Incidental Mutation 'R0037:Cpt2'
| ID |
15669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt2
|
| Ensembl Gene |
ENSMUSG00000028607 |
| Gene Name |
carnitine palmitoyltransferase 2 |
| Synonyms |
CPTII, CPT II |
| MMRRC Submission |
038331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0037 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107761179-107780786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107765171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 152
(S152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030345]
[ENSMUST00000106719]
[ENSMUST00000106720]
[ENSMUST00000131644]
|
| AlphaFold |
P52825 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030345
AA Change: S198P
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: S198P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
49 |
648 |
1.4e-190 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106719
AA Change: S152P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607
AA Change: S152P
| 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
|
| Meta Mutation Damage Score |
0.8039 |
| Coding Region Coverage |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
| Validation Efficiency |
94% (83/88) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
| Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
| Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
| Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,750 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
| Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,956,449 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
| Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
| Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
| Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
| Lemd3 |
A |
C |
10: 120,761,361 (GRCm39) |
H898Q |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
| Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
| Melk |
T |
C |
4: 44,360,864 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,692 (GRCm39) |
V658A |
probably damaging |
Het |
| Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
| Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
probably 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 |
|
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 |
2012-12-21 |
Incidental Mutation