Mutagenetix > Incidental Mutation

Incidental Mutation 'R9295:Cpt1a'

704580

Institutional Source

Beutler Lab

Gene Symbol

Cpt1a

Ensembl Gene

ENSMUSG00000024900

Gene Name

carnitine palmitoyltransferase 1a, liver

Synonyms

Cpt1, CPTI, L-CPT I

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3372334-3435733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3428441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 605 (V605E)

Ref Sequence

ENSEMBL: ENSMUSP00000025835 (fasta)

Gene Model

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

AlphaFold

P97742

Predicted Effect

probably damaging
Transcript: ENSMUST00000025835
AA Change: V605E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: V605E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,116 (GRCm39)	V7E	probably benign	Het
Adam17	A	G	12: 21,399,938 (GRCm39)	V156A	probably benign	Het
Ankrd6	A	T	4: 32,822,160 (GRCm39)	V236E	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,081,734 (GRCm39)	D1125E		Het
Cacna2d2	A	G	9: 107,386,419 (GRCm39)	E182G	probably benign	Het
Cct3	A	G	3: 88,212,430 (GRCm39)	K139E	probably benign	Het
Cd96	G	T	16: 45,938,244 (GRCm39)	Q74K	probably benign	Het
Cdk5rap1	A	T	2: 154,194,186 (GRCm39)	I373N	probably damaging	Het
Cep350	A	T	1: 155,738,051 (GRCm39)	Y2597*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clcn1	G	A	6: 42,290,883 (GRCm39)	G919E	probably benign	Het
Col6a4	G	A	9: 105,957,734 (GRCm39)	A30V	probably damaging	Het
Copa	T	C	1: 171,939,823 (GRCm39)	C655R	probably damaging	Het
Ddx46	T	C	13: 55,811,599 (GRCm39)	I600T	possibly damaging	Het
Dhx9	C	A	1: 153,340,673 (GRCm39)	V656L	probably damaging	Het
Dnhd1	T	A	7: 105,363,348 (GRCm39)	M3970K	probably benign	Het
Ercc5	G	T	1: 44,198,017 (GRCm39)	V145F	probably damaging	Het
Erv3	T	C	2: 131,697,979 (GRCm39)	T127A	possibly damaging	Het
Fcer1a	T	C	1: 173,050,174 (GRCm39)	Y172C	probably damaging	Het
Gabra1	A	G	11: 42,044,217 (GRCm39)	M167T	probably damaging	Het
Ggt1	A	G	10: 75,421,743 (GRCm39)	H530R	probably benign	Het
Gli2	C	A	1: 118,764,996 (GRCm39)	V1052L	probably damaging	Het
Gm4491	A	C	14: 57,351,140 (GRCm39)	F84C	unknown	Het
Irf2bp1	C	T	7: 18,739,740 (GRCm39)	T460I	probably benign	Het
Klf3	A	G	5: 64,980,240 (GRCm39)	Y187C	possibly damaging	Het
Krt80	T	C	15: 101,249,652 (GRCm39)	E287G	probably benign	Het
Lama4	G	T	10: 38,948,747 (GRCm39)	V837F	probably damaging	Het
Lrig3	G	T	10: 125,850,722 (GRCm39)	C1096F	probably benign	Het
Mtrr	T	C	13: 68,719,258 (GRCm39)	R328G	possibly damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,476,721 (GRCm39)	D744E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4x13	G	A	2: 90,231,441 (GRCm39)	M145I	probably benign	Het
Pde4b	A	G	4: 102,112,478 (GRCm39)	T21A	probably damaging	Het
Phf20l1	G	A	15: 66,513,752 (GRCm39)	G1003D	probably damaging	Het
Phtf1	A	G	3: 103,904,893 (GRCm39)	T514A	probably benign	Het
Phykpl	A	G	11: 51,482,231 (GRCm39)	E115G	possibly damaging	Het
Pramel20	A	G	4: 143,298,704 (GRCm39)	T216A	possibly damaging	Het
Pxmp2	C	A	5: 110,433,944 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,209,209 (GRCm39)	L1123P	possibly damaging	Het
Rusc2	T	C	4: 43,416,382 (GRCm39)	S563P	probably damaging	Het
Secisbp2	T	G	13: 51,808,483 (GRCm39)	S83A	probably damaging	Het
Sema3c	T	A	5: 17,932,495 (GRCm39)	M666K	probably benign	Het
Serbp1	G	T	6: 67,248,208 (GRCm39)	D114Y	probably damaging	Het
Sh3d21	T	A	4: 126,045,276 (GRCm39)	T468S	possibly damaging	Het
Shroom3	T	A	5: 93,098,478 (GRCm39)	D1319E	probably benign	Het
Skida1	T	C	2: 18,051,386 (GRCm39)	R502G	unknown	Het
Slc25a12	C	A	2: 71,128,986 (GRCm39)	G314C	possibly damaging	Het
Smg8	A	G	11: 86,968,789 (GRCm39)	V989A	probably benign	Het
Spon2	G	A	5: 33,373,844 (GRCm39)	P156S	probably damaging	Het
Stx1a	A	G	5: 135,066,370 (GRCm39)	N50S	probably benign	Het
Tmem151b	C	A	17: 45,857,806 (GRCm39)	V147L	probably benign	Het
Trim12c	C	T	7: 103,990,391 (GRCm39)	G362D	unknown	Het
Tsr1	T	C	11: 74,799,135 (GRCm39)	V772A	probably damaging	Het
Tti2	A	T	8: 31,643,550 (GRCm39)	K222*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r60	A	G	7: 5,547,218 (GRCm39)	M294T	probably null	Het
Vmn2r6	T	C	3: 64,463,484 (GRCm39)	E450G	probably benign	Het
Vmn2r60	T	A	7: 41,785,955 (GRCm39)	F253I	probably benign	Het
Wnk4	A	T	11: 101,160,078 (GRCm39)	D649V	probably damaging	Het
Zfhx4	T	C	3: 5,394,525 (GRCm39)	S1040P	probably benign	Het
Zfp112	C	T	7: 23,824,805 (GRCm39)	R262C	probably benign	Het
Zfp287	T	A	11: 62,606,115 (GRCm39)	D264V	probably benign	Het
Zfp46	T	C	4: 136,017,876 (GRCm39)	C237R	probably damaging	Het
Zfp773	C	T	7: 7,135,694 (GRCm39)	E301K	probably benign	Het
Zswim2	A	C	2: 83,748,304 (GRCm39)	V292G	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
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
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
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'- CTCAGATCCATTCCAGGTCC -3'
(R):5'- TTCATGGTCAGCTTCCAGGG -3'

Sequencing Primer
(F):5'- CCTTCTCCCTTAGACTTAGATGG -3'
(R):5'- TCCAGGGCAGTGACTTTCAAC -3'

Posted On

2022-03-25