Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Cpt1c'

589141

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

CPT I-C, 9630004I06Rik

MMRRC Submission

045688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44608796-44624275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44616516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 245 (R245Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000211862] [ENSMUST00000212255] [ENSMUST00000212836]

AlphaFold

Q8BGD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063761
AA Change: R245Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: R245Q

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

possibly damaging
Transcript: ENSMUST00000211862
AA Change: R174Q

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212255

Predicted Effect

probably damaging
Transcript: ENSMUST00000212836
AA Change: R245Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,051,359 (GRCm39)	K112N	probably benign	Het
Brwd1	A	G	16: 95,866,087 (GRCm39)	S232P	probably damaging	Het
Calm5	A	T	13: 3,904,629 (GRCm39)	M108L	possibly damaging	Het
Ces1g	A	T	8: 94,055,094 (GRCm39)	V201D	probably damaging	Het
Cltc	C	A	11: 86,598,312 (GRCm39)	V1017L	probably benign	Het
Csrnp1	C	A	9: 119,806,158 (GRCm39)	A39S	probably benign	Het
Elf1	A	G	14: 79,808,322 (GRCm39)	D258G	possibly damaging	Het
Entrep1	A	C	19: 23,972,168 (GRCm39)	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 111,896,300 (GRCm39)	D29V	probably benign	Het
Gm4340	T	C	10: 104,031,820 (GRCm39)	V188A	probably benign	Het
Gsdma2	T	C	11: 98,540,375 (GRCm39)	M98T	probably benign	Het
Hars1	A	T	18: 36,903,476 (GRCm39)	D315E	probably benign	Het
Hsph1	A	C	5: 149,555,540 (GRCm39)	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,012,008 (GRCm39)	D69V	probably benign	Het
Kirrel1	C	T	3: 86,995,528 (GRCm39)	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,600,187 (GRCm39)	T355K	possibly damaging	Het
Lce1m	T	C	3: 92,925,177 (GRCm39)		probably null	Het
Lmbrd1	A	T	1: 24,767,625 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,442,841 (GRCm39)	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,809,899 (GRCm39)	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834 (GRCm39)	K477*	probably null	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Or14c45	G	A	7: 86,176,280 (GRCm39)	C105Y	probably benign	Het
Or4f14d	T	C	2: 111,960,926 (GRCm39)	T77A	probably benign	Het
Or55b3	G	A	7: 102,126,472 (GRCm39)	R202C	possibly damaging	Het
Or8c15	T	C	9: 38,120,447 (GRCm39)	F31L	probably benign	Het
Pgap6	C	A	17: 26,336,865 (GRCm39)	P261Q	probably benign	Het
Pkm	T	A	9: 59,585,441 (GRCm39)	C474*	probably null	Het
Prr36	T	A	8: 4,263,150 (GRCm39)	I839F	unknown	Het
Qtrt2	A	G	16: 43,689,303 (GRCm39)		probably null	Het
Ripk4	A	T	16: 97,547,125 (GRCm39)	V379E	probably damaging	Het
Rreb1	C	A	13: 38,133,042 (GRCm39)	P304Q		Het
Saxo2	A	T	7: 82,297,625 (GRCm39)	C5S	possibly damaging	Het
Scart2	G	A	7: 139,876,742 (GRCm39)	G711D	probably damaging	Het
Sema5a	C	A	15: 32,609,378 (GRCm39)	T428N	possibly damaging	Het
Setd5	C	A	6: 113,121,010 (GRCm39)	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 137,984,150 (GRCm39)	C173G	probably benign	Het
Slc4a10	T	G	2: 62,080,823 (GRCm39)	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,106,743 (GRCm39)	C15R	probably damaging	Het
Smg7	A	T	1: 152,717,295 (GRCm39)	F940Y	possibly damaging	Het
Spata17	T	A	1: 186,854,833 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,210 (GRCm39)	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,421,673 (GRCm39)	D355G	probably damaging	Het
Thbs2	T	C	17: 14,894,426 (GRCm39)	D807G	probably benign	Het
Usp53	T	C	3: 122,754,934 (GRCm39)	T174A	probably benign	Het
Vmn2r52	A	G	7: 9,907,274 (GRCm39)	Y151H	probably benign	Het
Wdr12	G	A	1: 60,136,748 (GRCm39)		probably benign	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
R0367:Cpt1c	UTSW	7	44,608,999 (GRCm39)	missense	probably benign
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
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'- TTACCGGTGAGATCTCCTGC -3'
(R):5'- GTTGTTAACCATAACCAATTTCCCC -3'

Sequencing Primer
(F):5'- CGTACAGAAAATCCTGCTTGGTG -3'
(R):5'- TAACCAATTTCCCCCGCCC -3'

Posted On

2019-10-24