Incidental Mutation 'IGL03403:Ccar2'
ID |
421506 |
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: 0.522)
|
Stock # |
IGL03403
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
70375613-70391260 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70377517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 712
(D712E)
|
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 damaging
Transcript: ENSMUST00000035612
AA Change: D712E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036924 Gene: ENSMUSG00000033712 AA Change: D712E
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
A |
15: 11,241,574 (GRCm39) |
I382N |
probably damaging |
Het |
Adamts5 |
T |
C |
16: 85,659,902 (GRCm39) |
T797A |
probably damaging |
Het |
Ahr |
A |
T |
12: 35,554,325 (GRCm39) |
V598E |
possibly damaging |
Het |
Akap10 |
A |
G |
11: 61,806,099 (GRCm39) |
S210P |
probably benign |
Het |
Asb5 |
G |
T |
8: 55,036,582 (GRCm39) |
|
probably benign |
Het |
AU041133 |
T |
C |
10: 81,974,178 (GRCm39) |
V31A |
probably damaging |
Het |
Bcar3 |
T |
C |
3: 122,306,618 (GRCm39) |
V197A |
probably benign |
Het |
Bptf |
A |
G |
11: 106,990,559 (GRCm39) |
V510A |
possibly damaging |
Het |
Cenpt |
G |
A |
8: 106,576,297 (GRCm39) |
Q85* |
probably null |
Het |
Ciita |
C |
A |
16: 10,321,736 (GRCm39) |
H98N |
probably damaging |
Het |
Cplane1 |
A |
C |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Csn1s1 |
T |
A |
5: 87,815,152 (GRCm39) |
M16K |
probably benign |
Het |
Fah |
A |
G |
7: 84,242,417 (GRCm39) |
I297T |
probably damaging |
Het |
Fbxo25 |
A |
G |
8: 13,979,423 (GRCm39) |
N214D |
probably benign |
Het |
Frem3 |
A |
C |
8: 81,337,719 (GRCm39) |
D4A |
probably benign |
Het |
Gm3409 |
A |
G |
5: 146,476,334 (GRCm39) |
K162E |
probably benign |
Het |
Gxylt1 |
T |
C |
15: 93,159,656 (GRCm39) |
D148G |
possibly damaging |
Het |
Hoxd4 |
A |
T |
2: 74,558,681 (GRCm39) |
E168V |
possibly damaging |
Het |
Ifna6 |
A |
G |
4: 88,745,695 (GRCm39) |
S15G |
possibly damaging |
Het |
Iqck |
T |
A |
7: 118,475,494 (GRCm39) |
H97Q |
probably benign |
Het |
Kif16b |
T |
A |
2: 142,553,789 (GRCm39) |
E1003V |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 40,592,836 (GRCm39) |
P3761L |
probably benign |
Het |
Mc4r |
C |
T |
18: 66,992,597 (GRCm39) |
C172Y |
possibly damaging |
Het |
Oosp1 |
T |
A |
19: 11,664,744 (GRCm39) |
N104I |
probably damaging |
Het |
Or2z9 |
A |
G |
8: 72,854,341 (GRCm39) |
T246A |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,861,117 (GRCm39) |
I513F |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,125 (GRCm39) |
S125P |
probably benign |
Het |
Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,729,333 (GRCm39) |
D144G |
possibly damaging |
Het |
Rreb1 |
A |
C |
13: 38,113,550 (GRCm39) |
N303T |
possibly damaging |
Het |
Rrn3 |
A |
T |
16: 13,617,809 (GRCm39) |
K351* |
probably null |
Het |
Sox30 |
A |
T |
11: 45,908,035 (GRCm39) |
E734V |
probably damaging |
Het |
Spns1 |
C |
T |
7: 125,970,708 (GRCm39) |
|
probably null |
Het |
Tgfbr2 |
T |
A |
9: 115,939,370 (GRCm39) |
E177D |
probably benign |
Het |
Tnfaip8l3 |
A |
G |
9: 53,934,741 (GRCm39) |
M78T |
possibly damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,387,114 (GRCm39) |
T151I |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,806,111 (GRCm39) |
Y41H |
possibly damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,922 (GRCm39) |
N730K |
probably damaging |
Het |
|
Other mutations in Ccar2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Ccar2
|
APN |
14 |
70,379,980 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
2016-08-02 |