|
55 |
112 |
1.3e-29 |
PFAM |
DBC1
|
339 |
462 |
8.48e-73 |
SMART |
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
low complexity region
|
534 |
545 |
N/A |
INTRINSIC |
low complexity region
|
563 |
601 |
N/A |
INTRINSIC |
low complexity region
|
627 |
640 |
N/A |
INTRINSIC |
low complexity region
|
647 |
660 |
N/A |
INTRINSIC |
SCOP:d2mysb_
|
703 |
747 |
2e-3 |
SMART |
Blast:HDc
|
704 |
758 |
7e-7 |
BLAST |
coiled coil region
|
828 |
898 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227589
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice on a high fat diet are resistant to hepatic steatosis and associated liver inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
Dgke |
T |
C |
11: 88,932,327 (GRCm39) |
I488V |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
Edem3 |
T |
G |
1: 151,694,264 (GRCm39) |
S852A |
probably benign |
Het |
Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
Trim34a |
A |
T |
7: 103,910,538 (GRCm39) |
T447S |
probably damaging |
Het |
Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
Urgcp |
C |
T |
11: 5,666,448 (GRCm39) |
R630Q |
possibly damaging |
Het |
Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
Other mutations in Ccar2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Ccar2
|
APN |
14 |
70,383,311 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01450:Ccar2
|
APN |
14 |
70,377,200 (GRCm39) |
splice site |
probably benign |
|
IGL02306:Ccar2
|
APN |
14 |
70,379,471 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03403:Ccar2
|
APN |
14 |
70,377,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R0332:Ccar2
|
UTSW |
14 |
70,379,384 (GRCm39) |
splice site |
probably benign |
|
R0502:Ccar2
|
UTSW |
14 |
70,378,431 (GRCm39) |
missense |
probably benign |
0.00 |
R0827:Ccar2
|
UTSW |
14 |
70,377,287 (GRCm39) |
missense |
probably benign |
0.00 |
R1022:Ccar2
|
UTSW |
14 |
70,377,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Ccar2
|
UTSW |
14 |
70,377,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Ccar2
|
UTSW |
14 |
70,377,218 (GRCm39) |
missense |
probably benign |
0.42 |
R1258:Ccar2
|
UTSW |
14 |
70,390,122 (GRCm39) |
missense |
probably benign |
0.24 |
R1389:Ccar2
|
UTSW |
14 |
70,377,558 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1532:Ccar2
|
UTSW |
14 |
70,380,405 (GRCm39) |
missense |
probably benign |
0.01 |
R1870:Ccar2
|
UTSW |
14 |
70,377,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R2127:Ccar2
|
UTSW |
14 |
70,377,100 (GRCm39) |
missense |
probably benign |
0.33 |
R4233:Ccar2
|
UTSW |
14 |
70,388,540 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4569:Ccar2
|
UTSW |
14 |
70,389,359 (GRCm39) |
splice site |
probably null |
|
R4799:Ccar2
|
UTSW |
14 |
70,377,003 (GRCm39) |
missense |
probably damaging |
0.99 |
R5026:Ccar2
|
UTSW |
14 |
70,379,951 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5435:Ccar2
|
UTSW |
14 |
70,376,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Ccar2
|
UTSW |
14 |
70,388,800 (GRCm39) |
missense |
probably benign |
0.28 |
R6446:Ccar2
|
UTSW |
14 |
70,380,518 (GRCm39) |
missense |
probably benign |
0.31 |
R6594:Ccar2
|
UTSW |
14 |
70,377,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R6648:Ccar2
|
UTSW |
14 |
70,376,674 (GRCm39) |
missense |
probably benign |
0.29 |
R7103:Ccar2
|
UTSW |
14 |
70,379,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R7594:Ccar2
|
UTSW |
14 |
70,379,243 (GRCm39) |
nonsense |
probably null |
|
R7679:Ccar2
|
UTSW |
14 |
70,376,684 (GRCm39) |
nonsense |
probably null |
|
R7975:Ccar2
|
UTSW |
14 |
70,380,918 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8071:Ccar2
|
UTSW |
14 |
70,389,902 (GRCm39) |
missense |
probably benign |
0.26 |
R9360:Ccar2
|
UTSW |
14 |
70,379,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R9574:Ccar2
|
UTSW |
14 |
70,381,105 (GRCm39) |
missense |
probably benign |
0.01 |
R9631:Ccar2
|
UTSW |
14 |
70,389,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9705:Ccar2
|
UTSW |
14 |
70,380,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R9749:Ccar2
|
UTSW |
14 |
70,388,728 (GRCm39) |
missense |
probably benign |
0.28 |
V5088:Ccar2
|
UTSW |
14 |
70,388,738 (GRCm39) |
missense |
probably damaging |
0.99 |
V5622:Ccar2
|
UTSW |
14 |
70,388,738 (GRCm39) |
missense |
probably damaging |
0.99 |
V5622:Ccar2
|
UTSW |
14 |
70,388,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-08-05 |