Incidental Mutation 'R6682:Cpt2'
ID |
527530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpt2
|
Ensembl Gene |
ENSMUSG00000028607 |
Gene Name |
carnitine palmitoyltransferase 2 |
Synonyms |
CPTII, CPT II |
MMRRC Submission |
044801-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6682 (G1)
|
Quality Score |
206.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
107761179-107780786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 107761627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 158
(S158R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030345]
[ENSMUST00000106719]
[ENSMUST00000106720]
[ENSMUST00000131644]
|
AlphaFold |
P52825 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030345
AA Change: S593R
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000030345 Gene: ENSMUSG00000028607 AA Change: S593R
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
49 |
648 |
1.4e-190 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106719
|
SMART Domains |
Protein: ENSMUSP00000102330 Gene: ENSMUSG00000028607
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
48 |
265 |
1.9e-55 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106720
AA Change: S158R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102331 Gene: ENSMUSG00000028607 AA Change: S158R
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
48 |
113 |
2.1e-21 |
PFAM |
Pfam:Carn_acyltransf
|
101 |
214 |
1.9e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131644
|
SMART Domains |
Protein: ENSMUSP00000114362 Gene: ENSMUSG00000028607
Domain | Start | End | E-Value | Type |
PDB:4EYW|B
|
27 |
88 |
2e-28 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175651
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
Cndp2 |
T |
C |
18: 84,695,455 (GRCm39) |
K149E |
probably benign |
Het |
Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
Gak |
T |
A |
5: 108,746,742 (GRCm39) |
K430I |
probably damaging |
Het |
Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
Mrps35 |
A |
T |
6: 146,949,777 (GRCm39) |
E97V |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
Slc12a9 |
A |
T |
5: 137,325,663 (GRCm39) |
L316Q |
probably damaging |
Het |
Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
Uhmk1 |
C |
T |
1: 170,039,804 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
possibly damaging |
Het |
|
Other mutations in Cpt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02655:Cpt2
|
APN |
4 |
107,764,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02755:Cpt2
|
APN |
4 |
107,764,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02803:Cpt2
|
APN |
4 |
107,764,583 (GRCm39) |
missense |
probably benign |
|
IGL03066:Cpt2
|
APN |
4 |
107,765,183 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03180:Cpt2
|
APN |
4 |
107,764,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Cpt2
|
UTSW |
4 |
107,765,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R0046:Cpt2
|
UTSW |
4 |
107,761,559 (GRCm39) |
splice site |
probably null |
|
R0046:Cpt2
|
UTSW |
4 |
107,761,559 (GRCm39) |
splice site |
probably null |
|
R0598:Cpt2
|
UTSW |
4 |
107,764,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1844:Cpt2
|
UTSW |
4 |
107,761,452 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2432:Cpt2
|
UTSW |
4 |
107,761,723 (GRCm39) |
nonsense |
probably null |
|
R6326:Cpt2
|
UTSW |
4 |
107,771,513 (GRCm39) |
missense |
probably benign |
0.00 |
R6803:Cpt2
|
UTSW |
4 |
107,769,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R7463:Cpt2
|
UTSW |
4 |
107,765,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Cpt2
|
UTSW |
4 |
107,764,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R7572:Cpt2
|
UTSW |
4 |
107,764,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7645:Cpt2
|
UTSW |
4 |
107,764,171 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8480:Cpt2
|
UTSW |
4 |
107,764,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R8513:Cpt2
|
UTSW |
4 |
107,764,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R9323:Cpt2
|
UTSW |
4 |
107,761,556 (GRCm39) |
missense |
probably benign |
0.00 |
R9523:Cpt2
|
UTSW |
4 |
107,764,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R9608:Cpt2
|
UTSW |
4 |
107,765,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTTTTCATCGACCAAGAAG -3'
(R):5'- TCACTGTGAGGTCCTGAGAG -3'
Sequencing Primer
(F):5'- GGCTTTTCATCGACCAAGAAGCTAAG -3'
(R):5'- AGGTCCTGAGAGTCTGAATTTTC -3'
|
Posted On |
2018-07-23 |