Incidental Mutation 'R8513:Cpt2'
| ID |
655972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt2
|
| Ensembl Gene |
ENSMUSG00000028607 |
| Gene Name |
carnitine palmitoyltransferase 2 |
| Synonyms |
CPTII, CPT II |
| MMRRC Submission |
067889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R8513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107761179-107780786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107764123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 547
(A547V)
|
| 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: A547V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: A547V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoe |
C |
A |
7: 19,430,565 (GRCm39) |
G226W |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,090,405 (GRCm39) |
F67L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,991,709 (GRCm39) |
I1348V |
possibly damaging |
Het |
| Cdc73 |
C |
A |
1: 143,493,129 (GRCm39) |
E402* |
probably null |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,745,431 (GRCm39) |
H131Q |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,678 (GRCm39) |
L606F |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,260 (GRCm39) |
S1494P |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,120,570 (GRCm39) |
|
probably null |
Het |
| Fgd3 |
T |
C |
13: 49,417,400 (GRCm39) |
T688A |
probably benign |
Het |
| Galnt3 |
A |
T |
2: 65,924,064 (GRCm39) |
C401* |
probably null |
Het |
| Gml2 |
C |
G |
15: 74,696,004 (GRCm39) |
P133A |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,291,930 (GRCm39) |
E86G |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,299,932 (GRCm39) |
E39G |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,712,684 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,227,370 (GRCm39) |
L147H |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,367,444 (GRCm39) |
V539E |
probably damaging |
Het |
| Nlrp6 |
A |
C |
7: 140,502,743 (GRCm39) |
D283A |
possibly damaging |
Het |
| Ntf5 |
A |
G |
7: 45,065,179 (GRCm39) |
T104A |
probably damaging |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,148 (GRCm39) |
V234A |
unknown |
Het |
| Pacsin3 |
A |
C |
2: 91,093,150 (GRCm39) |
N214T |
probably benign |
Het |
| Pcdha6 |
T |
C |
18: 37,102,229 (GRCm39) |
I474T |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,813,581 (GRCm39) |
Y24C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,158,972 (GRCm39) |
N749Y |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,270,085 (GRCm39) |
R26* |
probably null |
Het |
| Rab7 |
T |
C |
6: 87,981,250 (GRCm39) |
Y144C |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,226,626 (GRCm39) |
S22G |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,639,839 (GRCm39) |
T668M |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,382,050 (GRCm39) |
C510* |
probably null |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,438 (GRCm39) |
M284V |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Stab1 |
C |
A |
14: 30,871,747 (GRCm39) |
|
probably null |
Het |
| Tmem184b |
A |
T |
15: 79,254,123 (GRCm39) |
S142T |
probably benign |
Het |
| Tmem201 |
A |
T |
4: 149,812,380 (GRCm39) |
M312K |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,786 (GRCm39) |
D214E |
possibly damaging |
Het |
| Trav7-2 |
C |
T |
14: 53,628,478 (GRCm39) |
S72F |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,820 (GRCm39) |
T149A |
probably benign |
Het |
| Zfp512 |
T |
C |
5: 31,637,425 (GRCm39) |
S505P |
probably damaging |
Het |
| Zfp942 |
T |
C |
17: 22,147,282 (GRCm39) |
D449G |
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 |
|
|
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 |
|
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 |
|
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'- TGTGTCACCCTAGCTTCTGG -3'
(R):5'- CAGTGGCTACCTATGAATCCTGC -3'
Sequencing Primer
(F):5'- CTTCTGGTCGCTAGGGGC -3'
(R):5'- TACCTATGAATCCTGCAGCACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation