Incidental Mutation 'R6648:Ccar2'
ID |
524386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccar2
|
Ensembl Gene |
ENSMUSG00000033712 |
Gene Name |
cell cycle activator and apoptosis regulator 2 |
Synonyms |
Dbc1, 2610301G19Rik |
MMRRC Submission |
044769-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.522)
|
Stock # |
R6648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70375613-70391260 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 70376674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 890
(D890A)
|
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 benign
Transcript: ENSMUST00000035612
AA Change: D890A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036924 Gene: ENSMUSG00000033712 AA Change: D890A
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: ENSMUST00000226385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228049
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGAGTCTCCTAAGAACCC -3'
(R):5'- CAGTGGACTGATCAGAGCCTTC -3'
Sequencing Primer
(F):5'- GTCTCCTAAGAACCCAGTATATGGAG -3'
(R):5'- GATCAGAGCCTTCCTGCCATG -3'
|
Posted On |
2018-06-22 |