Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Cpt1a'

471988

Institutional Source

Beutler Lab

Gene Symbol

Cpt1a

Ensembl Gene

ENSMUSG00000024900

Gene Name

carnitine palmitoyltransferase 1a, liver

Synonyms

L-CPT I, CPTI, Cpt1

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3323301-3385732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3365760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

Ref Sequence

ENSEMBL: ENSMUSP00000025835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025835]

AlphaFold

P97742

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025835
AA Change: V286E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: V286E

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	possibly damaging	Het

Other mutations in Cpt1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Cpt1a	APN	19	3366389	missense	possibly damaging	0.85
allosouris	UTSW	19	3378472	missense	probably damaging	1.00
Tyrannosouris	UTSW	19	3362156	missense	probably damaging	1.00
R0029:Cpt1a	UTSW	19	3381674	missense	probably benign	0.04
R0029:Cpt1a	UTSW	19	3381674	missense	probably benign	0.04
R0305:Cpt1a	UTSW	19	3378455	missense	probably benign
R0963:Cpt1a	UTSW	19	3381634	missense	probably damaging	1.00
R1511:Cpt1a	UTSW	19	3365788	splice site	probably benign
R2102:Cpt1a	UTSW	19	3371585	missense	probably benign	0.25
R3034:Cpt1a	UTSW	19	3378390	missense	probably damaging	1.00
R3153:Cpt1a	UTSW	19	3356430	missense	probably damaging	0.99
R5195:Cpt1a	UTSW	19	3383800	missense	possibly damaging	0.88
R5391:Cpt1a	UTSW	19	3349260	missense	probably damaging	0.98
R6031:Cpt1a	UTSW	19	3371556	splice site	probably null
R6031:Cpt1a	UTSW	19	3371556	splice site	probably null
R6246:Cpt1a	UTSW	19	3376550	missense	probably damaging	0.99
R6339:Cpt1a	UTSW	19	3362152	missense	probably benign	0.27
R6427:Cpt1a	UTSW	19	3362156	missense	probably damaging	1.00
R6535:Cpt1a	UTSW	19	3365788	splice site	probably null
R6621:Cpt1a	UTSW	19	3378472	missense	probably damaging	1.00
R6892:Cpt1a	UTSW	19	3371660	missense	probably benign	0.00
R7142:Cpt1a	UTSW	19	3375100	missense	probably benign	0.00
R7385:Cpt1a	UTSW	19	3380155	missense	probably damaging	0.99
R7908:Cpt1a	UTSW	19	3362202	missense	probably benign	0.26
R8098:Cpt1a	UTSW	19	3370849	missense	probably benign
R8362:Cpt1a	UTSW	19	3370744	nonsense	probably null
R8444:Cpt1a	UTSW	19	3381981	missense	probably benign
R8854:Cpt1a	UTSW	19	3356327	missense	probably benign	0.00
R8918:Cpt1a	UTSW	19	3358258	missense
R8951:Cpt1a	UTSW	19	3362211	missense	probably benign	0.14
R9217:Cpt1a	UTSW	19	3375111	missense	probably benign	0.00
R9295:Cpt1a	UTSW	19	3378441	missense	probably damaging	0.99
R9495:Cpt1a	UTSW	19	3383795	missense	probably benign
R9560:Cpt1a	UTSW	19	3352531	missense	possibly damaging	0.89
R9735:Cpt1a	UTSW	19	3370825	missense	probably benign
X0019:Cpt1a	UTSW	19	3366348	missense	probably benign	0.01
Z1177:Cpt1a	UTSW	19	3366370	missense	probably damaging	1.00
Z1177:Cpt1a	UTSW	19	3370727	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAGCACAGCTGTCAGGG -3'
(R):5'- ATGAAGAAACCGTTCTCCTGAG -3'

Sequencing Primer
(F):5'- ACAGCTGTCAGGGAGCAC -3'
(R):5'- TGGATTCCCGGGATTGAACAC -3'

Posted On

2017-03-31