Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Cpt1a'

24941

Institutional Source

Beutler Lab

Gene Symbol

Cpt1a

Ensembl Gene

ENSMUSG00000024900

Gene Name

carnitine palmitoyltransferase 1a, liver

Synonyms

Cpt1, CPTI, L-CPT I

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3372334-3435733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3428455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 610 (T610A)

Ref Sequence

ENSEMBL: ENSMUSP00000025835 (fasta)

Gene Model

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

AlphaFold

P97742

Predicted Effect

probably benign
Transcript: ENSMUST00000025835
AA Change: T610A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: T610A

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

0.0608

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		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
R0029:Cpt1a	UTSW	19	3,431,674 (GRCm39)	missense	probably benign	0.04
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'- GGTCCCTTCTCCCTTAGACTTAGATGG -3'
(R):5'- GCGAGCAATACTCTCTTCTGTATGTCC -3'

Sequencing Primer
(F):5'- GGCCACTCCCACCTGTTAG -3'
(R):5'- gagggaggaagggtggag -3'

Posted On

2013-04-16