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

Cpt1, CPTI, L-CPT I

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

3372334-3435733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3415760 bp (GRCm39)

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: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gnao1	G	A	8: 94,693,627 (GRCm39)	D337N	probably benign	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 179,673,218 (GRCm39)	S84R	probably benign	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,718,750 (GRCm39)	F306V	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Snx16	C	T	3: 10,499,541 (GRCm39)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 115,939,323 (GRCm39)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	possibly damaging	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
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
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'- ACTTAGCACAGCTGTCAGGG -3'
(R):5'- ATGAAGAAACCGTTCTCCTGAG -3'

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

Posted On

2017-03-31