Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Cpt1c'

628614

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

CPT I-C, 9630004I06Rik

MMRRC Submission

045935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44608796-44624275 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44613438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148815 (fasta)

Gene Model

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

AlphaFold

Q8BGD5

Predicted Effect

probably null
Transcript: ENSMUST00000063761

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

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 null
Transcript: ENSMUST00000063761

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

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 null
Transcript: ENSMUST00000063761

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

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: ENSMUST00000211862

Predicted Effect

probably null
Transcript: ENSMUST00000212836

Predicted Effect

probably null
Transcript: ENSMUST00000212836

Predicted Effect

probably null
Transcript: ENSMUST00000212836

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,744,440 (GRCm39)	W5R	unknown	Het
Abcb6	A	T	1: 75,154,660 (GRCm39)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,618,027 (GRCm39)	V1082A	probably benign	Het
Adrb2	A	G	18: 62,312,447 (GRCm39)	V126A	probably damaging	Het
Apol11a	A	G	15: 77,400,774 (GRCm39)	E87G	probably damaging	Het
Arhgap45	T	A	10: 79,863,423 (GRCm39)	C755*	probably null	Het
Arl13b	A	T	16: 62,647,629 (GRCm39)	I93K	probably damaging	Het
Aspm	A	G	1: 139,406,405 (GRCm39)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm39)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,940,180 (GRCm39)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,365,735 (GRCm39)	N1150K	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta2	T	C	11: 70,566,037 (GRCm39)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,454,978 (GRCm39)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm39)	N956S	probably damaging	Het
Cttn	C	T	7: 143,999,555 (GRCm39)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,610,218 (GRCm39)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,190,397 (GRCm39)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm39)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,709,229 (GRCm39)	D612E	probably damaging	Het
Fat2	T	C	11: 55,144,190 (GRCm39)		probably null	Het
Fat4	G	A	3: 39,035,968 (GRCm39)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,517,474 (GRCm39)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,891,235 (GRCm39)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,204,469 (GRCm39)	T377M	probably damaging	Het
Gcnt3	T	A	9: 69,941,453 (GRCm39)	I372F	probably damaging	Het
Gm10577	A	T	4: 100,877,719 (GRCm39)	Y59N	unknown	Het
Gm826	A	G	2: 160,169,213 (GRCm39)	L32P	unknown	Het
Grid1	T	G	14: 35,172,259 (GRCm39)		probably null	Het
Hid1	T	A	11: 115,245,435 (GRCm39)	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,529,456 (GRCm39)	V58A	probably benign	Het
Iqcj	A	G	3: 67,954,641 (GRCm39)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,572,434 (GRCm39)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,450,888 (GRCm39)	I722M	probably damaging	Het
Klhl36	T	C	8: 120,601,217 (GRCm39)	V412A	possibly damaging	Het
Krt18	G	A	15: 101,936,885 (GRCm39)	V58M	possibly damaging	Het
Lats2	T	C	14: 57,934,657 (GRCm39)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,555,141 (GRCm39)	I4095N		Het
Map1a	A	G	2: 121,135,853 (GRCm39)	E2223G	probably damaging	Het
Med25	A	G	7: 44,541,232 (GRCm39)	F94L	possibly damaging	Het
Mertk	A	G	2: 128,618,265 (GRCm39)	I499V	probably benign	Het
Mrps12	A	G	7: 28,439,568 (GRCm39)	L49P	probably benign	Het
Nwd1	T	A	8: 73,393,754 (GRCm39)	V339D	probably damaging	Het
Obscn	G	A	11: 58,960,835 (GRCm39)	Q3159*	probably null	Het
Patj	G	A	4: 98,499,372 (GRCm39)	V1349I	probably benign	Het
Pcdha8	T	A	18: 37,126,196 (GRCm39)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm39)		probably null	Het
Pdzd7	A	C	19: 45,018,679 (GRCm39)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 67,888,897 (GRCm39)	R45*	probably null	Het
Pik3c3	T	C	18: 30,407,416 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,392,522 (GRCm39)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,812,641 (GRCm39)		probably null	Het
Ppan	T	A	9: 20,802,777 (GRCm39)	I311N	probably benign	Het
Ppih	C	A	4: 119,167,987 (GRCm39)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,562,026 (GRCm39)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,746,524 (GRCm39)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,560,626 (GRCm39)	K53R	probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,892,723 (GRCm39)	I288V	probably benign	Het
Sds	A	G	5: 120,617,278 (GRCm39)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,847,187 (GRCm39)		probably null	Het
Sis	A	T	3: 72,828,329 (GRCm39)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,479,660 (GRCm39)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,385,340 (GRCm39)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,206,192 (GRCm39)	I440T	probably damaging	Het
Spata6l	A	C	19: 28,906,013 (GRCm39)	S297A	probably benign	Het
St6galnac6	A	G	2: 32,504,941 (GRCm39)	N151S	probably benign	Het
Taf4	G	T	2: 179,571,088 (GRCm39)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,402,375 (GRCm39)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,572,394 (GRCm39)		probably null	Het
Tmem270	A	G	5: 134,931,681 (GRCm39)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,153,169 (GRCm39)	H395R	probably damaging	Het
Tufm	T	C	7: 126,088,114 (GRCm39)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,166,188 (GRCm39)		probably null	Het
Tulp3	G	A	6: 128,303,807 (GRCm39)	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,244,440 (GRCm39)	D194G	possibly damaging	Het
Vill	C	A	9: 118,894,589 (GRCm39)	C415*	probably null	Het
Zfp799	A	G	17: 33,039,256 (GRCm39)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,685,270 (GRCm39)	E213G	possibly 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
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
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
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'- AAGCCCCATTCTCTGCTAGG -3'
(R):5'- CTGTGGAGACTGTCTGAAACC -3'

Sequencing Primer
(F):5'- AGTCTGTATGCCTCTATTCTAAGG -3'
(R):5'- TCTGAAACCACCTCTGGGGATTG -3'

Posted On

2020-05-18