Incidental Mutation 'R0598:Cpt2'
| ID |
55160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt2
|
| Ensembl Gene |
ENSMUSG00000028607 |
| Gene Name |
carnitine palmitoyltransferase 2 |
| Synonyms |
CPTII, CPT II |
| MMRRC Submission |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0598 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107761179-107780786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107764135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 543
(T543N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030345]
[ENSMUST00000106719]
[ENSMUST00000106720]
[ENSMUST00000131644]
|
| AlphaFold |
P52825 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030345
AA Change: T543N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: T543N
| 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 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
| Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTTTGGCTGTTTCGACAC -3'
(R):5'- TTCCAGATGGCTTTCCTGCGAC -3'
Sequencing Primer
(F):5'- TGTTTCGACACAGCACAGG -3'
(R):5'- TTCCTGCGACAGTATGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation