Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Cpt1a'

400184

Institutional Source

Beutler Lab

Gene Symbol

Cpt1a

Ensembl Gene

ENSMUSG00000024900

Gene Name

carnitine palmitoyltransferase 1a, liver

Synonyms

Cpt1, CPTI, L-CPT I

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3372334-3435733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3433800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 761 (I761F)

Ref Sequence

ENSEMBL: ENSMUSP00000025835 (fasta)

Gene Model

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

AlphaFold

P97742

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025835
AA Change: I761F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: I761F

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

0.9049

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably 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
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'- AGACAGAGTCTTGCTATATAGCCC -3'
(R):5'- TGTAGTAGGGTCACAAGTCAAAC -3'

Sequencing Primer
(F):5'- CCAGGCTGGGTTTGAACTTGC -3'
(R):5'- TCAAACGGTGGAGCCTACG -3'

Posted On

2016-07-06