Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:Cpt1a'

513861

Institutional Source

Beutler Lab

Gene Symbol

Cpt1a

Ensembl Gene

ENSMUSG00000024900

Gene Name

carnitine palmitoyltransferase 1a, liver

Synonyms

Cpt1, CPTI, L-CPT I

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3372334-3435733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3412152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 208 (D208A)

Ref Sequence

ENSEMBL: ENSMUSP00000025835 (fasta)

Gene Model

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

AlphaFold

P97742

Predicted Effect

probably benign
Transcript: ENSMUST00000025835
AA Change: D208A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: D208A

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

0.2433

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

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
4933424G06Rik	A	T	1: 36,749,542 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,310,091 (GRCm39)	S743R	probably damaging	Het
Ak8	A	G	2: 28,624,460 (GRCm39)		probably null	Het
Alpk2	A	G	18: 65,482,877 (GRCm39)	M377T	probably benign	Het
Ap1g1	G	A	8: 110,571,000 (GRCm39)	V425I	possibly damaging	Het
Apob	A	T	12: 8,066,188 (GRCm39)	R4353W	probably damaging	Het
Arhgef38	T	C	3: 132,839,423 (GRCm39)	K540R	probably benign	Het
B3galt2	A	T	1: 143,522,640 (GRCm39)	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,651,583 (GRCm39)	V159I	probably benign	Het
C2cd2l	T	C	9: 44,224,788 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,661,234 (GRCm39)	T1115S	probably damaging	Het
Chst2	C	T	9: 95,287,803 (GRCm39)	G181D	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crocc2	A	G	1: 93,141,754 (GRCm39)	E1183G	probably benign	Het
Defa39	G	A	8: 22,193,485 (GRCm39)	S45F	possibly damaging	Het
Dlg5	T	A	14: 24,208,128 (GRCm39)	H1003L	probably damaging	Het
Dok2	A	T	14: 71,013,158 (GRCm39)	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111 (GRCm39)	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,612,639 (GRCm39)	D2838V	probably damaging	Het
Frem3	A	G	8: 81,339,644 (GRCm39)	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,923,477 (GRCm39)	F514I	probably damaging	Het
Gm8104	T	C	14: 42,958,942 (GRCm39)	M44T	probably benign	Het
Golph3l	T	A	3: 95,524,750 (GRCm39)	W334R	probably damaging	Het
Gpr179	A	T	11: 97,235,002 (GRCm39)	F443I	probably damaging	Het
Ift172	A	G	5: 31,413,927 (GRCm39)	V1467A	probably benign	Het
Ift172	A	T	5: 31,444,289 (GRCm39)	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,501,016 (GRCm39)	A464V	possibly damaging	Het
Irx5	A	G	8: 93,086,481 (GRCm39)	E188G	probably damaging	Het
Jak1	A	G	4: 101,019,123 (GRCm39)	V710A	probably damaging	Het
Kcng4	A	T	8: 120,359,693 (GRCm39)	F228I	probably damaging	Het
Lifr	A	G	15: 7,196,530 (GRCm39)	N238S	probably benign	Het
Ltbp3	C	A	19: 5,797,505 (GRCm39)	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,319,794 (GRCm39)	C219R	probably benign	Het
Mepce	A	T	5: 137,783,950 (GRCm39)	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,420,598 (GRCm39)	F193S	probably damaging	Het
Miox	T	A	15: 89,219,702 (GRCm39)	Y63*	probably null	Het
Msl2	A	T	9: 100,978,949 (GRCm39)	H441L	probably benign	Het
Nemp2	T	A	1: 52,680,069 (GRCm39)	S98T	possibly damaging	Het
Neto2	G	T	8: 86,367,187 (GRCm39)	A547E	probably benign	Het
Nol12	T	C	15: 78,825,033 (GRCm39)		probably benign	Het
Npr3	T	C	15: 11,845,361 (GRCm39)	I504V	probably damaging	Het
Or4c106	A	G	2: 88,683,215 (GRCm39)	D307G	probably null	Het
Pcdhb3	T	C	18: 37,433,998 (GRCm39)		probably benign	Het
Pear1	C	A	3: 87,659,827 (GRCm39)	G720W	probably damaging	Het
Pibf1	T	G	14: 99,344,834 (GRCm39)	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,193,016 (GRCm39)	N217I	probably damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Plcl1	C	T	1: 55,735,474 (GRCm39)	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,571,228 (GRCm39)	K656*	probably null	Het
Prr22	G	A	17: 57,078,490 (GRCm39)	M214I	probably benign	Het
Ror1	G	T	4: 100,269,128 (GRCm39)	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 62,108,642 (GRCm39)	W244*	probably null	Het
Slamf6	A	G	1: 171,775,615 (GRCm39)	N320S	probably null	Het
Slc1a6	A	C	10: 78,635,919 (GRCm39)	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,881,038 (GRCm39)	T2161K	probably benign	Het
Spata31e2	T	A	1: 26,721,586 (GRCm39)	D1198V	probably benign	Het
Sstr2	T	C	11: 113,515,375 (GRCm39)	F98S	probably damaging	Het
Stk33	A	T	7: 108,920,672 (GRCm39)	D348E	probably benign	Het
Sulf1	T	A	1: 12,908,664 (GRCm39)	L559Q	probably damaging	Het
Syne2	A	G	12: 76,035,927 (GRCm39)	D3738G	probably benign	Het
Taok3	A	T	5: 117,366,095 (GRCm39)	Q382L	probably benign	Het
Tet2	T	A	3: 133,192,178 (GRCm39)	H752L	possibly damaging	Het
Tia1	A	C	6: 86,403,638 (GRCm39)	K285T	probably damaging	Het
Tle3	G	T	9: 61,309,206 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,537,505 (GRCm39)	T414A	possibly damaging	Het
Ubc	A	T	5: 125,464,406 (GRCm39)	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,804,124 (GRCm39)	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,510,483 (GRCm39)	K102*	probably null	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	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
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
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'- TCTGCCTATGTAAAAGCAGAGAG -3'
(R):5'- GCTAGCATCTCTGAGCACAG -3'

Sequencing Primer
(F):5'- GACAGACTGACTTAGGGAAGCTTTTC -3'
(R):5'- CACAGCTCTCAGGGGAAAGTATG -3'

Posted On

2018-04-27