Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Cpt1c'

30275

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

CPT I-C, 9630004I06Rik

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44608796-44624275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44608999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 774 (N774S)

Ref Sequence

ENSEMBL: ENSMUSP00000148815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000212836]

AlphaFold

Q8BGD5

Predicted Effect

probably benign
Transcript: ENSMUST00000063761
AA Change: N774S

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

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: N774S

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.3e-21	PFAM
transmembrane domain	104	126	N/A	INTRINSIC
Pfam:Carn_acyltransf	171	757	7.7e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080233

SMART Domains

Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	525	5.7e-281	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120929

SMART Domains

Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	585	8.1e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212217

Predicted Effect

probably benign
Transcript: ENSMUST00000212836
AA Change: N774S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212890

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	Het

Other mutations in Cpt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Cpt1c	APN	7	44,610,333 (GRCm39)	missense	probably damaging	0.98
IGL01111:Cpt1c	APN	7	44,614,978 (GRCm39)	missense	possibly damaging	0.90
IGL01153:Cpt1c	APN	7	44,616,092 (GRCm39)	missense	probably damaging	0.99
IGL02232:Cpt1c	APN	7	44,609,580 (GRCm39)	missense	probably damaging	0.99
R0046:Cpt1c	UTSW	7	44,609,256 (GRCm39)	splice site	probably benign
R0046:Cpt1c	UTSW	7	44,609,256 (GRCm39)	splice site	probably benign
R0141:Cpt1c	UTSW	7	44,616,095 (GRCm39)	missense	probably damaging	1.00
R0749:Cpt1c	UTSW	7	44,612,250 (GRCm39)	missense	probably damaging	1.00
R1384:Cpt1c	UTSW	7	44,610,348 (GRCm39)	splice site	probably benign
R1611:Cpt1c	UTSW	7	44,609,536 (GRCm39)	missense	probably benign	0.03
R3122:Cpt1c	UTSW	7	44,609,345 (GRCm39)	missense	probably damaging	1.00
R4892:Cpt1c	UTSW	7	44,609,012 (GRCm39)	missense	probably benign	0.14
R5175:Cpt1c	UTSW	7	44,620,781 (GRCm39)	missense	probably damaging	1.00
R6029:Cpt1c	UTSW	7	44,614,548 (GRCm39)	missense	probably benign	0.00
R6352:Cpt1c	UTSW	7	44,616,219 (GRCm39)	critical splice donor site	probably null
R6856:Cpt1c	UTSW	7	44,609,342 (GRCm39)	missense	probably damaging	1.00
R7621:Cpt1c	UTSW	7	44,616,516 (GRCm39)	missense	probably damaging	1.00
R7749:Cpt1c	UTSW	7	44,611,689 (GRCm39)	missense	probably benign	0.16
R7883:Cpt1c	UTSW	7	44,613,438 (GRCm39)	splice site	probably null
R8178:Cpt1c	UTSW	7	44,609,077 (GRCm39)	missense	probably damaging	0.99
R9165:Cpt1c	UTSW	7	44,608,925 (GRCm39)	makesense	probably null
R9225:Cpt1c	UTSW	7	44,610,213 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAAAAGCACAGTGGATACTGCACC -3'
(R):5'- TGATGTAGCCTCCTCCCTCAGAAC -3'

Sequencing Primer
(F):5'- TCACATCTTTATTACCAGGTGGG -3'
(R):5'- CCTCAGAACTGCCTCCCG -3'

Posted On

2013-04-24