Incidental Mutation 'IGL03066:Cpt2'
| ID |
409694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpt2
|
| Ensembl Gene |
ENSMUSG00000028607 |
| Gene Name |
carnitine palmitoyltransferase 2 |
| Synonyms |
CPTII, CPT II |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107761179-107780786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107765183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 148
(F148L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030345]
[ENSMUST00000106719]
[ENSMUST00000106720]
[ENSMUST00000131644]
|
| AlphaFold |
P52825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030345
AA Change: F194L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: F194L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
49 |
648 |
1.4e-190 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106719
AA Change: F148L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
48 |
265 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106720
|
| SMART Domains |
Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
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 |
|
|
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 |
|
R6682:Cpt2
|
UTSW |
4 |
107,761,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation