Incidental Mutation 'R0029:Cpt1a'
ID |
44598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpt1a
|
Ensembl Gene |
ENSMUSG00000024900 |
Gene Name |
carnitine palmitoyltransferase 1a, liver |
Synonyms |
Cpt1, CPTI, L-CPT I |
MMRRC Submission |
038323-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
3372334-3435733 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3431674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 698
(D698G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025835]
|
AlphaFold |
P97742 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025835
AA Change: D698G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000025835 Gene: ENSMUSG00000024900 AA Change: D698G
Domain | Start | End | E-Value | Type |
Pfam:CPT_N
|
1 |
47 |
2.3e-30 |
PFAM |
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
Pfam:Carn_acyltransf
|
171 |
762 |
6e-186 |
PFAM |
|
Meta Mutation Damage Score |
0.2214 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
94% (48/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
probably benign |
Het |
|
Other mutations in Cpt1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Cpt1a
|
APN |
19 |
3,416,389 (GRCm39) |
missense |
possibly damaging |
0.85 |
allosouris
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
Tyrannosouris
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0029:Cpt1a
|
UTSW |
19 |
3,431,674 (GRCm39) |
missense |
probably benign |
0.04 |
R0305:Cpt1a
|
UTSW |
19 |
3,428,455 (GRCm39) |
missense |
probably benign |
|
R0963:Cpt1a
|
UTSW |
19 |
3,431,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably benign |
|
R2102:Cpt1a
|
UTSW |
19 |
3,421,585 (GRCm39) |
missense |
probably benign |
0.25 |
R3034:Cpt1a
|
UTSW |
19 |
3,428,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R3153:Cpt1a
|
UTSW |
19 |
3,406,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R5195:Cpt1a
|
UTSW |
19 |
3,433,800 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5391:Cpt1a
|
UTSW |
19 |
3,399,260 (GRCm39) |
missense |
probably damaging |
0.98 |
R5964:Cpt1a
|
UTSW |
19 |
3,415,760 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
R6246:Cpt1a
|
UTSW |
19 |
3,426,550 (GRCm39) |
missense |
probably damaging |
0.99 |
R6339:Cpt1a
|
UTSW |
19 |
3,412,152 (GRCm39) |
missense |
probably benign |
0.27 |
R6427:Cpt1a
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R6535:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably null |
|
R6621:Cpt1a
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R6892:Cpt1a
|
UTSW |
19 |
3,421,660 (GRCm39) |
missense |
probably benign |
0.00 |
R7142:Cpt1a
|
UTSW |
19 |
3,425,100 (GRCm39) |
missense |
probably benign |
0.00 |
R7385:Cpt1a
|
UTSW |
19 |
3,430,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R7908:Cpt1a
|
UTSW |
19 |
3,412,202 (GRCm39) |
missense |
probably benign |
0.26 |
R8098:Cpt1a
|
UTSW |
19 |
3,420,849 (GRCm39) |
missense |
probably benign |
|
R8362:Cpt1a
|
UTSW |
19 |
3,420,744 (GRCm39) |
nonsense |
probably null |
|
R8444:Cpt1a
|
UTSW |
19 |
3,431,981 (GRCm39) |
missense |
probably benign |
|
R8854:Cpt1a
|
UTSW |
19 |
3,406,327 (GRCm39) |
missense |
probably benign |
0.00 |
R8918:Cpt1a
|
UTSW |
19 |
3,408,258 (GRCm39) |
missense |
|
|
R8951:Cpt1a
|
UTSW |
19 |
3,412,211 (GRCm39) |
missense |
probably benign |
0.14 |
R9217:Cpt1a
|
UTSW |
19 |
3,425,111 (GRCm39) |
missense |
probably benign |
0.00 |
R9295:Cpt1a
|
UTSW |
19 |
3,428,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R9495:Cpt1a
|
UTSW |
19 |
3,433,795 (GRCm39) |
missense |
probably benign |
|
R9560:Cpt1a
|
UTSW |
19 |
3,402,531 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9735:Cpt1a
|
UTSW |
19 |
3,420,825 (GRCm39) |
missense |
probably benign |
|
X0019:Cpt1a
|
UTSW |
19 |
3,416,348 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Cpt1a
|
UTSW |
19 |
3,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cpt1a
|
UTSW |
19 |
3,416,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAATGTCTTGTGGTTCCTCCCAG -3'
(R):5'- ATGAGATAACGTGGACGGCGACTTC -3'
Sequencing Primer
(F):5'- GGTTCCTCCCAGGTGATTG -3'
(R):5'- TCCTGTTCTCAAtgtaagtctgg -3'
|
Posted On |
2013-06-11 |