Incidental Mutation 'R4233:Ccar2'
| ID |
320982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccar2
|
| Ensembl Gene |
ENSMUSG00000033712 |
| Gene Name |
cell cycle activator and apoptosis regulator 2 |
| Synonyms |
Dbc1, 2610301G19Rik |
| MMRRC Submission |
041642-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.528)
|
| Stock # |
R4233 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70375613-70391260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70388540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 169
(T169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035612]
[ENSMUST00000058240]
[ENSMUST00000129767]
[ENSMUST00000153871]
|
| AlphaFold |
Q8VDP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035612
AA Change: T169A
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: T169A
| 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 |
probably benign
Transcript: ENSMUST00000058240
|
| SMART Domains |
Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4657
|
78 |
366 |
1e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153871
|
| SMART Domains |
Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4657
|
78 |
365 |
1.4e-132 |
PFAM |
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
T |
5: 138,562,454 (GRCm39) |
Y96N |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 120,002,202 (GRCm39) |
Q1572* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Aph1c |
A |
G |
9: 66,740,603 (GRCm39) |
F41S |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,227,628 (GRCm39) |
V458A |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cfap58 |
G |
A |
19: 47,963,994 (GRCm39) |
V541M |
possibly damaging |
Het |
| Coro2b |
T |
C |
9: 62,333,467 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,880,526 (GRCm39) |
T3865A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,360 (GRCm39) |
E1549G |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,019,982 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
G |
T |
15: 58,055,729 (GRCm39) |
T135K |
possibly damaging |
Het |
| Fhip2b |
A |
C |
14: 70,824,318 (GRCm39) |
V473G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,862,235 (GRCm39) |
I2205F |
possibly damaging |
Het |
| Gm12034 |
A |
G |
11: 20,396,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5108 |
C |
A |
5: 68,132,496 (GRCm39) |
T55K |
unknown |
Het |
| Gpa33 |
A |
T |
1: 165,974,340 (GRCm39) |
D59V |
probably damaging |
Het |
| Gpn2 |
T |
A |
4: 133,312,016 (GRCm39) |
Y83N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,453 (GRCm39) |
P460S |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,764,099 (GRCm39) |
S124R |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ldlrap1 |
T |
A |
4: 134,484,649 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,581 (GRCm39) |
E107G |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or52n4 |
A |
G |
7: 104,294,195 (GRCm39) |
V126A |
probably benign |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
T |
1: 97,792,119 (GRCm39) |
V434D |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,942,914 (GRCm39) |
N1257D |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,653,783 (GRCm39) |
A3870V |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,765,611 (GRCm39) |
D1375G |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,294,361 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,070 (GRCm39) |
F90S |
probably damaging |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
G |
5: 150,986,164 (GRCm39) |
S331P |
probably benign |
Het |
| Sult2a8 |
T |
A |
7: 14,147,608 (GRCm39) |
I228L |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,034,320 (GRCm39) |
E29D |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGCCTTTCAAAGAAAAGG -3'
(R):5'- TTCCCTCAGAAGCGTGAGTC -3'
Sequencing Primer
(F):5'- GACTAGACTCTTGAGTGTCCACAG -3'
(R):5'- CTCAGAAGCGTGAGTCCTGGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation