Incidental Mutation 'R1022:Ccar2'
| ID |
98805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccar2
|
| Ensembl Gene |
ENSMUSG00000033712 |
| Gene Name |
cell cycle activator and apoptosis regulator 2 |
| Synonyms |
Dbc1, 2610301G19Rik |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.522)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70375613-70391260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70377964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 674
(S674P)
|
| 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: S674P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: S674P
| 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 |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTCTACCCTGACAGGGAAAG -3'
(R):5'- TCTAGAAGGAGGATGGGCTTCTGC -3'
Sequencing Primer
(F):5'- CCCTGACAGGGAAAGTGGAG -3'
(R):5'- ccctccaaccataaattcacttttc -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation